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Has your child been diagnosed with MECP2?  Submit your child's profile to the website here!

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Child's Name:    Aiden Joseph

Birth Date:    April 20, 2007

Parent's:    Raymond and Susan

Siblings:    Gilbert, Alexander and Delilah

Other Affected Family Members:    Aiden's mother is a carrier.  Aiden's grandparents, Raymond and Susan, adopted him and have had him since birth.

Reside:    California

Diagnosed:    July 2010


Name:   Aiden Blane

Birth Date:   December 2010

Parent's Name:    Carla ~ Maternal Grandmother with full guardianship

Siblings:    None

Other Affected Family Members:    None

Reside:   Indiana

Date Diagnosed:   March 2012

Milestones:

*Rolled over - 4 months

*Held own bottle - 6 months

*Up on knees rocking - 9 months

*Crawling - 12 months

*Pulled up to furniture - 15 months

Other Information:

*Aiden is a happy boy.  Loves music and cartoons.  He is always smiling.  If it weren't for not talking and walking, you would never know that he has MECP2.

*He currently sees a number of specialists and is starting therapy.

*He takes Miralax daily for chronic constipation.


Child's Name:

Andrew

Birth Date:

July 5, 2007

Parents:

Brandy & Andy

Siblings:

None

Other Affected Family Members: 

None

Reside:

Seneca Falls, NY

Diagnosed:

July 27, 2010

 

 

Other Information:

Andrew is a lovable 3 year old. He loves playing with trucks and books.

 

April 2011 Update:

Andrew is currently in preschool at The Happiness House which is for "special" childen.  He has a special ed teacher, as well as a speech therapist, occupational therapist and physical therapist.  Andrew loves music and books.  He also likes playing with trucks and cars.  He says "dadada" "hi" "yeah".  He also says thank you, please, more, mommy, daddy and dog in sign language.  He likes watching the Disney Channel.  He is currently seeing many specialists through the Golisano's Children Hospital.  He is still in diapers but is working towards using the potty in the near future!

 

 

 

 

 


Child's Name:

Antonio Giovanni

Birth Date:

August 8th, 2011

Parent's Name(s):

Beverly and John

Siblings Name(s):

Gianna

Other Affected Family Members:

Beverly was found to be a carrier. Looking back at our family history, it is likely that Beverly's maternal uncle had MECP2 duplication syndrome. He walked at age 5, never fed himself, started with seizures at age 7. He lived to age 29 and died of pneumonia. He lived at home and was cared for entirely by Beverly's grandparents. Gianna has not been tested yet as she is young and we do not feel that it is necessary currently.

Reside:

Monongahela, PA - approximately 1 hour from Pittsburgh, PA

Date Diagnosed:

July 23, 2012

Milestones:

Gross Motor:
Rolling over consistently - 14 months
Sitting independently- 16 months
4 point crawl position- 17 months
crawling- 17 months
Pull to stand- 21 months

Fine Motor:
holding on bottle/sip cup- 12 months
Feed self cheese puffs- 18 months
Picks up toys to chew- 18 months
Today at nearly 2 yrs old, he has not developed a pincer grasp, does not push large buttons on toys, etc.

Speech:
Antonio's only communication skills consist of only whining, honking, crying. We have not heard very little babbling and what we have lasts for only a very short period and disappears for 5 months or more.

Cognitive:
When you call his name, he does not look in your direction. He recognizes our voices, the comfort of our touch, but refuses to look at anyone. His play skills consist of only chewing on toys or holding them at angle to look at which we've been told is autistic behavior. He does not mimic anyone or anything.

Other Information:


Antonio aspirates on his liquids. He was over a year old when it was finally recommended by the feeding clinic at Children Hospital of Pittsburgh that he have a modified barium swallow study. He spit up all the time, so much that he began losing weight. The study showed he silently aspirates. Since then we've been thickening to a honey consistency. His weight has improved and with the help of adding Pediasure to his diet and working on his oral motor skills, he is eating a much bigger variety of foods- all pureed.

Antonio also had constipation issue since birth. His previous pediatrician ignored our concerns but after see gastroenterology started on Miralax daily which greatly improved his issues.

Currently, Antonio receives PT, OT, Speech and Special Instruction thru Early Intervention. Therapist work him once per week. He's been receiving therapy services for over a year now.

Antonio loves music! He will bounce, flap his arms, smile and laugh when he hears a funky beat. Oddly enough, he also reacts similarly to the vacuum, a kitchen mixer and a hairdryer. He enjoys a good tickle session. The smiles and squeals can't help but brighten your heart. He also LOVES to be cuddled. Even if he refuses to look in our eyes, we know that he feels the love we share with him in our arms.


Child's Name:   Austin Hollingsworth

Birth Date:  July 15, 2003

Parent's Name(s):   Carrie

Siblings Name(s):  Abigail, Sierra

Reside:  Missouri (USA)

Date Diagnosed:   Febuary 2008

Milestones:   Austin can sit up on his own and get down in a sitting position.  He rolls and scoots everywhere.  He flaps his arms and legs when he is happy and excited.  He can pull himself up to a tall kneel.  He can stand with you holding him under his arms.  He is a very happy little man!  He used to have a g-tube put in at 5 weeks old and it was removed in 2007.  He can drink thickened liquids and eats most table foods, but has to have most of them fed to him.  We are so excited that this winter he has stayed pretty healthy.  He is in 1st grade and has a one on one nurse that goes to school with him.  He receives PT, OT, Speech and Aug. Comm. services.

Other Information:  Austin was diagnosed with MECP2 along with Cri Du Chat in Feb. 2008.  He had several test done before being diagnosed ordered by his pediatrition and neuromuscular doctor.  The doctor that ended up diagnosing him was neurogenetics doctor.  Austin is the only one documented that has the combination of these chromosomes. When he was 4 months old, he had difficulity breathing and required a tracheotomy and placed on a ventilator. He was able to be weaned off the vent. about 2 years old but still needed the trach to help him breath because he had paralisis in his vocal cords. He had constant hospital stays due to respitory issues.  He had a port placed to help make his frequent hospital stays more managable.  He was breifly decanulized in July of 2007, but due to his frequent reocurring respiratory infections he was recanulized in Jan. of 2008.  He contiues to use the trach and is on 02 while sleeping.  He was recently put on a seizure medicine in Nov. 2009 in hopes of preventing the seizures when he gets very sick.


Child's Name: Austin

Birth Date: March 5, 2003

Parents: Jennifer

Sibling's Name: Landon

Other Affected Family Members: Landon was diagnosed at 1 month old in July of 2010.

Reside: Texas

Date Diagnosed: April 2010

Milestones:

Rolled over - 8 Months
Sat Unassisted - 16 Months
Crawled - 20 Months
Walked - 5 Years

He is currently 100% tube fed, he received the feeding tube and a nissen fundoplication in June 2011.  He is non-verbal and uses other tools to communicate.  He does not walk at all, he lost the ability to do all that with the seizure episodes he has had.  He is currently no where near potty training and wears diapers.

 

 

Other Information:

Austin is now going to be 10 years old in about two months and he suffers from severe epilepsy, which is now able to be controlled with the proper medication combination. They diagnosed him with that in 2007 and as he got older the seizures got worse and he began to have multiple types. He was recently diagnosed with Lennox-Gastaut Syndrome in November of 2010 and shortly after that diagnosis he began to have Grand Mal Seizures, along with the other types of seizures he had before. Epilepsy was the hardest thing to get under control, but once the doctor found the right combination of medications, it made a big difference in his life.

As a toddler, he had many episodes of Pneumonia, Upper Respiratory Infections and ear infections, which lead to him getting his tonsils and adenoids removed and ear tubes put in when he was 4. The respiratory illnesses come and go with him. He will do great and be healthy and thriving for a while, and then he will be sick and in the hospital for up to a week at a time. Once he received the feeding tube and fundo, it made a big difference in his health and the illnesses slowed down.

His list of active diagnosis' now include MECP2 Duplication Syndrome, Chronic Constipation, Epilepsy, Lennox-Gastaut Syndrome, Hypotonia (low muscle tone), Hydrocephalus, Severe Developmental Delay and Mental Retardation.

Despite all the medical challenges, Austin is a very happy kid and loves to watch his shows. His favorite shows are Dora and Diego.

When he was diagnosed with MECP2 Duplication Syndrome, we were relieved to finally have an accurate diagnosis. It answered a lot of questions that we had about his medical conditions, as before doctors seemed to labeling him with a new diagnosis at every appointment that did not match any of his medical issues.


Child's Name:    Ava

Birth Date:   March 1, 2010

Parents:    Heather & Lee

Siblings:    None

Other Affected Family Members:    None -- parents have not been tested as genetic carriers

Reside:    Canada

Diagnosed:    May 2011

Milestones:

*Ate solid foods - 6 months old

*Drank from a sippy cup - 10 months old

*Self fed - 11 months old

*Sat up unassisted - 12 months old

*Babbled with "dada and mama" sounds - 12 months old

Other Information:

 *Ava was born at 42 weeks, she was breech, but turned on her own and was able to be delivered naturally.  She weighed 5 lbs, 9ozs.  She spent 5 days in the NICU because of feeding difficulties due to a low suck reflex, but she learned quickly.

*She was diagnosed with hypotonia at 9 months and only after having genetics testing done was diagnosed with MECP2 Duplication Syndrome.

*Ava has chronic asthma and has been hospitalized 4 times with pneumonia.  She received nebulizers twice a day for asthma treatment as well as PEG for mild constipation.

*Ava's MECP2 Duplication has attached to her chromosone 27 and for this reason cannot be de-activated.


Child’s Name:  Ayssa Abygail


Birth Date:   April 20, 2011


Parents:     Erica and Albert


Siblings:   Albert and Andre


Other Affected Family Members:   None


Reside:   San Benito, Texas


Diagnosed:   ?


Milestones:

*Started eating by mouth – 1 year old


Other Information:

*Ayssa is a beautiful 2 year old.

*She sits for long periods of time without falling down.

*She can be on all fours for a few seconds before falling.

*Ayssa gets congested often but clears up quick on her own.

*We pray and hope to get her to crawl, walk and talk.

*She was a very happy baby and still is.

*She loves to laugh when tickled.


Name:  Benjamin

Birth Date:  November 2, 2005

Parents:  Brent & Holly

Siblings: Rebecca, Katherine, and Sarah

Other affected family members:  None; both parents tested and are not carriers, part of duplication on his Y chromosone

Reside:  Utah, USA

Diagnosed:  August 2008

Milestones:

Rolled over - 10 months

Sat unassisted - 11 months

Crawled - 15 months

Walked at 2 years, after 6 months of intense P.T.

Walk downstairs with low handrail - 34 months

Information:

Loves books, music, and bathtub

Chews on blankets for oral stimulation

Chronic sinus infections

1 case of pneumonia

Aspirates on thin liquids, have to now thicken all his liquids with Hydra-Aide

Likes to eat and tends to overstuff and choke on food if not assisted

Does not talk, but can vocalize and demonastrates receptive language

Is learning sign language and knows about 5-6 signs

Small in height

Good sleeper - can sleep around 11 hours per night with a 2 hour nap during day

Has hypotonia

Developmentally delayed

Loves to play peek-a-boo

Has had surgery to remove adenoids and insert set of tubes in ears

Had strabimus in left eye and had surgery to adjust eye muscles

Very social and likes to laugh a lot

Update: April 2009

Benjamin has made some small improvements. He will scribble, attempt to feed himself with both fork/spoon and pull on his mom's arm to get her attention for things he wants. They have been using the PEC system to get him to choose between 2 pictures for things he wants. They tried line drawings, but found that actual pictures work better at this point. He loves going to preschool and is doing well there.

Benjamin had 2 cases of pneumonia and 1 case of RSV this past winter, all were mild cases and did not require any hospitalizations. He also had an EEG done which showed no signs of seizures at this time, only some slow waves.


Name:   BradenBraden

Birth Date:  July 21, 2004

Parents:  Scot and Pam

Siblings:  Noah (both brothers displayed similar characteristics of the syndrome. Noah did not receive a diagnosis before he passed away just shy of 6 years old) and Amber (older sister)

Other affected family members:  Noah

Reside:  Pennsylvania, U.S.A

Diagnosed:  2007 by doctor at the Children's Hospital of Philadelphia

Milestones:  Currently working on getting Braden to sit unassisted.

Information:Braden and Amber

Catches colds easily and has many sinus infections.

When he is sick, he often needs oxygen while sleeping because of nasal congestion

Low muscle tone, hypotonic

Grinds teeth occasionally when awake

Enjoys biting on chew toys -- seems to crave the oral stimulation

Bites hard on his knuckle on his right hand...sometimes we have a hard time getting him to stop doing this...we are trying to figure out what provokes him to do this...being hungry, tired, gas pains, burps, etc.

After meals, he burps a lot

Has a tremendous amount of gas

Occasionally has repetitive finger movements -- almost like he is knitting

Seizures (started at age 3 1/2 years)

Loves watching music videos and having books read to him

Does vocalize but does not say any words

Will smile and giggle during rough-house play and also when he is in water

LOVES the bathtub and swimming pool

Really enjoys being outside in warm weather

Has some arm and leg flapping

History of high Hemoglobin F Percentage

LOCAL NEWS:

http://www.pressandjournal.com/articleDetail.aspx?id=1571


Updated provided by mom on September 9, 2009:Braden

Braden has regressed in the past year.  He is able to fight colds easier but the uncontrollable seizures have had a devastating affect on him.  He has tried numerous seizure medicines, but none have worked.  Braden doesn't eat as well as he used to and has stopped holding toys in his hands and biting on them.  He hardly ever smiles anymore.  Because of his seizures, he gets all his therapy at home.  We spend a lot of time cuddling with him which he seems to enjoy.  He also gets A LOT of kisses each day.  We continue to love him just as much as our healthy 11 year old daughter.


Name:   Brody

Birth Date:   November 7, 2011

Parent's Name:   Amy

Siblings:   Austin and Savannah

Other affected family members:   Austin

Reside:   Georgia

Date Diagnosed:   November 2012

Milestones:

*Rolling everywhere

*Plays with toys

*Tries to get up on all 4s

*Loves to watch TV

Other Information:

*Has a feeding tube.

