In Memory Of
Has your child been diagnosed with MECP2? Submit your child's profile to the website here!
Child's Name: Cale
Birth Date: November, 2, 1993
Parent's Name(s): Kari and Eric
Siblings Name(s): Jarrett, Kinsley and Lauren
Other Affected Family Memebers: Cousins Amy and Staci are carriers. Cousin Wyatt has MECP2 Duplication.
Reside: Overland Park, KS
Date Diagnosed: After passing away and finding Wyatt to be a carrier, Kari tested positive.
Sat up - 8 months
Crawled - 2 years
Walked - 4 years
Cale said many "Cale" words and even could string 2-3 words together. He used various augmentative communication devices but he loved to tear things apart and if left alone with the device he would tear it apart. He definitely had a keen sense of cause - effect relationships. For example, he knew which buttons made the DVD player play and how to start a tape in the VCR player. He especially loved Barney and Blues Clues. However, he had no real fears. He would get into EVERYTHING! He also knew that he wasn't supposed to get into certain things and would giggle his funny belly laugh as he walked away. For example, he loved to get into lotion bottles and eat the lotion! He was diapered and required Miralax to have regular bowel movements. He eventually had an "ACE" procedure which enabled us to fill the bowel with saline solution through a catheter which inserted into a permanent "hole" in his abdomen. The pressure would cause him to empty his bowel while sitting on the toilet. Then, we never had accidents in the diaper.
Other Information: Our beloved son, Cale, passed away June 7, 2007. As Cale was going through puberty, he began having uncontrollable seizures. A combination of medication and even the implantation of VNS didn't stop the deluge of seizures. Finally, he had one last seizure, aspirated and died about one week later from pneumonia.
Cale had a beautiful, loving and happy spirit. He lived life with exuberance for the simple things. He loved music, buttons, doors, and light switches. He liked his swing in the backyard as well. He could even use a touchscreen computer . He loved his mom and dad and he had a special affection for his Grandpa Wayne. He gave kisses and hugs to us all the time.
We miss him greatly and we grieve each day that our lives are missing his presence. Heaven must be a brighter place because of Cale and the other boys like Cale.
Birth date: February 25, 1985
Angel date: May 7, 2007
Dustin loved the Muppets, Barney the Dinosaur and Sesame Street. He also was always happy and smiling. He got excited easily. You always knew when he was happy and excited because his little body would vibrate, he would do a little dance and flap his arms. He also was a heart melter.
In Memory of Elijah- Fearfully and Wonderfully Made
When everything hurts,
My heart and my mind.
When I remember you,
But cannot find.........
When It hurts so much,
I want to escape.
To run in and sit,
where it's quiet by the lake.
When your clothes lay all folded,
so neat in your drawer.
When your room smells like you,
But you are here no more.....
When your backpack lays flat ,
So neat in it's place.
When I need comfort,
But at the same time some space.
When I have no answers,
No question mark will do.
When the floor crumbles beneath me,
When all I want is you.......
It's then that I sit,
I can stand no more.
On the mat in your room,
huddled crying on the floor.
It's then I find peace,
In this jumbled up place.
I can climb on God's lap,
And experience his grace.
He knows my anger,
my hurts and my fears.
That my heart is not beating,
He has counted my tears.......
The one's that have fallen,
And the ones that will come,
Because He knows me and He MADE my son.
Birth date: November 21, 1983
Angel date: October 10, 2008
Evan loved sports and fast action. He was always happy and smiled when he saw the people he knew and loved. He was very much loved by everyone who knew him. He was also stubborn. He had few words but he would definitely let you know if he did not want to do something. He always could melt anyone’s heart.
Birth Date: November 8, 2011
Angel Date: February 9, 2012
Parents: Dave and Jen
Siblings: Sierra, Sadie, Maisie
Other Affected Family Members: None
Diagnosed: January 12, 2012
*Jace was a very sweet baby with a great disposition. Unfortunately, he did not live long enough to reach many milestones. He passed away on February 9, 2012 due to severe feeding intolerance.