*On seizure medications.


Name:  Brody

Birth Date:  February 2, 1999

Parents:  JoAnn & Jimmy

Siblings:  None

Other affected family members:  3 Uncles and 1 cousin, all deceased

Reside:  Lake Charles, Louisiana, USA

Diagnosed:  February 2005

Milestones:

Crawled at 1 1/2 years

Walked at 2 1/2 years

Information:

Brody loves Disney music, Barney, The Wiggles, Clifford.

He was a wiz on the computer, playing on Disney, Noggin and PBS Kids sites all by himself.

Since has regressed because of seizures and eating problems.

Had a VNS (Vagal Nerve Stimulator) Surgery in June to help with seizures, not working yet.

Also, in July he had a G-Button placed in stomach to help with nutrition.

Update: May 2009

From Brody's mom:

Brody has had a very hard year. He has steadily gone down physically. He had a G-tube put in July 2008 since he quit eating and was losing weight. The g-tube has been a saving grace. Brody gained the weight back that he had lost plus some. It is so easy to give his medicines, etc. thru the g-tube and not worry how to get it in his mouth.

Brody has severe epilepsy. He had a VNS inserted in June 2008. The VNS has not worked yet. We are still using the magnet, but have not seen any response. We have tried several medicines, but have not had any success. Currently he is on Clonopen, Lamictal and Banzel. We just started Banzel a month ago, but have not seen any relief to seizures. He still has grand mal seizures, kicking seizures, but seizure types are changing. He is often tired and sleeps a lot.

Brody has lost the ability to sit independently, stand, walk, use his hands, smile, and other physical abilities. His body just can’t work like it used to. We had to homebound him for school this year because he was having severe seizures at school. He gets a teacher 4 days a week for an hour. There has not been much progress. He has a speech therapist twice a week. He is unable to communicate since he can’t use his hands or walk. He does use eye gaze for some recognition. However, he did just get a wonderful wheelchair that holds him upright and allows him to get out and do more.

His respiratory problems got worse. However, we got a machine called the “vest” and it does wonders to keep him from building up mucus in his throat and chest. He hasn’t had an illness since we have gotten it and have him on a daily treatment along with nebulizers.

Brody has been down a very hard road over the last year and a half. It seems the abilities his body had are slowly going away. We still see the team of doctors regularly at Texas Children’s Hospital in Houston. We are in constant contact for updates and medical help.

It doesn’t matter what Brody’s body can’t do. We still know he is full of love and enjoys being with the people he holds close to his heart. His eyes say all we need to know.


Name:  Caden

Birth Date:   September 25, 2002

Parents:  Chad and Jennifer

Siblings:  Lucas - 2 1/2

Other affected family members:  Lucas received his dx in August 2009

Reside: Texas, U.S.A.

Diagnosed:  September 2009

Milestones:

Sat up at 6 months

Crawled at 18 months

Walked at 2 1/2 unassisted - very slow at first but runs now

Information:

Caden is a very loving, kind, happy boy!  He smiles all the time!

Caden loves music of all kinds- sings, play guitar or piano, listen to CD's or Barney movies

He loves books, swimming, riding four wheelers and hunting with DAD. Mainly just LOVES DAD!!

He chews on a camo pillow that he carries with him often and must have to sleep. We have been through 4 pillows in 7 years because he eats them.

He loves to go to school and ride the bus

Caden really enjoys being with other children he really like his best friend Caitlin and loves being with his cousins, mainly the GIRLS!

He flaps his arms and legs when happy or excited

Communication:

Caden used signs like more, drink, bite and from about 9 months to 5 yrs

Caden also uses words Mama, Dada, Bye, now

Caden now uses the Picture Exchange System or PEC's to communicate. He has done very well and is receiving a TANGO computer this year that will use the PEC's system.

Health:

As an infant Caden was breech at birth and had hypotonia to the point when laid on his back his feet would touch his head.

Caden's hypotonia still continues he walks on the inside of his ankles.

From the 1st bottle Caden had horrible reflux we used beach towels instead of burp clothes. After many medications his GI Dr's did surgery for Pyloric Stenosis and it never fixed the problem. He outgrew this stage.

Caden has always has severe constipation from birth

Caden is still incontent although he does go to potty on a schedule

For the first 3 years of Caden's life he was in the hospital 12 times with Asthma, Respiratory Illness or Pneumonia.

Since 3 he has been somewhat healthy -  he has only had 3 hospital stays for Respiratory illness.

Caden has had dental issues since his teeth have come in. He has had 2 major dental surgeries mainly because dentist is not able to treat him in office. Caden lost his 2 front teeth at 4 and still do not have them in.

Caden has had PT,OT and Speech therapy since he was 6 months old. Pretty much 1x per week for each therapy.

He is soon starting equine therapy.


Child's Name:   Charles

Birth Date:    July 21, 2009

Parents:     Wendy & Brian

Siblings:    Jonathan & Molly

Other Affected Family Members:    Unknown -- Charles was adopted by Wendy and Brian on 11-29-11.  Bio mom does not have any knowledge of family history.   Charlie lives with Wendy and Brian in their home, along with their other son, Jonathan, who is his biological half brother, who does not have MECP2 Duplication.

Reside:    Maine

Date Diagnosed:   August 30, 2010

Milestones:

*He rolled over at 4 months after he came to live with Wendy & Brian for the first time.

*He was always a very floppy baby and had a lot of reflux issues from birth.  He had a G-tube and a Nissen done in November 2010 at age 16 months and 16 pounds.  Today at 31 months he weighs in at 35 pounds.

*He left Wendy & Brian at 6 months old to try to reunify with his bio mom.  He suffered as aspirated pneumonia at 7 months old and came back to live with Wendy & Brian at 8 months old a very sick little boy.  They managed to keep him pneumonia free from 8 months to 22 months old, when he was admitted for just 2 nights with just a slight pneumonia and released just in time to go to Houston for the MECP2 conference in 2011.  He currently is being treated for bronchitis but so far no pneumonia.

*He sat independently at 24 months old and is slowly making gains every week.  He has 5 therapists who work with him weekly.  He is at 31 months almost ready to crawl, also able to weight bear for a few minutes on his feet in a standing position.

*He still eats pureed foods, thank goodness for the Baby Bullet, but is slowly working on soft vegetables.

Other Information:

*He is a very happy baby who loves music, baby first television, and watching his brother show him how to play with different toys.

*He loves to be talked to, he says randomly but not frequently dada, mama, haha, hey, baba, lala, and up.

*He loves his tub time.  His dad calls him whale in the tub because he kicks his feet and splashes water all over the person bathing him and the bathroom.

 

 


Name:    Charlie

Birth Date:    June 2011

Parents:    Josh and Sarah

Other Affected Family Members:    Sarah (mom) carries the duplication.

Reside:   Georgia

Date Diagnosed:    September 2013

Milestones:

*Rolled over - 7 months

*Sitting position - 13 months

*Picked up objects - 14 months

*Crawled - 17 months

*Pulled to stand - 17 months

*Walked - a little after 2 years

*Not talking yet.  He is very delayed in fine motor areas as well.

Other Information:

*His mom gives credit for all of his developments to his amazing therapists (PT, OT, Speech, Hippo, and Music).

 


Child's Name:
Connor
Birth Date:
April 30, 2009
Parents:
Rebecca and Scott
Siblings:
None
Other Affected Family Members:
None
Reside:
Elkhorn, WI
Diagnosed:
January 18, 2011
Milestones:
-Smiled at 3 months
-Rolled over at 7 months
-Sat up at 9 months
-Crawled at 12 months
-Drank from sippy cup at 13 months
-Said "Mama" and "Dada" at 13 months
-Started pulling himself up at 15 months
-Walked at 17 months
Other Information:
Connor has had multiple medical problems since birth. He's suffered from snoring and chronic nasal drainage since birth, ear infections started at 3 weeks. He had plagiocephaly and wore a helmet from 10 months to 13 months. Plagiocephaly resolved. He has been delayed in motor skills since birth, but with the help of Birth to 3 involved since he was 5 months old, he has managed to complete most of his milestones successfully. He had Tubes inserted and adenoidectomy at 15 months due to ear infections and chronic nasal drainage. The tubes were successful regarding ear infections but having his adenoids removed only increased his nasal drainage and snoring. We saw autistic features in him starting at 1 year and had him evaluated for autism December 15th, 2010. WEAP diagnosed him with PDD-NOS (Pervasive Development Disor! der - Not otherwise Specified). We now realize that his autistic features were due to MECP2 Duplication Syndrome.

He was recently hospitalized for two weeks due to RSV. He is now home and doing well again.

Connor is a happy, loving child that enjoys cuddling and lots of attention. He also enjoys playing with books, playing with his pretend piano, sesame street videos, spinning things on toys, and playing with his pretend house.

We are so thankful for all the happiness he has brought to our lives, and are so happy we finally have a diagnosis that fits his medical history.

Name:  Cortez

Birth Date:  July 27, 2007

Parents:  Ricky & Melissa

Siblings:  Dayjia, Emity, Kellie, Isabel and Brielle

Other affected family members: None; both parents tested and are not carriers.

Reside:  South Dakota, USA

Diagnosed: July 2008

Milestones:

13 months, roll from back to tummy.

14 months, can sit unassisted for very short period of time.

Information:

Cortez is a very content and happy little boy.

He absolutely loves swinging at park and watching his family members sing songs that have hand actions to them like “Itsy bitsy spider”.

He also enjoys watching his goldfish. He babbles and can make the sound “dada”.

Small on growth chart (microcephaly/height), hypotonia, hypothyroidism, have some concerns regarding calorie intake, no seizures.

Hospitalized for first time July 2008 for a respiratory infection-hopefully they will not be recurrent.


Name:  David

Birth Date:  September 10, 1990

Parents:  Louise and Dick

Siblings:  Connie

Other affected family members:  None

Reside:  Edmonton, Alberta, Canada

Diagnosed:  May 2009

Milestones:

Rolled over at 14 months

Walked at 3 years, 9 months

Graduated High School at age 18

Used about 30 Signs and a few words to communicate at about age 12, but has lost most of his signs and words since then.

Information:

Dave was just diagnosed by the Baylor lab. He has a long 2.7Mb duplication.

Dave has had a lot of problems with pneumonia-Using a nebulizer with salbutamol definitely helped his respiratory infection

Dave started to have seizures around age 11 and they have been difficult to control. His seizures seem to be related to his sleep and giving him melatonin just before bedtime has really helped with his seizures.

Dave's teeth came in very late. He's 18 now and one or two second teeth haven't come in yet.

Dave smiles and laughs frequently.

Dave enjoys a wide variety of music and music videos.

Dave likes therapeutic horseback riding.

Dave loves whirlpool baths, swimming, etc.

Dave greatly appreciates pickles, fried potatoes of any kind, butter pecan ice cream, root beer, maki, spring rolls, fish and chips, fried scallops, popcorn shrimp, sausages, and a number of other foods.

Although his is a bit shy, he really likes the company of other people. Dave likes babies a lot and loves dogs and cats. Like most young men, he seems to have a particular interest in cute, young women, but he likes anyone who is nice to him.

When he was younger, we traveled lots with Dave. He's been to Australia, New Zealand, Fiji, French and French Polynesia as well as trips to lots of places in the US and Canada. These days we stay closer to home mostly because of seizure issues.

Dave has been in a regular classroom with and aide throughout his school age years and he likes going to school. He will graduate from high school this year and we are hoping that he will start at University soon after.


Name:  Dominic

Birth Date:  June 4, 2003

Parents:  David and Tara

Siblings:  Charlie

Other affected family members:  None

Reside:  Massachusetts, U.S.A.

Diagnosed:  Diagnosed in Sept. 2006 from Children’s Hospital Boston with a genetic syndrome called Duplicated MeCP2 Syndrome this is on the Y. We were told that he is first documented case with this genetic variation. 

Milestones:

Walked at 3 years, 5 months

Crawled at 2 years, 2 months

Information:

Extremely happy, social child who typically goes with the flow.

Unilateral hearing loss in his right ear.

Strong tolerance to pain, and crying is usually related to something being physically wrong.

Makes steady eye contact, frequently smiles and laughs and enjoys being around people - especially children.

Loves books, bath, swinging and music, including a toy piano that he frequently uses.

He also is very attached to his “Mr. Dog” (a dog blanket). He carries it around the house with him and sleeps with it at night.

Constantly has something in his mouth (usually the dog blanket)

Uses sign language for more and eat and visual cues for things that he wants.

Uses static communication boards with pictures to request objects and a voice output device GoTalk 9

Demonstrates receptive language skills

Vocalizes a “mmmm” sound and laughs

Grinds teeth

Was not born with protective reflexes so falling is a huge concern

Wears braces that extend just beyond his ankle.

He eats a well-balanced diet and does not have any food aversions. He enjoys eating.

He also maintains a predictable sleep schedule with around 10-12 hours of sleep per night.

Requires a lot of sleep and still needs a nap at almost five years old

Severe acid reflux as a child

High and low tone

Takes Miralax daily for constipation

Large head measurement

Extra fluid around the brain that resolved itself

Father was genetically tested because it was on the Y and does not carry the gene, told that this was not passed on genetically from him

Extremely scared of the song “Happy Birthday,” the tune of the song, and if someone says, “Happy Birthday.” Scared to the point of throwing up.


Name:   Dyan

Birth Date:   May 6, 2010

Parents:   Natalia and Marcelo

Reside:   Georgia

Date Diagnosed:   January 2011

Milestones:

*Started walking at age 3, but crawls most of the time.

*Drinks from a cup and straw assisted.

*He is non-verbal but points at stuff he wants.


Child's Name:
Elijah Newland
Birth Date:
27 May 2009
Parent's Name(s):
Jerry & Maria Newland
Siblings Name(s):
Other Affected Family Members:
Mother is carrier.
Reside:
Utah
Date Diagnosed:
October 2012

Name:  Everett

Birth Date:  October 18, 2007

Parents: Scott and Heather

Siblings: Natalie, 5 1/2 years old Caroline and Molly, 4 year old fraternal twins

Other affected family members: Everett's maternal cousin, Tyler who was born July 16, 2002 and passed away on January 15, 2003 from respiratory failure as a result of pneumonia.

Reside: Virginia, U.S.A.

Diagnosed:  April, 2008 with MECP2 Triplication Syndrome; a more rare and severe form of the disorder

Milestones:

At 9 months, can roll from his back to his side, suck his thumb, track toys occasionally, look toward a loud noise occasionally, will smile sometimes when tickled. Can pick his head up for brief moments while being supported in a "burp" position.

Information:

Neonatal:  Large for his gestational age (was born at 37 weeks, 3 days and was 9 lbs. 5 oz.), breech presentation at birth, excess amnionic fluid.  All prenatal tests were normal, even non stress tests and sonograms.

Birth:   C section because of breech presentation, low apgar scores (4, 5, and 6), VERY weak cry, was admitted to NICU for observation because of slight respiratory issues (he was grunting). Mild dysmorphic features noted: odd hair line, recessed chin, very large cheeks, low set ears, flat nasal bridge, mottled skin.

-Two days after being born, a NICU doctor became suspicious of a possible bowel obstruction because Everett's tummy became severely distended. So he was transferred by ambulance to a more advanced Children's Hospital in our area for more testing and possible surgery.

- Barium enema found nothing, but he contracted the MRSA virus from a line put into his umbilicus for iv access, so he was hospitalized for 18 days after birth to treat the infection.

- Severe feeding issues upon coming home. Couldn't nurse because of facial features (recessed chin, high palate, prominent upper gumline) and suspected low muscle tone. Tried feeding breast milk through bottle and would choke, cough and vomit at every feeding. Diagnosed with failure to thrive because of steady weight loss.

-1 week after being home, hospitalized in PICU for aspiration pneumonia for 10 days. Swallow study done before returning home, and was found to have severe reflux and swallowing issues, so we began using a thickener called Simply Thick (Honey thick) to thicken the breast milk so he could safely swallow it. A milk protein allergy was also diagnosed (no family history)

-Began seeing many specialists who were all suspicious of a genetic disorder. Many tests sent out.

-Mid December, 2007, diagnosed with partial bilateral hearing loss. He can hear anything above 50 decibals. Still unsure whether this is due to the disorder or the harsh antibiotics he was on for MRSA.

-Mid December, 2007, also diagnosed with a sight delay by a Genetic Opthamologist at the National Institute of Health. Also noted as having larger than average corneas. Otherwise eyes are structurally ok. Both eyes do react to light.

-December 31, 2008 while travelling home from visiting family for Christmas in western New York State, Everett began to struggle severely to breathe in the hotel room where we were staying to break up the trip. In the Emergency Room, as the medical team was trying to intubate him, Everett went into cardiac arrest for 2 minutes. He was revived, but was critically ill, so was soon Life Flighted in a helicopter to Children's Hospital of Pittsburgh in Pennsylvania.

-Two days after arriving, he began to steadily decline. He was taken off the Ventilator and put on an Oscillator, and finally he was determined to be so gravely ill that the decision was made to put him on ECMO (heart lung bypass).

-Stayed on ECMO for 15 days, a ventilator for 7 weeks, and a drug induced coma for 7 weeks as well. Was found to have suffered Acute Respiratory Distress Syndrome as a result of Influenza B, and Stentrophomonas Maltophilia infections. Two chest tubes put in, and hand splints fitted for fear of muscle spasticity.

-Finally stable and ready to be transported by ambulance back home to our Children's Hospital in Northern Virginia after 8 weeks in Pittsburgh on February 25, 2008.

-Spent next 4 months hospitalized in Intermediate Intensive Care Unit at our Children's Hospital. Many attempts at nasal duodnum (ND) feeding tubes made, all ended up in choking, belly distention, and subsequent lung complications. Everett was diagnosed with Chronic Lung Disease.

-Finally, in late March, surgery was performed to place a Gastric Jejunal feeding tube in his tummy, and an ileostomy and mucous fistula also on his belly because of severe motility issues. A pseudo obstruction is suspected in his intestines. During surgery, the surgeon noted that Everett's large intestine (colon) was enlarged and dialted and completely full of waste matter.

-April, 2008 finally received diagnosis of MECP2 Triplication Syndrome. Were told Everett is only one of 7 known worldwide.  Everett's mom also has a skewed X chromosome making her a carrier for the disorder.

-After two more pnemonias and one more sepsis, finally an Immunologist was consulted and Everett was diagnosed with a B cell immunodeficiency. He currently receives immunoglobulins once a week through a home infusion set up

-Will be fitted for hearing aids in the near future to assist hearing loss.

Good News- Everett has been steadily gaining weight, and has fought off one pneumonia successfully with the help of several meds at home since being discharged on June 20, 2008. He is on 1 liter continuous oxygen at home currently, but has tolerated trials of being off for brief minutes very well recently. He gets fed through the J-tube continuously round the clock, with the G-tube being used to drain gastric fluid. His ostomy is working very well and he is so far distention free since mid June! We will be travelling to Cincinnati, Ohio's Children's Hospital at the end of August, 2008 to be seen by the Immunological team and the Gastroenterology team for more testing to see if there's anything more we can do to help Everett in those two areas.

Please visit Everett's website read more of his story and see pics of his journey.

www.caringbridge.org/visit/everettallan

Update: April 2009

Everett is now 18 months old. A lot has happened in Everett's life since his profile was first posted in July of 2008. He remains relatively stable medically. He does continue to have frequent hospital stays which he, and his family, seem to be adjusting to better and better with each admission. His longest stint at home has been three months which has occured two separate times.

Everett's weekly infusions of immunoglobulins have been helping him immensely, especially with his fragile lungs. Although he is still dependent on oxygen 24 hours a day via a nasal cannula, he has managed to get through the cold and flu season without any major lung issues! Hooray!

Everett's biggest challenge medically in the past few months have been GI issues. He still is fed through a surgical gastric jejunostomy (the g is to drain and the j is for feeds) but after getting a stomach bug right after Christmas, his gut shut down with complications from his chronic pseudo-obstruction and he endured another 6 week stay in the hospital with a good portion of it on TPN iv nutrition. Everett and his family were able to go to Cincinnatti Children's Hospital in Ohio in November to meet with a nationally renowned motility specialist who works with children with rare genetic disorders. It was a complicated and stressful trip, but very worth it as his family gained much knowledge and insight into Everett's condition.

The most recent medical news with Everett is that he just had a medi-port surgically placed a few weeks ago. After 11 central lines over the past year and a half, and 5 septic line infections, it was time. He is healing well, and his medical team is so very relieved to know that Everett will always have easy permanent access now.

Developmentally, Everett is functioning approximately on the level of a 4 month old. He has rolled over from back to front twice but still cannot sit assisted or unassited at all due to his low muscle tone. He now has glasses and a hearing aid in his right ear which his family truly believes enhances his awareness to his world! He loves toys with lights and sound and will frequently smile when playing with him. He also loves to be tickled! His favorite thing in the world though, are his thumbs, which he has in his mouth nearly all the time! His family is glad he is able to self soothe, but his poor thumbs are an absolute mess!

Everett's family has begun introducing sign language to him and plan on working with the PECS system once he is able to tolerate sitting more. Everett receives intense PT, OT and speech therapy every week. On the short term it is hard to see progress because things happen so slowly for Everett, but when his family looks at how far he has come since last year at this time, it is absolutely amazing to see his achievements!

For more information on Everett's continuing progress, please visit his website: www.caringbridge.org/visit/everettallan


Name:    Freddie

Birth Date:   September 21, 2013

Parents:    Amy and Andy

Siblings:   Payton (deceased), Promise, Andrea, Sophia

Other Affected Family Members:    Older brother, Payton (6/14/2005 - 8/27/2006) had triplication of gene and died due to complications with breathing.  He had a trach and gtube.  Sisters, Promise and Andrea, are both carriers.

Reside:    Missouri

Date Diagnosed:    October 21, 2013

Milestones:

*Just starting to track things with his eyes and puts his hands in his mouth.  Starting to coo and smile.  - 4 months

Other Information:

*Freddie, like his older brother who had the triplication gene, spent 5 weeks in the NICU for not eating.  Hospitalized again (Dec. 2013) during which he stopped breathing and was on oxygen.  Swallow study determined that he was aspirating and was scheduled to get a gtube.  Mom prays every day that they will find a cure to help him and everyone like him.

 

 


Child's Name:   Gabriel (Gabe)
Birth Date:  November 29, 1995
Parent's Name(s):   Carey and Connie
Siblings Name(s):   Brianna and Laine
Other Affected Family Members:  none
Reside:   Two Harbors, MN
Date Diagnosed:   December 2008
Milestones:
Gabe was very slow in developing.  He eventually learned some signs (for the things that were extremely important to him, such as eat, drink, more, book).  He also (at his peak) had the beginings of speech.  He had sounds for his siblings (Na-Na for Brianna and La-La for Laine.  He also said mama, da-da, ah-duh (all done), nigh-nigh (when he was tired), and num-num (for food).  He could also let his feelings be known by ignoring (or looking away when he didn't like something) or by smiling or laughing and clapping his hands when he was happy, to crying or showing displeasure by the tone of his voice.  His receptive skills have always been MUCH higher than his ability to communicate himself.
As far as physical milestones go, he was very late in developing there, too, but was eventually able to roll over, and was able to crawl in his own way.  He moved either by first moving his arms forward, and then pulling both legs at the same time (in a sort of a scoot or drag).  He would also crawl by moving his right arm and leg at the same time, and then alternating to his left arm and leg at the same time.
He also got to the point where he could stand with assistance, having good side-to-side balance, but not very good front to back balance.  We would often stand him up in front of our legs and he would balance there for a pretty long period of time.
At his best, he also got pretty good at using his gait trainer, almost running in it.  His therapist actually put the brakes on to slow him down. 
Previous to his regression, he was tall kneeling, and was beginning to try to pull to stand at the side of furniture. He was also self feeding finger foods and was begining to use a spoon.  We were working with a cup without a cover (to teach him to drink without sucking through a lid.)
Other Information: 
Gabe was a very happy little boy that loved to play with balls, look at books, play in the water, spin tops, watch sports, and EAT!!! 
He had a smile that came from his toes, and would often giggle until he lost his breath (and tone) and tipped over.  We really miss that little boy that used to be....(but are still so very greatful for the boy that still is here with us... if that makes any sense).

Gabe has had several issues throughout his life, but his major problems have been with his respiratory and neurological systems. 
In addition, he had trouble with his ears and eventually needed tubes in both. 
He also had blocked tear ducts and had tubes placed in them as well. 
He also had strabismus surgery on his eyes.  
He had tonsils and adenoids removed. 
His testicles did not descend, so he had them brought down and two hernias fixed at the same time. 
He had bilateral osteotomies done on his hips. He has very loose connective tissue, so we have always had to be very careful with his shoulders, elbows, and hips.
He has a scoliosis of his spine.
He has also always had trouble regulating his temperature, so we have always had to watch him very closely (so he doesn't get either too hot or too cold) 
 
He started a regression several years ago, and has lost all of his skills, other than the ability to nod and shake his head and say uh-huh (or uh-uh).  He has gone from self feeding to a g-tube, and eventually to a g/j tube.  He also has a central line that delivers ativan via a CADD pump on a continuous basis to help him with his dystonia and seizure issues.
These days, he is more often on oxygen than off of it. We give frequent nebulizers and vest treatments, and suction him several times a day in order to trigger a cough and get the crud up and out of his lungs. 
His life is not easy by any means, so to be completely honest, if I could change things for him, I would.  However, we can't change things for him, so we are immensely thankful that we have him with us, nonetheless.  He is a definite gift from God who has changed our lives immeasurably.  He is the center of our world, and we love him with every fiber of our beings.

Name: Hayden Scott Williams

Birth Date: June 15, 2010

Parent's Name(s): Nathan and Hanna Williams

Reside: Senatobia, Mississippi

Diagnosed: July 2010

Other Information:

Hayden was born with a high CRP, and the doctors did not know what was causing it.  For weeks, they have done several tests that did provide any answers.  Geneticists came in and did a test a week or two after he was born.  We found out he was diagnosed with MECP2 two days ago.

We still do not know what type of difficulties he may face in the future, but we did notice his arms and legs were really blistered where he had been poked with IVs.  They swelled and began to bleed and excrete puss.  The doctors are still unsure of why he had such a reaction.


Child's Name:
Isaiah
Birth Date:
August 8, 2004
Parent's Name(s):
Paula/Stephen
Siblings Name(s):
Stephen, Eugene
Other Affected Family Members:
Don't know
Reside:
Washington, DC
Date Diagnosed:
March 2013
Milestones:
Sat up at 12 months months / walked at 23 months

Name:  Jacob Diego

Birth Date:   February 4, 2006

Parents:  Luke and Sarah

Siblings:  None

Other affected family members:  None

Reside:  Maine, USA

Diagnosed:  March 2008

Milestones:

Sat at 11 months

Crawled at 1 1/2 years

Pulled to stand at 1 1/2 years

Information:

Jacob's MECP2 duplication is on his Y chromosome and, surprisingly, is not carried by either parent.

Low muscle tone since birth (was retaining urine in utero due to the low muscle tone which we now know presented as low amniotic fluid for Sarah)

Developmental delays but continues to progress well

A very happy and social boy!

LOVES to eat everything and often.

Small in weight and height for his age

Loves books, music, and the bath

Likes to play wild and laughs and signs for more when you stop.

Vocal but no words besides mama and papa which he says a lot, but not used at the person... more as a babble.

Loves to swing and is especially vocal when he does with big screams!

Tends to be gassy and was constipated for the first year but is not anymore.

Likes to walk assisted around the house and outside and will soon has a walking device.

Update: April 2009

Jacob Diego turned 3 in February.  He has learned to climb and loves to climb the stairs and up onto the couch and chairs.  He is very busy!

Jacob has started incorporating sign language into his daily life.  He now can sign:  More, Eat, Book, Music/Singing, Papa, & Ball.  He understands and can do with help:  Mama, All Done, Tired, Thank you, Car, On, Kitty, Baby and a few more.  He has become very vocal with no words but always "talking".  His family has just started using a 7 level communicator so they are waiting to see how that goes.

Jacob Diego is now interested in baby dolls and stuffed animals which is new, he likes to give them hugs.  Jacob is still using his walker and making slow progress.  He is beginning a new program at the local Easter Seals where they have a "Lite Gate Treadmill".  He will do this for 6 weeks and then his family will see if it helps him with independent walking.

Jacob continues to be very healthy, happy, and social.  He still receives PT, OT and Speech.  His family also takes him to the Osteopathic Doctor and to a Therapeutic Eurythmist.  He has responded very well to both.

Jacob is in a Mom & Toddler school group at the local Waldorf School in Maine.  This has been AMAZING for his interaction with peers, it has been life changing for him and his family!  He will start a 2 day pre- school program either at the Waldorf School or at a Waldorf inspired program next year in addition to his therapies.


Child’s Name: Jaden Deshaun

Birth Date: May 11, 2007

Parent’s Name: Dominique

Siblings: None

Other Affected Family Members: None. Mom is a carrier.

Reside: Virginia

Date Diagnosed: April 2009

Milestones:

*Sat up supported – 7 months

*Crawled – 11 months

*Walked – 15 months but constantly fell (wears a helmet occasionally)

*Presently – walking has improved tremendously and falling has decreased approximately 90%.

*Jaden did say “Doctor and Kitty Cat” at 18 months but has not had any clear words since. He currently babbles excessively.

Other Information:

*Jaden loves music and dancing, being outside, books, playing in the water, eating any and everything, colorful things (especially women’s shirts) and art work, loves to laugh and smile, is curious and gets into everything, interacts with people, has difficulty potty training and needs assistance with utensils.

*Has suffered year round with excessive head congestion and mucus and one bout of pneumonia.

*By 15 months, it was like Jaden was in a fog so his mom took him to a chiropractor for an adjustment and within 24 hours, it was like the fog had lifted and the sun came out. Jaden now makes eye contact and is alert and aware.

*In addition to his primary doctor, Jaden sees a pulmonologist, neurologist, and physical and speech therapist. He has also been seen by a specialist at Children’s Hospital of Boston for MECP2.

*He attends a special needs program in Virginia called PEEP.

*He is a restless sleeper and has sleep apnea, acid reflux and still has a noticeable startle reflex.

*His surgeries include undescended testicle in May 2008, removal of adenoids in June 2008 and removal of tonsils in April 2011.

*Recently, mom has discovered “Transfer Factors” (listed in PDR found in all doctor offices) by a company called 4life. Jaden takes their Recall formula (for healthy brain function) and Classic formula (to balance/strengthen the immune system). He has been on both of these formulas since Memorial Day 2011 and has been mucus free and has had a second awakening since taking them as his head is clear.


Name: Jay Hulsizer

Birth Date:  June 29, 2006

Parents:  Mindy and George

Siblings:  Jarod

Other affected family members:  None

Reside:  Longview, Washington, USA

Diagnosed:  May 13, 2009 after bloodwork was done at Doernbecher Children's Hospital in April. Jay was in the hospital for Pneumonia and Influenza Type B

 Milestones:

Began making sounds at 6 months. Lost some language, babbles now.

Never crawled

Began walking at 2 years, 4 months.

Information:

Jay is a very happy, social little boy.

Jay loves to play piano

He loves music and to dance

He has a favorite toy, his "baby" Glow Sea Horse

Jay's first way to communicate was through eye contact

He also uses a few signs, "hungry", "Jay's turn", "sleep", "bath"

Jay laughs and makes "mmm" "bbb" sounds.

He sometimes says "mama" or "baba"

Grinds his teeth occasionally

High tolerance to pain

Cries only when he is not feeling good

Has had febrile seizures and recently seizures without a fever.

Has had an Ng tube since April 2008.

Chews on everything, including his hands if nothing else is available.

Loves animals

Squeals when he is excited

Has had 10 hospitalizations mostly for pneumonia and RSV.

Low muscle tone

Loves to be in the water

Lots of gas, we have to vent his Ng tube often

Some repetitive movement with arms and head

Loves to read, he will "read" for hours on his own.


Child's Name:    John Thomas (JT)

Birth Date:    March 4, 1997

Parent's Names:   Keith & Marie

Other Affected Family Members:    None

Reside:   Florida

Diagnosed:    February 2009

Milestones:

*Walking - 4 years

Other Information:

*Loves music and watching the Wiggles and Mr. Rogers Neighborhood.

*Attends public school and is in the 7th grade.

*JT rides the bus each day and can't wait to get on it each day.


Child's Name:   Jordon
Birth Date:   June 27, 1985
Parent's Name(s):   Theresa
Siblings Name(s):   Kelly
Reside:   IL
Date Diagnosed:  2002
Milestones:
Jordon never crawled, he scooted across the floor on his back and then he began scooting to his destination on his rump. 
He began walking at 18 months.
Other Information:
He had tubes put in his ears at 17 months due to bad ear infections. 
He suffered a lot of upper respiratory infections and required numerous hospital stays. 
He spoke only a few words "Bybyby" "mommommom" and "yah".  He currently gestures and used to do several signs.  
As a young child, he loved the slide and swing set.  He would climb the ladder and go down the slide and seemed to not tire of it.  
He attended school since three and was included in regular ed for 1/2 of his day until high school.  He attended prom and walked to get his diploma. 
Post high school he began having seizures.... drop then epileptic and grand mal. 
When he is excited, he raises his arms up and down. 
Sometimes he drools. 
He has twitches all over his body and sometime his right lower lip draws down (spasm like). 
He has always suffered from constipation. 
He wrings his hands and the front of his shirt. 
He goes through boots of chewing his shirt or his sheets. 
He does not like to wear shoes. 

 

 

Name:  Joshua

Birth Date:  June 4, 2007

Parents:  Amy & John

Siblings:  Robert

Other affected family members:  None - mom & dad not a carrier

Reside:  Massachusetts, U.S.A.

Diagnosed:  6/1/09

Milestones:

Sat independently at 16 months

Rolled at 22 months

Crawled at 25 months, bunny hop

Cruising just starting at 31 months

Does not stand independently, walk or talk yet.
 

Information:

He is the only person diagnosed with his particular duplication and is de novo

Josh has Duanes syndrome, where his right eye does not move to the right.

Has glasses for nearsightedness.

He had pyloric stenosis, which was corrected with surgery at one month.

Josh has moderate reflux, and a lot of gas.

He grinds his teeth occasionally, and agressively grinds his teeth when he is eating and drinking.

Eats independently with his hands.

Does not look at objects when reaching for things.  He feels around for things.

Makes the MMMM sound.

Josh kicks his legs and pumps his arms when he is excited.

He loves music and water.

Josh has four days of EI, plus one night of horse back riding.

He loves people, especially his older brother.

 


Child's Name:   Joshua
Birth Date:   October 15, 1996
Parent's Names:   Bill and Angie
Siblings Names:   Caleb, Isaiah, Alicia, Mia and Lucas
Other Affected Family Members:  bio mom and all half siblings, cousins and aunts.
Reside:  Spokane, WA
Date Diagnosed:   2009
Milestones:  
9 months - Sat up
1 year old - Sat up independently
Never crawled.
4 years old - walked independently 
Other Information:
Joshua has a very wide gate and trips a lot so he has to be watched closely wherever he goes. 
He wears braces from ancle to toes to help with stability due to low mucle tone. 
He requires special stretches due to tight tendons in his ankles. 
Joshua has suffered from epileptic seziures and almost died at age 7 due to them.
He has a lazy left eye and constant respiratory infections. This past year he got a vest machine that has been a great help in keeping his airways clear.
Joshua is a loving, happy thirteen year old who loves his TV. 
He especially likes racecars.
He is a very big sensory seeking child who likes to rub textures with his feet and fingers.
Joshua kicks his feet and jerks his arms when happy or excited.
He loves to chew on his fingers and blankets sometimes his toys when his mom isn't looking.
He loves his food but his parents have to watch him for choking due to over stuffing his mouth.  He isn't able to feed himself with a spoon or fork due to his fingers having bad retractures of his two small fingers.
He has sleep problems as hes always afraid he's going to miss something.
Health wise he suffers from a lot of colds and sinus problems which cause him to miss a lot of school.
But at home he's a happy, loving boy who enjoys just being with his family and loves books and music.

Name:  JulioJulio

Birth Date:   June 10, 1991

Siblings:   Andres, healthy

Other affected family members:   None

Reside:   Florida, U.S.A

Diagnosed:   June 2008

Milestones:

Rolled over - 6 months

Sat unassisted - 9 months

Crawled - 11 months

Walked - 2 years

Ate by himself -  5 years

Information:

When he was 2-4 years used to get a lot of ears infections, had tubes in his ears and had adenoids removed

When he was younger used to grind his teeth

He has always suffered from constipation

Loves to watch TV, books, music

Loved to go to school

Was a healthy child until he turned 12 and started having seizures that affected his motor skills

Has been admitted into the hospital in different occasions because seizures were not controlled

When he was 15 had a grand mal seizure that lasted more than 12 minutes, aspirated had pneumonia, had sepsis, was in the ICU in critical condition for 2 months, was on ventilator.  Was diagnosed with sleep apnea/

After being in the hospital for 2 months, he stopped walking and going to school due to poor health.

When he was 16 years had to be admitted into the ICU with pneumonia caused by a grand mal seizure that lasted 22 minutes.

Was on ventilator and had to be trach in June 2008.

Requires oxygen almost 24 hours a day, except when he is sitting in his wheel chair.

Since he got trach, he's been in the hospital a couple of times with respiratory infections, ever since he got the trach his life and health have changed.

He's bed bound, very low tone muscle.

G-tube placed in June 2008 to prevent aspiration


Name:    Kaitlyn

Birth Date:    January 2011

Parents:    Kim & Dusty  -- I like my mom okay.  She takes me to my doctors appointments and all but I'm definitely a daddy's girl.  :)  He's the bee's knees.

Siblings:    8 year old sister   I think she walks on water -- whenever she slows down long enough to give me attention

Reside:    Kansas

Date Diagnosed:    December 2011 (11 months old)

Other Affected Family Members:    My mom has the same duplication but has none of the symptoms.

Milestones:   At 6 months, I had a swallow study done and was diagnosed with GERD.  I couldn't pass any of the hearing tests so at 11 months I had hearing tubes put in and am able to hear much better.  After I got them I was able to start saying things like da-da-da.  I am getting a feeding tube put in and having fundoplication surgery.  My mom will let you know how I like it.  I am not able to sit up or crawl yet but I am working really hard at home and at therapy.  Even with all that is going on I am a very happy little girl.

Other Information:   My symptoms include developmental delays -- I am not able to sit, crawl, or walk.  I have GERD and take medicine but I still get lots of tummy aches.  I have hypotonia (muscle weakness), especially in my back muscles.  I use my hands and feet when I want but mostly my mom calls me a 'wet noodle.'

 


Child's Name:

Kevin Juarez-Gonzalez

Birth Date:

06/13/2004

Parent's Name(s):

Nancy Gonzalez

Siblings Name(s):

Other Affected Family Members:

Reside:

Reading, PA

Date Diagnosed:

2008

Milestones:

Kevin has had some great achievements. He started walking at the age of 3, he does some verbal speaking & sign language. As of now, he is in the 3rd grade at the age of 8.

Other Information:

Kevin is a fun loving child that loves to interact with others.


Child's Name:
Lance Leaman
Birth Date:
June 23, 2008
Parent's Name(s):
Chad & Laura Leaman
Siblings Name(s):
Lindsay
Other Affected Family Memebers:
Mom is a carrier of MECP2 Duplication Syndrome. Sister has 1q21 Deletion Syndrome. Dad is fine.
Lance's Uncle died at an early age of 11 yo in 1981, he was diagnosed with Severe Mental Retardation at the time. I suspect he had a genetic disorder like my son has today.
Reside:
Panama City Beach, Florida
Date Diagnosed:
October 2009
Milestones:
Rolled on to tummy 3-4 months
Sat up at 11 months
Crawled at 14 months
Walked at 27 months, YEAH!!!
Not talking but is babbling still.
Other Information:
Currently, our little guy has been going through a growth spurt. He is amazing us everyday with his abilities, he is just doing it at his pace.
Last Year 9/2009 we had Lance do a few genetic tests to rule out what was going on with him and we got back a result of Xq28 duplication involving MECP2? Unfortunately that Doc did not do any genetic counseling or patient education for us with the diagnosis he gave to us over the phone! It still is unbelievable to me today. Anyways, I just wanted to tell you all our brief history:
Pregnant up to 41 weeks, induced Labor
Lance was in NICU for 3 days for observations
At 4 months hospitalized for double ear infections
At 10 months did a tubes in the ears surgery and again at 25 months old
Performed two MRI
Hospitalized last year for Salmonella poisoning (9/09) and Bronchitis(12/09).
This week we are doing surgery for a Hydrocele, fun!
This year has been a healthly year for Lance!

Child's Name:    Larry

Birth Date:    October 26, 1988

Parent's Names:    Mataska

Other Affected Family Members:    His nephew, Symija

Reside:    Mississippi

Date Diagnosed:    November 1, 1988

Milestones:    He can't walk and can't talk


Child's Name:  Levi Jones

Birth Date:  October 13, 2008

Parent's Name(s):  Chad and Alisha

Siblings Name(s):  Lauren (10) and Lake (6)

Other Affected Family Members:  Waiting on test results to see if mom is a carrier but older brother Lake is fine.

Reside:  Mckinney, Texas

Date Diagnosed:  2-23-2010

Milestones:  Levi was able to roll back to front at 8 months old and hated being on his tummy, so we constantly played a game of "flip the baby".  Finally, at 14 months he was able to roll tummy to back.  He was also able to sit up at 14 months if we placed him in a proper setting.  Three weeks ago he picked up a Cheerio and ate it for the first time.

Other Information:  Levi was born with a raised CRP level, which indicated infection in his body but clinicaly seemed fine.  He was re-hospitalized just 24 hours from going home from the hospital because of high fever and low oxygen levels.

Levi had surgery at 5 months old to reconstruct his uretha tube (he was born with hypospatious).

He had surgery at 8 months to place tubes in his ears.

Surgery at 11 months to correct his strabismus in his right eye.  When they got in there to do the surgery, they found that the muscles in his eye were even in the wrong place.

We assumed Levi was behind developmentaly due to all the surgeries but got ECI involved when he was 8 months.  It was then that we learned what Hypotonia was.  Levi kept getting mystery infections where he would run 102 fever for 3 days, but had no other symptoms so the Dr. couldn't figure out what was going on.  Just three weeks ago he got his first respiratory infection.


Child's Name:    Levon Henry

Birth Date:    August 15, 2009

Parents:    Joseph & Dyna

Siblings:   Maceo Matther (TWIN)

Other Affected Family Members:    n/a

Reside:    California

Date Diagnosed:   February 28, 2012

Milestones:

*Levon has always been considered to have global delays and hypotonia so he has just developed at a much different pace than his twin, Maceo.

*Crawled on his own at 13 months.

*He is not yet walking.

*He is now able to feed himself almost all foods but does have to be monitored.

Other Information:

*Levon currently has, through GGRC:  OT & PT twice a week, one in home session with an EI "Early Intervention" Teacher and also one weekly session with a speech therapist who specializes in feeding.

 


Name:  Liam

Birth Date:  August 12, 2007

Parents: Jürg and Wendy

Siblings: Sophia

Other affected family members:  Mother is carrier.

Reside:  Milwaukee, Wisconsin, USA

Diagnosed:  October 2008

Milestones:

Sat - 14 months

Crawled - Not yet

Walked - Not yet

Information:

Liam is a happy boy when he feels good.

Like many of the other boys, he flaps his arms when he is especially happy.

He uses crying to tell us that he is uncomfortable or unhappy, but when he feels good he rarely cries.

Liam is VERY vocal when he is in a quiet place.

He is not verbal, does not yet sign, and is just beginning to understand or react appropriately to what we say to him.

He used to say mamamama to mean mama and momomomo to mean more, but he has since stopped. He does put his arms up if you ask if he would like to come, not consistently though - usually only at therapy when he wants to be rescued!

Liam makes eye contact and plays some intentional baby games with help ie. "So Big".

He loves to be around people, especially his sister.

He has no stranger anxiety and loves everyone who is nice to him.

He does recognize special friends and family (as shown with smiles and arm waving).

His greatest joy in life is pulling hair. (He does not understand the word or sign forno yet, which makes redirecting this behavior a bit challenging.)

Also watching other children cry makes him giggle with glee. (Not sure why...)

Liam loves to play with shiny plastic toys that have something inside (usually little balls) that make noise.

It is only recently that his OT and family have gotten him to tolerate looking at or touching toys made of wood or stuffed animals. He now actually seems okay with wooden toys. All of his stuffed animals have been adopted by his sister since he still fiercely dislikes them.

Liam is not a very good sleeper. He does sleep a 9-12 hour night. But he wakes between one and six times to nurse. He goes right back to sleep once he has nursed.

Development:

Liam sees an OT 2x week (45 min sessions) PT 2x week (1 hour sessions) and ST 2x week (for speech and feeding -45 min sessions).

Liam is making great strides in all of his therapies.

In OT he works hard to overcome sensory defensiveness - touching objects of all sorts and trying to use his hands and arms to do some weight bearing.

He is recently able to be on all fours - assisted.

We believe that he will walk before he crawls because his legs seem to be much stronger than his arms and his sensory defensiveness in his hands is so strong that it tends to hold him back.

He is manipulating toys well.

He visually tracks very well now and is noticing toys across the room.

He reaches for things and grasps them easily.

In PT we work on walking quite a bit.

Liam is doing standing and practicing weight shifting.

He is doing quite a bit of assisted walking, but still needs his assistance to be at the hip level.

He is getting AFOs this month since his feet are turning in a bit and the arch collapses when he walks.

He is taking steps in a gait trainer and is scheduled to get his own in November 2009.

He is making constant gains and we hold great hope that he will walk independently.

He is also working on righting and protective reflexes when he is sitting. ST is probably where Liam struggles the most.

He does fantastically with eating purees, but we are having difficulty moving to small chewables.

We also struggle with liquid intake. Most of his ST seems to be focused on feeding since we do have so many struggles, but his therapist does work on speech as well.

We do some signs for Liam and he seems to be starting to realize that they have meaning.

Health:

Surgeries:

Orchidopexy September 2008

Ear tubes placed November 2008 (for repeat ear infections. Only 1 infection since.)

Tonsil/Superior Adenoidectomy June 2008 (required oxygen for about 10 days after surgery)

Pulmonary:

No respiratory problems noticed until 1/09.

2 hospitalizations for bronchiolitis during winter 2009. Has since needed oxygen during sleep for every cold he gets. Oxygen has dropped as low as 40s and 50s without.

Diagnosed with mild sleep apnea - we are hoping that the t&a surgery will alleviate this.

Will repeat sleep study in Fall 2009 to determine this.

 Neurology:

Liam has had no seizures that we know of.

He did some strange eye rolling several times a day until he was about 18 months old. (He no longer does the eye rolling.)

He has had 2 normal eeg tests, but we watch him closely for signs of siezures.

 Feeding/Swallowing/ENT:

Liam showed trace aspiration in swallow study February 2008.

Liam had an aspiration incident(while nursing) in April that took about 7 days to clear and required oxygen for more than a week.

He eats purees and lumpy purees.

He eats between 8-12 oz of pureed food 3 x day.

Breastfeeding is main source of liquid intake. Does drink from the Haberman Feeder and an open cup - at times.

Often he refuses everything except nursing.

In the Fall of 2009 we will be weaning him and have a dietician and GI doc on board to help if we end up needing a tube for liquid intake.

GI:

Until after Liam's 1st birthday, he had severe constipation.

Currently, takes Prilosec for reflux. Does have constipation occasionally. Does not spit up. Does not drool excessively.

Scheduled for a new swallow study in Fall 2009.

Hematology:

Liam was recently diagnosed with a mild platlette aggregation defect.


Child's Name:   Lincoln
Birth Date:   October 8, 2008
Parent's Name(s):    Brookes & Nick
Siblings Name(s):  None
Other Affected Family Members:    None known at this time.
Reside:   Sault Ste. Marie, ON Canada
Date Diagnosed:   Early 2009
Milestones:   
Lincoln faced a whole bunch of challenges before he came into this world.  At 20 wks gestation, his parents were told that his limbs weren't growing at the rate of his body. They were told that Lincoln would have a form of Skeletal Dysplasia, but until he was born they wouldn't know the full entent.
Lincoln was born via C-Section due to his Breech Presentation.  At birth he weighed 5lbs and was only 13.6 inches long.
Immediately upon birth, he had nursing issues due to a poor latch and high palette.  He stayed in the NICU for 3 weeks after his birth until he was able to get a special car seat because of regulations in Canada, he was too short for your "normal" infant carrier.
After weeks of waiting they were finally able to meet up with Genetics at Sick Kids Hospital in Toronto, ON. They ran all sorts of bloodwork to determine what caused his extreme short stature.
It was when those results came in that it was noticed that Lincoln was missing a protein SHOX which allows the long bones in the arms and legs to grow and that he also had the MECP2 duplication.
The missing SHOX protein, seems to be something that was passed down the Maternal line since his mother is a carrier.  On her X that was passed to him, it was missing this protein.  Being a boy, he only gets one copy of the X and he ended up getting his mother's that was corrupt.  His Maternal grandma is currently being tested to see if she is also a carrier.  Lincoln is the first male to be born into our family from a "carrier" so his short stature is most likely caused by this.
Lincoln is the happiest baby his mother has ever seen.  He only ever seems to cry when he's hungry, wet or tired.  His smile is contagious and you can't help but fall in love with his big BLUE eyes.  Every time he meets someone new, his eyes seem to hypnotize them and they don't even realize he's different.
He's relatively behind in all aspects of development, and at this stage in life they are unable to determine whether it is the MECP2 duplication causing these delays, or his extreme short stature.
He loves to be swung around and loves looking at things behind him.
When he gets excited, he flaps his arms and kicks his legs.
He just started teeth grinding.
Will bite just about anything and his parents have learned not to stick their fingers in his mouth.
Bathtimes are his favorite times of day.  If they happen upon a really grumpy day, they been known to bathe him more often as that's his favorite place.
He loves teething rings, and after 14months his hands finally reach his face, making his thumb the most exciting thing to chew on.
From day 1 he sleeps roughly 10-12 hrs a night without waking and still seems to enjoy 1-2 naps a day.
Anytime he hears a digital camera turn on - he shows his adoring smile, the big teeth he's sporting.
He will eat just about anything at anytime, however, he doesn't seem to like to chew and tends to swallow things whole, so he is always stuck with purees and soft solids.
He sees an OT, PT, and infant development every two weeks.  The main goal at this point is getting him to sit unassisted and to try and play with objects from hand-to-hand.
Other Information:
Lincoln faced his first hospitalization in March 2010 for Aspiration Pneumonia. As a result, the doctor ordered a swallow study. It has been noted that because he tires so quickly during feeds, whether it be because of poor muscle tone or lack of interest, he tends to be vulerable to aspirating. They have suggested that he get a G-Tube for feeding. So alas, now they are waiting for yet another referral and procedure.
Lincoln's family has learned over the last year and a bit that they should never take anything for granted and to cherish each moment with their little man.  He is definetly the light of their lives.  Every smile that comes across his face is like their own personal rainbow, and it melts their hearts.

Name:  Lucas

Birth Date:  December 16, 2006

Parents:  Chad and Jennifer

Siblings:  Caden (09-25-06)

Other affected family members:  his brother, Caden

Reside:  Texas, U.S.A.

Diagnosed:  August 2009

Milestones:

Sit up at 10 Months

Crawled at 20 Months

Walk with walker or cruising on walls, tables, etc. - 2 years

Sippy cup at 2 1/2 (Huge for Lucas)

Information:

2 ICU stays due to RSV and Pneumonia - both required ventilator

Gets sick very quickly and very badly

Vocalizes MAMA, DADA and UMM

Very weak cry since birth and still today

Hypotonic - very weak muscle tone

Often constipated

Loves to chew on finger and gag himself

Loves to EAT!!  Over stuffs self and chokes often

Repetive arm and leg flapping when happy or watching TV

Very good disposition!  Very happy boy with a great smile

High pain tolerance

Loves bathtime, music,lights and books

Good sleeper at night and naps

Loves family and friends and enjoys to be cuddled by parents.

Likes to play alone in his room

Receives OT and Speech 1 time per week from ECI


Name:   Lucy

Birth Date:   September 27, 2011

Parents:   Melinda and Lucas

Siblings:   Dawson

Other Affected Family Members:   None

Reside:   Utah

Date Diagnosed:   October 2011

Milestones:

*Lucy smiles/laughs and makes cute sounds like a kitten.

*She unfortunately isn't mobile and cannot sit up or move really well.

*She does bat at objects, but cannot do much more than that.

Other Information:

*Lucy was born with Xq22-q28 duplication and triplication on the end of 28.  At this point, her parents are unsure of how many copies of MECP2 were copied.  Could be up to 5 copies, waiting on test approval to find out.  Lucy's inactivation didn't go in her favor according to test results and what her parents have seen with her developmentally.

*She developed hydrocyphelus at 7 months old and has a shunt, Cortical Visual Impairment, Dysphagia, g-tube dependent, and oxygen at night.

*Her 2 month vaccinations triggered seizures to start.  They turned into infantile spasms and a year later became under control.

*She has been hospitalized with respiratory problems that were life threatening.

*She is a very sweet girl who has lots of delays.  She is a sweetheart who hardly ever complains.  She is a little miracle and her parents hope that a medicine will help her progress in the future.

 


Name:  Luke

Birth Date: June 27, 2001

Parents:  Brent and Janet

Siblings:  Sarah, 1 year older than Luke

Other affected family members:  We don't know, since Luke is adopted.

Reside:  Virginia, U.S.A.

Diagnosed:  May 2008 with MeCP2 Duplication Syndrome, Ataxia, Moderate-Severe Mental Retardation, Seizure Disorder, 2006 Autism Diagnosis

Milestones:

Crawled at 15 months

Walked at 2 1/2 years old with the help of P.T. and a Hula Hoop!

Has spoken 5 words, but has lost all of them since developing seizures at the age of 3 1/2.  Uses the PECS system to communicate.

Can use the bathroom with assistance, but still wears a diaper.

Does not talk, but uses ASL and knows the sign for "more". It has become his universal sign for anything that he wants. :)

Can feed himself, but needs assistance with a fork and to ensure that he doesn't overstuff his mouth.

He has choked many times from overstuffing his mouth.

He LOVES to eat!!

Information:

Luke has low muscle tone, but gets around great.

He has out turned flat feet, small nose and mouth, a high palate, and a bifid uvula.

Luke has had his share of illnesses. The winter months are the hardest and he usually gets pneumonia.

He has become healthier the last 2 years.

He has had 3 sets of tubes put in his ears. We always ask for the semi-permanent type so they last 1-2 years.

Constipation has been a problem since infancy, but we use a laxative called Miralax which seems to keep it under control. We do use a glycerin suppository occasionally.

Luke has many characteristics of Autism, which include; hand flapping, stemming, obsession with certain items and rituals and routines. He will isolate himself from people if overstimulated.

Luke is very loving and likes to have the ones he loves around him!!

Loves to be tickled and giggles alot.

He loves Disney (cartoon) movies and books.

He plays with some of his toys occassionally.

Luke LOVES the beach and swimming in the pool. This summer he is experimenting putting his face in the water and working on the concept of holding his breath. He loves to jump to me in the pool and then gets all limbs going! He has a great time.

Allergies: Singulair, caused Luke to have 2-20 drop seizures per day. Could not tolerate cow milk until the age of three.


Name: Matthew

Birth Date: September 2008

Parent's Name(s): Paul and Ardena

Reside: Southern California

Diagnosed: June 2010

Milestones:

He holds his own bottle, can sit when assisted, and is starting to do a low crawl.

Other information:

Mother is going to be tested to see if she is a carrier and an older brother will be tested as well.


Name:  Maxwell (Max)

Birth Date:  October 2003

Parents:  Darren & Lori

Siblings:  None

Other affected family members:  None

Reside:  Toronto, Canada

Diagnosed:  December 2007 

Milestones:

Sat - 8 months old

Stood - 1.5 years old

Walked - 3 years old (with 6 months of private PT)

Information:

Often caught colds before walking started.

Had adenoids removed, but still very congested on a good day.

Has low tone or hypotonic.

Underdeveloped gross & fine motor skills.

Avoids eye contact, but getting better.

Large head circumference, but charted growth and been consistent. While considered overgrowth, xrays at 2 years showed bone growth was under developed by about 6 months (just means going to be a big boy).

Does enjoy eating though and likes good meals (Lori has chefs paper, so gets to eat very well).

Likes trucks, music, books, some television(short attention span).

We have 2 cats and he likes to chase them and pull their tails, results in a few scratches and some tears.

He does not speak, but he laughs a lot.

Also has problems with constipation.

Non-MECP2 related:

Moderately severe hearing loss in both ears. Wears hearing aids  (when he is not trying to eat them).  Diagnosed at 2 1/2 years by a sedated hearing test.

Generally happy and loves his extended family, grandparents and aunts/uncles/cousins. Very social.

Diagnosed with Autism

Broke his foot and did not tell anyone -- high pain threshold

Update: April 2009

Max has started public school.  His parents have choose an all Special Needs school instead of integration.  Max is responding well to the teachers.  They are using a picture exchange system for communication, as he is still nonverbal.  Max's comprehension of simple commands is getting better.  He has been in Music Therapy for about 2 years and will start working with a Speech pathologist regularly soon.

Max does not get sick often, he can fight colds without any antibiotics.  He gets saline mists and Tylenol for fevers on occasion.

Toliet training has begun with sporadic success.  Max has good problem solving skills and a desire for independence.  His parents recently joined a local fitness center...for Max and for them.


Name:    Meghan

Birth Date:    April 4, 2011

Sibling:    Ashleigh

Other Affected Family Members:    None

Reside:   Maryland

Date Diagnosed:    September 6, 2011

Milestones:

*Holding head up well - 5 months old

Other Information:

*Meghan was admitted to Johns Hopkins Hospital in July 2011 for "failure to thrive."  Many tests later, they discovered that she had nodules on the ventricles of her brain, mild laryngomalacia, hypotonia, and obstructive sleep apnea.

*She now feeds through an NG Tube and is on O2 when asleep or unattended.

*Meghan's duplication translocated to her #13 chromosome so she doesn't have a chance of the X inactivation that most girls would have.

*Meghan began sitting up unassisted at 18 months.

 


Name:    Neil George

Birth Date:    August 8, 2010

Parent's Names:    Meg and Mike

Siblings:    Twin brother Luke

Other Affected Family Members:  None, both parents have been tested and are not a carrier.

Reside:   New Jersey

Diagnosed:   March 10, 2011

Information

*Neil was born two and a half months early with lung disease which required two months of c-pap. He stayed in the NICU for three and a half months. He developed feeding problems due to a very week suck and high palate. He also developed a severe twitch that contributed to his poor feeding and was treated with Phenobarbital. He stayed on that drug for about eight months which caused many negative side effects. Once off the Phenobarbital, Neil started to learn.

 

*Neil does not always want to be touched or held. Especially after he drinks a bottle he likes to be left alone in his bouncy seat, which is his favorite spot. He has a feeding tube which was placed in the NICU, but Neil has come a very long way and doesn't need to use it much anymore. He takes most of his bottles orally, unless too tired at night to finish we will use his pump. We plan on keeping his feeding tube in for future use and in case he needs it when sick.

 

*Neil loves water, but only if it is warm. He has started to splash in the bathtub. We are looking into a bathing chair for him because of his very low muscle tone.

 

*Neil cannot sit up by himself yet. He extends all the time and prefers to be on his back. He does not like to bare weight on his arms or legs, and fights his therapies. He receives OT twice a week, PT twice a week and feeding therapy three times a month. We would like to look into aquatic therapy soon.

*Neil is starting to eat more pureed food and has also tried some soft foods.He enjoys textures in his mouth and loves to chew on his p stick. He has two teeth on the bottom and we think his two top are coming in soon. His teeth are very tiny… and so are his cute feet!

 
*One of Neil's eyes turns out sometimes. The eye doctor is watching it.

 

*Neil hardly ever cries with tears, unless extremely upset from PT. He also has a soft cry.

 

*He has had two swallow studies done and although has shown penetration, does not aspirate. He has had three EEGs done and has shown no signs of seizures. I have noticed him staring off sometimes, though.

 

*His sleep study has shown central and obstructive apnea. His tonsils and adenoids are enlarged but his ENT doesn't want them removed as of now. Neil will be having tubes placed in his ears on October 18 due to fluid in both ears.

*Neil takes Miralax daily, which has really improved his constipation issues. He's had one ER visit due a bowl obstruction.

 

*He also takes Pepcid daily for reflux.

 

*Neil has been very lucky and has not had any infections or been sick. He still receives breast milk from Mom who is pumping.

 

*Neil is very lucky to have lots of family that lives nearby. He gets lots of visitors.

 

*He loves any kind of bouncing or swinging.

 

*He loves to be sung to and has started to be very vocal. He can babble Dada and we've heard him say Mama twice. He has always enjoyed cooing and started very young. He will also imitate your own noises sometimes.

 

*He smiles so much now, which is such a treat. He also loves to laugh and be tickled. He loves when you clap his hands for him, or help him rub his hair with his hands. He laughs very hard when you pat him on his chest. He loves to lay on his changing table and talk to you about his life!

 

*Neil has constant congestion. We use a bulb suction machine usually once a day. He has a problem where fluids are always going up his nose, so he struggles with milk adding to the congestion. Sometimes, if it is bad enough, he has trouble breathing. He has had a clogged tear duct which I was told could be a reoccurring thing. He has had several cases of ring worm.

 

*Neil is starting to watch his brother Luke crawl around and play, along with our dog Gizzy. Neil can turn from back to belly, with help, and can turn from belly to back on his own. He loves hanging out under his play mat and watching the lights shine and music play. He is starting to turn on his side and stay there for a bit, which is great. Anything that helps Neil get off the back of his head is good… it has become quite flat. He can now sit unassisted in his Bumbo seat, which is an awesome accomplishment. He likes to play with his toys on a tray when he sits there. His O-Ball is a favorite, his rainstick, anything that makes loud noises, although he still has a startle response. He loves his Elmo that talks to him and playing with balloons. He of course prefers toys that he can grab easily due to his lack of fine motor skills. He has started to show frustration when not able to grab something. He loves any toy that vibrates and loves the breeze from a fan!

 

*Neil has trouble falling asleep and needs deep patting on his back, the rocking chair and white noise. It has gotten a lot better, though. It used to take two hours to help Neil fall asleep!! He has started to use a pacifier more, which has helped, too. He sleeps with oxygen at night, which has helped him rest better and have more energy during the day.

 

*Neil gets VERY upset when he is too hot, and does not like the bright sun at all. He doesn't like heavy clothes and sweats very easily, but reads a low regular body temperature. He loves going on walks in the stroller when the temperature is just right!

*Neil has a very special relationship with his Daddy and loves hanging out with him in the evenings!

 

*Neil receives CPT two times a day five minutes each to help keep his lungs healthy.

 

*We have also just started brushing his hands and feet to help with his sensory issues. He has a bean bag chair that he really likes because it sucks him right in and puts lots of pressure on his body.

 

*Neil is very loved and has come so far from the days of the NICU. Seeing him smile and laugh is amazing and he melts our hearts. We have set a goal that hopefully in the future Neil will be able to sit by himself so that he can gain some independence and be able to look around him better… I believe he will do it when he is ready!

 


Child’s Name:  Nicholas Todd


Birth Date:   October 2, 2008


Parents:     Todd & Nikole


Siblings:   Courtney, Trent, Samantha


Other Affected Family Members:   Brother Trent is severely autistic.

 

Reside:   Nevada

 

Diagnosed:   July 2012


Milestones:

*Can stack blocks, climb the stairs and follows simple commands.

 


 

Child's Name:   Nicolas

Birth Date:  October 4, 2005

Parent's Name(s):  Natalie and Mateus

Reside:  Toronto, ON Canada

Date Diagnosed:  September 2007

Milestones: 

Sat Unsupported:  8 Months

Commando Crawl:  2 years

Sat-up from lying down:  2 years

Bum-shuffled:  3 years

Cruising:  3 years

Walking with support:  3 years

Other Information: 

Nicolas is a happy, easy-going bundle of energy. He is a huge eater and isn't picky. He loves to be swung or spun. He also enjoys music.

He currently attends Junior Kindergarten at a special needs only school, where he receives one-on-one support throughout the day. The progress he has made throughout the school year has been incredible!

He also attends a hippotherapy program (therapeutic horse riding), which has contributed to his success.

He loves to laugh and has great eye-contact. He babbles a lot and understands and uses somes signs.

When he gets excited he bounces and arm flaps. He grinds his teeth.

He still requires help with feeding but can self-feed finger foods (crackers, grapes).

 

January 2011 Update

Nicolas is walking independently!!!  He started doing so just after his 5th birthday.

 


Child's Name:

Noah

Birth Date:

August 4, 1996

Parent's Name:

Faith

Siblings Name:

Nikki

Other Affected Family Members:

None known

Reside:

Newton, NJ

Date Diagnosed:

2007

Milestones:

Walks, says some words, minimal sign language, eats and drinks


Child's Name:

Oliver Dooley

Birth Date:

October 31, 2012

Parent's Name(s):

Jenna and Matthew

Siblings Name(s):

None

Other Affected Family Members:

None, Oliver's duplication was completely spontaneous (de novo).

Reside:

Ohio, USA

Date Diagnosed:

December 19, 2013

Milestones:

Rolled over for the first time at four months.
Spoke his first word, dad, at four months.
Held and drank from his own sippy cup at ten months.
Currently feeds himself food in the form of bite sized pieces and uses a spoon when he feels like it. This only started a few months ago (approximately at the age of one year).

Other Information:

Oliver is a very mild-mannered, sweet fifteen month old boy. He loves to hang out with his dad, and play with his toys. Oliver's favorite toys light up, and make lots of noise. He is especially fond of taking baths, and sitting in his Bumbo.
Oliver currently is unable to sit unassisted, crawl, or walk. This is attributed to his low muscle tone. Currently, he attends physical therapy once a week to help build his muscle tone, and to work towards sitting up and crawling.
Oliver has a vocabulary made up of just a few words (dad, hey, hi, yeah, no).
He has a hard time chewing foods, so everything is still mostly pureed or broken into very small pieces. He was diagnosed with GERD early in his life, but it has since cleared up for the most part.
Oliver is very healthy, and has never been sick. His geneticist finds this to be very unusual, as most boys come down with illnesses more easily and more often than children without MECP2 Duplication Syndrome.


Child's Name:   Parker
Birth Date:   November 7, 2002
Parent's Name(s):   Derrill & Angele
Siblings Name(s):  Christopher, Conor
Other Affected Family Members:  None
Reside:  Katy, TX
Date Diagnosed:  November 2006
Milestones:  
Rolled over:   about 10 months of age
Crawled:   12 months
Walked Unassisted:   16 months
Began saying some words and began to sign some words with the help of ABAA:   17 months of age
Other Information:   
As a toddler, Parker played from toy to toy, kept his fingers in his mouth, loved playing and being around other children, playing in water, swimming, swinging and laughed plenty.
Now Parker is still a happy child. He has many expressions that show his emotions. He uses his "yes" and "no" hands by moving them for many activities and learning.
He loves books, music, and playing on the computer with his little brother Conor, learning new things and his cat, Kandi, who stays close to him.
Because of regression and increased seizure activity, Parker stop walking in 2006 and he lost all of his fine motor and gross motor skills. He has a g-tube, but eats a little by mouth, soft consistancy foods pudding, etc. 
Because of respiratory issues, he had surgery to have a lyringeal diversion performed. He doesn't have the respiratory issues as before and is doing very well.
His seizure activity has decreased but he will be having another surgery soon to have a vagal nerve stimulator placed in the hopes that this may decrease the few seizures he is still having.
Parker is in OT, PT and communication therapy privately and at school. He is slowly regaining some fine motor skills and getting stronger every day.


Child’s Name: Ramaj

Birth Date: January 26, 2010

Parent’s Name: Marqui

Siblings: Jakia and Tayanna

Other Affected Family Members: None. Mom is a carrier.

Reside: Washington, DC

Date Diagnosed: February 28, 2011

Other Information:

*Developmental delay, recurrent upper airway infections, hypotonia, spasticity, and severe reflux (GERD)

*After delivery, Ramaj had pneumonia and was hospitalized thereafter. He was unable to go home which resulted in him being in the hospital for a week. A couple of months following, his mom noticed him refluxing continually, sleeping through the night, and rarely wanting to eat. Despite the reports to the pediatrician, he decided that nothing was wrong and said that Ramaj would grow out of it. Ramaj was not doing things that he should have been doing in the infancy or toddler range. Eventually, his mom got fed up and switched pediatricians.

*A whole year after his birth, Ramaj was diagnosed with the condition MECP2. He is now being seen by many specialists including pulmonary, neurology, GI, and ENT. Ramaj continues to go through more than enough, but remains strong.

*In 2005, mom lost a son when he was just two. Although it has been five years, he still holds a place in her life. He was not diagnosed nor had he been evaluated properly. Since Ramaj was found to have this disease, mom has reason to believe that her deceased son had it too. Unfortunately, it is too late to determine.


Child's Name:   Rome
Birth Date:   September 28, 2004
Parent's Names:   Nicole Berthiaume Roach
Siblings Names:  Jordan Roach - age 10
Reside:   Abita, Louisiana
Date Diagnosed:  October 2009
Other Information:
Rome is a very happy guy!  He loves music and will laugh if someone cries.  Funny sense of humor.  He loves sweets and will do almost anything for food!

Child’s Name:  Rudolph John (III)

(Nickname: Trip)


Birth Date:   August 23, 2006


Parents:     Tiffany & Rudolph


Siblings:   Taitlyn


Other Affected Family Members:

*Mom is a carrier.

*Sister is a carrier.

*Aunt is a carrier.

*Grandma is a carrier, (deceased son).

*Great Grandma is a carrier, (deceased son).

 

Reside:   Tomball, Texas

 

Diagnosed:   February 5, 2007


Milestones:

Sit up- 1 year
Walk- alone: not yet, with gait trainer 4 years- 20 steps; 5 years- 40 steps; 6 years- 60 steps.
Eat- 5.5 months, mostly tube fed; tasting- 3 yrs; soft / pureed- 5 years; regular table food- 6 years
Talk- babbles few "words"- 2 years

Other Information:

Rolling with Rudy ~ Team Trip
All about me:
My name is Rudolph John Malbrough III, but everyone calls me "Trip." My birthday is August 23, 2006, one day after my mommies birthday. I have one sister, her name is Taitlyn; She is my BEST Friend. I have a HUGE family that loves me: My Mom and Dad, My Granny, My PawPaw Malbrough, Mamaw and PawPaw Ross, and ALL of my Aunts and Uncles, & My MANY, MANY, cousins. I also have Great therapists: Mrs. Nicole- Speech, Mrs. Wendy- PT, Mrs. Tina- OT. I have a wonderful medical team at the Chosen Clinic, My PCP is Dr. Liaw. I am in first grade Developmental Program at Schultz Elementary. My Teacher's are Mrs. Ripley, Mrs. Tanna, and Mrs. Nighat. I have a cool wheelchair that is lime green. My backpack, is sports themed & says "Rudy is a Trip!" I love music- listening to it and playing it. My favorite toys are my musical instruments: my drums and my xylophone (Or Whatever I can bang on). I love looking at myself in everything: mirrors and anything reflective (like the oven door). I also LOVE the water: baths, showers, and especially swimming. BUT my most favorite things are hats! I love any kind of hat: baseball caps, cowboy hats, beanies, etc... If I see a hat, I think it belongs to me. So many people that know me have given me a hat, either theirs or bought one thinking of me.
~Trip

My name is Tiffany. I am the mother of my MECP2 Miracle, Trip. From the first day Trip was born, I knew something was wrong. He spit up A LOT. I had NICU Nurses tell me that it was normal and not to worry. 6 days after he was born, I took him into the doctor's office, crying (me). Again, I was told the spit up was normal. Every check-up after that I would mention the spitting up, and was still told everything is normal. Finally, at his 4 month check-up, I strongly suggested, we look into the spitting up as "not being normal." I went into the doctor’s office once a week, for 5 weeks, trying a different formula each week, to no avail. Frustrated with nothing working, I demanded we try something new to help my son. We were sent to Memorial Hermann Hospital for an ultrasound of his intestines, to see if they were twisted. Upon arrival, we were admitted for reflux, dehydration, and failure to thrive. At 5 1/2 months old Trip only weighed 10 pounds. After 2 weeks in the hospital, a "fish" test came back with a mutation (duplication) of the MECP-2 gene, {among others}. After a week of thickening formula for feeds, the doctors recommended placing a G-tube, and performing a Fundoplication surgery. February 5, 2007, was the day of his surgery. In March 2007, Trip caught the Flu. He was rushed by an ambulance to hospital with an I.V. placed directly in his leg bone. Trip was admitted to the pediatric ICU. He needed a blood transfusion, was in renal failure, and had congestive heart failure. He lost the 3 pounds that he gained from the G-tube placement, and was back down to 10 pounds. That was a very hard time, because we almost lost him. Since then he has had his tonsils and adenoids removed, a testicle dropped, and a hernia repaired. He was diagnosed with sleep apnea, and placed on oxygen, then on a C-Pap machine. He also has a delay in the signals from his brain to his eyes and ears and vice versa. Trip does not walk or stand, and cannot talk. He was diagnosed as a silent aspirator. Trip was taking a minimum of 4 medications per day. But enough bad news, and on to the good news. Trip has been taken off ALL medications. He does not need the oxygen or C-Pap machine, and no longer aspirates. He is doing well in therapy. He is walking in his gait trainer. He is starting to eat soft foods. He also LOVES to drink (doesn't quite have the hang of it yet). Trip babbles mama, dada, and a few other "words." Trip has been through SO much in his short life, but he is always very happy. He only gets fussy when he is tired. He will melt your heart from the moment you meet him. I have always called him "my special boy," even before we confirmed he was "sick." After finding out he was "sick," I would say that he just gets to be my baby for even longer. He is an EXTREMELY LOVED child, by friends, family, and Especially ME!
~Mom & Dad


Siblings:
I am Taitlyn. I am Trip's sister. I am 13 years old. I love my bubba very much. I play with him everyday. I mostly play with him with his stuff, but sometimes we play what I want. I like to play beauty shop with him, so I can style his hair. I like to give him a mohawk, and spikes. Not everyone has a person with special needs in their family, but I do. I know it is hard sometimes. I have to help my mom with my brother. I get diapers, wipes and formula for her. I also know how to hook him up to his feeding machine. I know my brother is not like everyone else, but that’s what makes him special.
~Taitlyn

 


Name: Samson Bellew

Birth Date: March 21, 1997

Parents: Eunice Bellew

Siblings: Tabitha Bellew

Reside: Ohio

Date Diagnosed: January 20, 2009

Milestones:

* Sam wasn't trying to sit up or crawl when he was about 1.

* We went through early intervention services, and he was walking and sitting up by age 2.

* Has had bouts with pneumonia when he was younger, but he received a vaccine and was pneumonia free until he was 14.  At 14, he got pneumonia with plueral effusion and Empyema.  He has since not been able to walk because of mild contracture in his legs, but physical therapy is working those out.  He has since had an NG tube in as a precaution for aspiration.  Video swallow has study has since revealed he isn't aspirating, but oral therapy is recommended to strengthen his swallow reflex.

Other Information:

* He is a happy 111 pound, 6 foot tall 14 year old.

* He will walk again and eat by mouth again because he is so strong willed and can't be kept down.  He continues to prove all the therapists, teachers and doctors wrong.  Way to go Sammy Jo!


Child's Name:

Solomon                                                                                  

Birth Date:

December 2005

Parent's Name(s):

Paul and Ardena

Other Affected Family Members:

Younger brother Matthew and mom's cousin have it. Mom, Grandma, one Aunt, and Great Grandma are all carriers. Great-grandma had 5 boys that are suspected to have the syndrome as well.

Reside:

California

Date Diagnosed:

June 2011

Milestones:

Solomon started walking at 5 years old. He can use a spoon and fork with messes, put on his own shirt, climb upstairs with little help, and uses 2 to 4 word sentences.

 


Child's Name:   Spencer
Birth Date:    May 10, 2008
Parent's Names:    Nhan and Jupiter
Siblings Name:   Hunter
Other Affected Family Members:   baby brother Hunter and mother Nhan is a carrier
Reside:   Ottawa, ON, Canada
Date Diagnosed:    December 2009
Milestones:
Sat up unassisted -  a year and a half
Able to self feed using bottle and hands for food - presently
Periodically says words but forgets them - started at about a year and a half
Other Information:   
Spencer is a loving, easy going child who never really complains.  He enjoys swimming, eating, music, swings and rides on the helicopter at the mall where you insert money.
He was born premature at 33 weeks and weighed 4 lbs 11 oz.  He stayed in the ICU for a month until he was able to gain weight and no longer needed any tubes to help him feed or breath. 

He just celebrated his second birthday and couldn't be happier.  Although he cannot crawl or walk, he is able to sit up for a long time without complaining or falling over. 

Spencer was hospitalized twice and has had countless trips to CHEO.  One time, Spencer was sick with a cold and somehow stopped breathing so we called an ambulance and they rushed him to CHEO and he had to be resusitated.  This was so scary!

We recently found out (April 2010) that Spencer's younger brother, Hunter, who is 8 1/2 months old also has the diagnosis of MECP2 Duplication Syndrome. This news was like a ton of bricks had fallen on me.  We knew to hope for the best and expect the worst!

I am now a single mother of two young boys who have such a severe diagnosis but I take it one day at a time!

Name:  Stephen

Birth Date:  December 31, 1999

Parents: Thomas and Emily

Siblings:  Madison, Alexa, and Thomas Joshua (T.J.)

Other affected family members: T.J., Uncle, Grandma, Aunt, and cousin

Reside: Washington, U.S.A.

Milestones:

Rolled over at 3 months

Pulled himself up at about 11 months

Walked at about 22 months

Walking up and down the stairs about 3 years

Still working on using a fork and spoon. Stephen tends to stuff food into his mouth and he has choked a number of times.

Information:

Stephen doesn’t talk but does sign for “more” and “all done”

Uses PECS to communicate

Stephen was in and out of the hospital his first 2 years of life with pneumonia

Stephen had tubes put in as well as his adenoids and tonsils taken out (that helped with the ear infections!)

Stephen has absence seizures and is on Lamitcal

Stephen loves to jump on his knees, that is how he started to get around at about 18 months, I don’t really remember him crawling.

He has lots of the same characteristics of Autism, the hand flapping, stemming, and obsessions with certain items. For the longest time it was plastic keys.

Stephen has a very wide gate, and when not paying attention tends to trip.

His fine motor skills are not very good.

His focus is very short, I think we will be working on that for the rest of his life!


Child's Name:    Symija

Birth Date:    August 16, 2010

Parent's Name:    Perianisha & Marcus

Siblings:    Charlesse & Marcus, Jr.

Other Affected Family Members:    His Uncle Larry and Uncle Ernest

Reside:    Mississippi

Date Diagnosed:   August 13, 2011

Milestones:   

*He hasn't sat up yet but his parents are pushing for that.

*He's not able to eat table food or talk.  He is still on a bottle.

Other Information:

*Symija is a loving and happy child.  He has an older sister and brother who love him very much.  He loves for them to be in his face playing with him.

*He was born on time at 40 weeks at which time his parents didn't see nothing wrong with him.  They knew something was wrong a year later when he wasn't acting like the other kids in his class.

*Symija's parents are hoping for the best for him.  He brings much joy to their whole family.

 


Child’s Name: Taylor McKee


Birth Date:   June 5, 1997


Parent:   Shelley


Siblings:   Brandon


Other Affected Family Members:   None


Reside:   Muncy, Pennsylvania


Diagnosed:   October 2, 2012


Milestones:

*Walked – 17 months

*Talked – 3 years


Other Information:

*Taylor has mild mental retardation and expressive-receptive language disorder.

*She was also diagnosed with sterotypies which is a movement disorder.

*She is in a life skills classroom at school.

*She loves music and swimming.

 

 


Name: Tayton

Birth Date: May 24, 2005

Parent's Name(s): Hollie and Sam (step dad)

Sibling's Name(s): Landon, born June 21, 2009

Other affected family members: Mom's results were negative.  Biological father not tested.

Reside: Hampton Roads, Virginia

Diagnosed: Summer 2008

Milestones:

First smile - 3 months

Laughed out loud - 5 months

Rolled over - 4 months

Sat up unassisted - 10 months

Crawled with hands and knees - 11 months

Started walking - 27 months, but regressed due to multiple hospitalizations

Other Information:

Tate is known for his contagious smile and is very outgoing!

He absolutely loves people and tells everyone "hi."

Loves books, music, dancing and balls.

Can't get enough food; will stuff his mouth.

Loves getting up every morning to get to the bus and go to school.

Always tries horseplay with daddy and loves being tickled to get a good laugh.

Flaps arms when excited; also can tense up muscles.

Hates loud noises and hearing babies cry.  He gets extremely uncomfortable and over stimulated in large crowds.

Used to grind his teeth, but haven't noticed it lately.

Puts everything in his mouth.  At one time, he never took his fingers out of his mouth.

Has no problems with vision or hearing loss so far.  No sign of seizures, however he does have moments where he will stare into space for a few minutes.

Still wears diapers all the time.

Has problems with his equilibrium and falls excessively.

Keeps mouth open all the time and drools frequently.

Has also been diagnosed with severe anemia and hypothyroidism.  He takes an iron supplement and synthroid daily.

Tate was born in southern Mississippi.  His first feeding made it obvious that something was different about him.  He would eat, get very fussy and throw up the entire bottle.  The only answer I received was to change his formula, which was done several times, and to put him on Zantac, later changed to Previcid.

He was in and out of the doctor's office and hospital.  He always had pneumonia, RSV, or a sinus infection.  In August 2005, we could not get a diagnosis because of Hurricane Katrina.  Months passed, and he was only getting worse.  He seemed to eat all the time and was still throwing up most of it.  His growth was extremely slow.  His doctor thought he had Celiac's Disease, which required a "gluten free" diet.  He lost so much weight and was losing his quality of life very quickly.

We went to Alabama to get a second opinion.  It was confirmed he didn't have Celiac's, and we were referred to an ENT in Jackson, Mississippi.  The ENT recommended surgery to explore his throat; they found a laryngyl fistula, which was causing him to aspirate.  We thought this would ultimately cure him, but the doctors in Mississippi finally admitted they couldn't help him, and there were no specialists in the area.  We moved to Virginia, and we immediately found a pediatrician who changed our lives.

When I started nursing school and Tate went to daycare, he was getting sick every other week with extremely high fevers that would subside by the time we made it to the ER.  We went back to the pediatrician, who suggested a chest x-ray, which showed a large abcess on his lung that was infected with the staph infection MRSA.  He was rushed to the ICU of the Children's Hospital and remained there for 3 months, during which time he regressed rapidly.

In 2008, we finally got the referral to see one of the best developmental doctors in the country.  He ran extensive genetic tests, and the results were heart wrenching.  After 20 plus hospitalizations in the first four years of my son's life, Tate has been doing extremely well and has been hospital free since January 2009.  The doctors found that the powdered thickener was still causing aspiration, so an easy switch to the gel made a dramatic difference.  Along with his adnoid extraction, this has kept Tate the healthiest he has ever been.

The day we found this site and read all of the stories changed our life!  I laughed and cried, knowing everything would be okay.  I look forward to working with you all and to fight for answers for our little angels.  Tate has given me inspiration and a different outlook on life.  I hope and pray that one day I will hear the words, "Mommy, I love you."

Tate now shares the house with his little brother Landon, who is completely healthy.  We can really see a difference in Tate's development, and we hope to watch them grow together for years to come.

I am so glad to be part of this group, and I wish the best for every family dealing with this.  I would love to meet some of you to share stories and meet your little angel.  I know Tate would like to meet someone like him.

 

 


Name:  Thomas (T.J.)

Birth Date:  April 11, 2007

Parents: Thomas and Emily

Siblings:  Madison, Alexa, and Stephen

Other affected family members:  Stephen, Uncle, Grandma, Aunt, and cousin

Reside: Washington, U.S.A.

Milestones:

Sitting at 12 months

Crawling at 14 months

Pulling to stand 16 months

Walking along furniture 18 months

Crawling up stairs at 18 months

Switched over to a sippy cup at 18 months

Information:

T.J. has had his fair share of infections including ear and sinus infections. He also has had pneumonia. He had tubes put in and his adenoids taken out in March 2008. In May and July he went into the hospital because his heart was racing. There he was diagnosed with SVT and WPW. He is now on 2 different medications because of it.

T.J. does not let his mommy go too far out of his site.

He goes to school 1 day a week and gets OT and Speech once a week, and every other week that is done in the pool.

T.J. loves his sisters and brother, he loves when the girls spin in circles for him, he loves anything that spins.

T.J. also hops on his knees, but he gets around by crawling, he used to like his walker.

He loves to eat as well, and he is finally only on table food, his favorite is cheeseburgers.

His fine motor skills are better than his brothers, but I have notice that he is starting to shove food into his mouth as well. It is a sensory thing for them.

T.J. loves to pull hair, the harder he pulls the happier he is.

T.J. is a great sleeper and he loves to play in his crib, in fact when he is crying and I put him into his crib he smiles at me.

T.J. is just a sweet little boy and he loves his family as well as his stuffed dog. When he smiles his whole face lights up. We have been working with T.J. ever since he was 3 months old, so the good thing is that he has an earlier start then Stephen did.


Name:    Tyler

Birth Date:    July 19, 2007

Parent's Names:   Tom and Amy

Siblings:    PJ, Harold, Ashley, Christine

Other Affected Family Members:   None

Reside:   California

Date Diagnosed:    May 2009

Milestones:

*Tummy roll - April 2008 at 10 months

*Eats crackers and holds a sippy cup - October 2008

*Crawls  and a week later "knee walks" - May 2009

*Said "Mama & Dada (but doesn't articulate the sounds consistently) - July 2009

*Walks - August 2010

Other Information:

*Tyler initially appeared to be an extremely placid baby, content to sit in his infant seat and let the world go about its daily routines.  He would eat normally for an infant and his growth rate was among the top 5%.  He'd contentedly lie on his back, but made little effort to engage socially or physically.  He hated being on his stomach, couldn't turn himself over, and cried if left there more than a couple of minutes.

*His pediatrician referred Tyler for testing, which confirmed Tyler as having the MECP2 Xq28 duplication chromosome.  Further testing showed a normal EEG so his parents still have no idea how pervasive his condition is.

*Tyler received Early Start therapy for cognitive and motor skills, which helped enormously, and with steady work, Tyler learned to "knee walk."  He didn't spend much time crawling, and he needed AFOs (Ankle Foot Orthotics) to help him walk, which he finally did at 38 months of age.

*He has the classic hand/leg flapping movements and the defensive mechanism of hand guarding his face and mouth if you're trying to get him to eat and he's full or bored with it.  He will hand feed himself, but takes a long time to do it.  He prefers tasty adult foods to the blander foods of young children, but his parents need to take care that he can chew meats easily.

*Tyler is a delightful child, always in a good mood and charming to everyone.  He smiles so easily, loves to cuddle but doesn't like being confined.  He especially loves his grandpa, with whom he has bonded tightly.  They laugh and play, and Tyler loves to fall asleep on top of grandpa (when he can be persuaded to take a nap).  He's responsive to music, and moves in time to the beat, often "conducting" as he sways in time, even becoming upset when he hears sad or "ominous" songs.

*Tyler was hospitalized once for asthma that turned into pneumonia when he was about two and a half, but has remained free of breathing problems since.  He has had several sinus infections that have been controlled with antibiotics, but has managed to avoid any problems this year.

*Tyler has an orthopedic appointment soon to see if anything can be done to help him walk upright rather than the bent-knee and almost on-the-ankle gait he uses when not wearing his AFOs.  He is tentative with his balance, must have some sort of anchor when going over uneven or a rise in a doorway, for instance.

Update: June 2012

Tyler turned five this month, he left the Early Start program and enrolled in kindergarten. His hypotonia is still a concern, his AFOs (similar to the type the kids use for soccer) prevent him walking in a “slumpy” position, and keep his ankles straight.  His eyes got so big when he put his first pair of glasses on, we could tell he was seeing the world crisply for the first time.  He didn’t even try to take them off.  He  seems to have little or no depth perception, because he still very tentatively feels for the edge of the  stairs with his foot as we help him up or down and prefers to avoid uneven ground whenever possible.

Tyler is a big boy, he’s 47” tall and weighs 65 lbs. He also requires constant supervision because he has begun to explore his world and anything he can touch.  He’s especially enamored with the cause and effect of pushing buttons on the remote, the stereo, the tv and his grandpa’s karaoke equipment.  He insists on turning on and off any light switches in his vicinity, but will leave them alone if the lights are left on.

He’s begun to babble, but still doesn’t form recognizable words, his minor motor skills are improving and he's learned to feed himself  (sloppily) and wash his hands, but still has no concept of the desirability of toilet training.  Tyler is still always happy, unless he’s not feeling well or you wake him up too soon.  He’s still prone to upper respiratory infection, but has had only the one asthma/pneumonia episode when he was 2 1/2.  He's dependent on Miralax for digestive health, and he eats just about anything except melon.

He's also developed a mischievous side, and gives a smirky smile when he’s teasing or when he knows you’re exasperated (and he doesn’t care).  Tyler does exhibit many autistic mannerisms, flapping/jerky movements, sometimes not looking directly at an object/person while engaged with it; and still naps with grandpa when he's cuddled.   We’re hopeful Tyler continues to develop and are so grateful to have this wonderful, loving and pure of spirit human being in our lives.


Name:  Wyatt

Birth Date:  August 12, 2006

Parents: Gene and Tammy

Siblings:  Big Sister Lauren (10)

Other affected family members:  None, Mom and Dad were tested and neither are carriers.

Reside:  North Carolina, USA

Diagnosed: June 2008 while hospitalized for breathing and swallowing difficulty. MeCP2 Duplication Inserted into Chromosome 21. The Geneticists (we've met 4 now) have indicated that Wyatt is the only one with the duplication insterted into #21 (21st chromosome). 

Information:

A very loving child with sweet disposition and infectious smile.

Likes to be read to, music, and Baby Einstein movies.

Really enjoys being tickled.

Thinks his big sister rules the universe.

Loves the water...bathtub and swimming pool.

Sensory stimulated, especially with texture.

Sometimes very vocal, but it comes and goes. May go for extended periods without uttering much at all then it comes back. Doesn't say any real words, but does mutter the Da Da, Da Da sound and does say "ey" for Hey.

Will eat just about anything with a great appetite, but we have to be careful to not let him overstuff his mouth. Can feed himself with his hands. We're working on the fork and spoon now. He does okay with the fork, but no luck at all with the spoon. Controls his own sippy cup for drinking.

He does choke somewhat easily on occasion.

Has had two bouts with pneumonia...the last one about a year ago.

Was hospitalized once with a "mystery" illness. One test came back positive for Mono, but another was inconclusive.

He did grind his teeth for about a month recently, but that has now stopped.

Suffers from chronic constipation. Takes Miralax on a daily basis.

Has esophageal reflux. Takes Axid on a daily basis. Still tends to spit up, but has gotten better with age.

When on his back, flaps his arms and legs vigorously and repetitively.

Tends to have a relatively high threshold for pain.

Severe obstructive sleep apnea until we had Tonsils and Adenoids removed. He's been a different child since then. Much more energy.

Generally sleeps well at night and takes a 3-4 hour nap most afternoons.

Orally stimulated. Everything goes in his mouth and tends to chews on this blanket when tired.

Developmentally delayed...at least 12 months behind others his age.

Excessive Drooling.

Tends to have sinus congestion, but the infections have decreased since the tonsilectomy.

He is in a "normal" preschool 2 days per week for 3 hours.

Currently in 8 therapies per week (2 each of PT, OT, Speech, and Developmental Play).

Has AFOs (Ankle Foot Orthotics) to help stretch his hamstrings and achilles tendons. He doesn't tolerate them well.

Crawls all over the place and is now pulling up on the sofa, tables and chairs. Tends to stand on his tip toes, probably because of the tightness in his legs. We hold great hope that he will walk.


Child's Name:    Wyatt

Birth Date:    August 12, 2006

Parents:    Gene & Tammy

Sibling's Name:    Lauren

Other Affected Family Members:    None

Reside:     North Carolina

Diagnosed:     2007

Milestones:

*Started walking at the age of 4.

*Uses sign language, augmentative communication, and just recently started to repeat sounds and words.  He says:  go, cookie, hi, bye, okay, good, and happy.  Started to say "momma" when he turned 4.

 


Name:  Wyatt Drake

Birth Date:  July 24, 2007

Parents:  Jason and Amy

Siblings:  Max -typical-(dob 1/6/05) and paternal half sister Jude (dob 6/20/92)

Other affected family members:  Amy is a carrier.  Amy's sister is a carrier (no children yet), her cousin, Kari Alley, is a carrier and her oldest son, Cale, passed in June 2007 at 13 1/2 years old from complications of aspiration pneumonia due to MECP2 Duplication.

Reside:  Dallas, Texas, U.S.A

Diagnosed:  January 2009 with 346kb duplication

Milestones:

May 2009 - 22 months old, pulling to standing from sitting position

Nov. 2008 - 17months old, signing "milk"

Sept. 2008 - 15 month old, commando crawling

Fall 2008 - 15 or 16 months old, can hold a sit if put into sitting

Information:

Wyatt is a very happy, beautiful boy with the biggest blue eyes that you can't help but fall in love with.  He loves to be tickled, swing, be outside, play in the water, make giant messes in the blink of an eye, play keyboard and listen to music, and most of all -- EAT!!

GI:   Wyatt has severe constipation, usually controlled with Miralax. Occasional use of enemas, but GI doctor wants us to start using Senna instead of enemas for "clean-outs" for those times his belly seems unusually distended and he hasn't had a bowel movement in 3 days or so.  Wyatt also suffers from severe reflux.  He takes Prevacid once daily, Bethanechol and E.E.S.(erythromycin) 30 minutes before meals to help with motility.  I can't really find any rhyme or reason to his spit up.  Some days there is very little and some days he is a volcano. ???  The meds. help a little, I guess.  We have tried a dairy free trial with no change.

Cardio/Pulmonary/Neuro:  Medium sized Atrial Septal Defect and Bronchial and Trachea malacia to be followed yearly.  Original MRI normal and recent EEG normal.

ENT:  Tubes put in ears May 2008 (11mth old) due to large amounts of fluid.  Has had 2 ear infections since.  Lots of stuffy nose breathing.  Have not had adenoids checked.

Communication:  Wyatt went through three different 1 to 2 week phases of saying "da-da."  He doesn't say any words now, but does vocalize sounds. He can sign milk, more, and eat.  We are also at the beginning stages of PECs.

Oral Motor:  Since birth, Wy's eye teared every time he nursed.  We found out at 9 months old that this is a sign of aspiration or penetration.  After swallow studies and 2 trials of vital stim (which I'm not sure made any difference except to make him mad during treatment) we are now still thickening all liquids to Nectar with Simply Thick.  He has some high and low tone facial areas.  We do Beckman oral stretches which has made a dramatic difference in his ability to eat solids.  He is able to eat soft solids and and thin hard solids.  We are on the waitlist for speech therapy. (I am so sick of wait lists for the good therapists!)  Wy is always chewing on something...loves his first 2 fingers on the right hand.  Loves to bang toys into his top teeth.

Motor Skills:  Wy does PT twice weekly, OT twice weekly, water therapy once weekly and is on the wait list for hippotherapy.  We will be receiving his gait trainer and wheelchair later this month.  His therapists at Baylor Dallas are wonderful!  He is also being presented with an Ambucs Amtryke this month. (Contact your local Ambucs chapter to see about getting this free tricycle for your sweet one!).  When we started therapy in May 2008, Wyatt couldn't sit, roll, etc.  Now he commando crawls ALL OVER the house getting into EVERYTHING.  He is so curious and motivated.  He stands with minimal hip support and is beginning to take baby steps with support.  He still cannot get into sitting by himself, but is gaining on this skill.  Like other boys, Wy does a lot of arm flapping, hand movements, and bouncing, especially when excited.  He can self feed fairly well, however his fine motor skills are not as advanced as his gross motor skills.


Name:    Xander Wayne

Birth Date:    June 2, 2010

Parents:    Gary and Tory

Siblings:   None

Other Affected Family Members:   None

Reside:    Kansas

Date Diagnosed:    February 15, 2012

Milestones:    Xander is now able to sit up on his own and army crawl as well as rolling around.  He can feed himself with his hands and drink from his tippy on his own.  He can walk with help and stand against furniture.  He is starting to be able to pull himself up as well.

Other Information:   Xander is a very happy lil guy and shows love to everyone.


Name:    Zachary

Birth Date:    March 12, 1976

Parent's Name:   Ginny

Sibling's Name:   Laura

Other Affected Family Members:   None

Reside:   Vermont

Date Diagnosed:    October 15, 2010

Other Information:

*Was first diagnosed with oral/motor apraxia and then in 1997 was diagnosed with possible Mitochondrial Complex 3 Deficiency.  Finally, genetic testing in 2010 proved MECP2 Duplication Syndrome.


Child's Name: Zayne Birth Date: July 4, 2007 Parent's Name(s): Toby & Stephanie Siblings Name(s): Zachary Other Affected Family Members: None Reside: Texas Date Diagnosed: February 2010 Milestones: At 20 months he started Crawling on all 4's.

At 2 1/2 yrs. old he started Cruising along furniture and walls. Other Information:

At 10 months we started getting concerned that he was not developing like he should. His doctor referred us to Growth & Developmental Specialist & E.C.I.

January 2010 we were referred to a Neurologist - she did blood work, that was determined he had MECP2.

April 2010 - Zayne was seen by G.I. Dr. and Dr. Ramocki.

July 2010 - Received walker.

August 2010 - Started school in PPCD program. Also, received his wheelchair/stroller.