*He would track toys moved in front of him but never changed his expression when looking at people.
*He would hold toys placed in his hand.
*He could lift his head but still required support.
*Never smiled in response to interactions.
*Never cooed or made baby noises.
*He had reflux that began very mild and by 2 1/2 months was projectile vomiting with feeds.
*Was fed with a nasogastic tube and feeding pump.
*Did not act hungry and would cry through feeds.
*Severe constipation, even with daily milk of magnesia.
*Slept A LOT....through the night and then many hours during the day.
*Frequently did not want to be held.
*Loved the bath!
*The sound of running water was smoothing to him.
*Never sucked. He would bite down very hard on objects put in his mouth....sometimes with a chewing motion.
*Frequently held his lips in a pursed position.
*He had poor perfussion and was often mottled and/or pale.
*Pregnancy was uncomplicated.
*At the 20 week ultrasound, Jace was determined to be small for gestational age. He had frequent follow-up ultrasounds to track his growth. He was less than 5th percentile for growth. All anatomy appeared normal on ultrasound.
*At 36 weeks, mom was induced for poor fetal growth. He weighed 3 lbs. 13 oz. Delivery was uncomplicated despite two true double knots in the cord. Jace never required any respiratory support.
*At birth, they discovered that his umbilicus was abnormally low -- approximately 1 cm above his penis. He also had a hypoplastic scrotum. Otherwise, he acted and moved appropriately for his age and size.
*Jace did have feeding difficulties from birth. He was fed by nasogastric tube after he attempted breast/bottle feeding. He had a very poor, uncordinated suck.
*Genetic testing was done due to low umblicus. The initial karyotype revealed additional chromosomal material on the 10th chromosome. A microarray was sent and determined that Jace's extra material was duplicated from the X chromosome. His duplication was fairly large and visible on the initial karyotype. His duplication was 15.5 MB and considered de novo.
*At 2 weeks of age, it was discovered that Jace had a cardiac defect. He had a corarction of the aorta. Initially, he was asymptomatic but by three weeks of age, he was life flighted to Lucille Packard Children's Hospital at Stanford for surgery. They discovered that he also had an abberant right subclavian. Surgery was performed without complications.
*Jace was unable to orally feed and was found to be microaspirating. After the microaspiration resolved, he was still unable to coordinate a suck. OT felt that he had poor midline tone which was affecting his suck, reflux, and severe constipation.
*Jace was home for almost 2 months when he passed away from severe feeding intolerance.
Child's Name: Jack
Birth Date: January 8, 2010
Parent's Name(s): Lynn and Mike
Siblings Name(s): None
Other Affected Family Members: None. Dad tested as the triplication was on the Y Chromosome. Dad not a carrier.
Reside: New Hampshire
Date Diagnosed: Diagnosed with Triplication on January 21, 2010
Other Information: We had a normal pregnancy up until 20 weeks when an ultrasound showed some abnormal markers. Jack was born 10 weeks early via C-section after my water broke. Three weeks after his birth we were informed he had MECP2 Triplication Syndrome, a more severe form of the syndrome. Jack was already displaying some signs of the syndrome. He did not have a bowel movement for 14 days after birth, spit up often and had low muscle tone.
Jack passed away on February 4, 2010. He was a very sweet little boy, and we were blessed to have had him in our lives even for a short time.
Birth Date:August 2005
Parents:Axel and Eva
Other Affected Family Members:Benedikt
Reside:southern part of Germany
Date Diagnosed:August 2010
Milestones:first smile - ten weeks
first time sitting alone - thirteen months
first crawling - two years
first time driving alone in his wheelchair - four years
Jonathan is hypotonic and had severe reflux during his first three years.
He easliy catches colds (but is less prone to them compared to his brother Benedikt). Using an inhaler helps to deal with his respiratory infects.
He has a bad constipation (for which he is given Movicol Junior).
Occasionally, he grinds his teeth.
Jonathan can sit safely but prefers to lie on his back while playing. Also, he likes to rotate when being on his back - playing compass needle!
He is alway busy playing with his tongue. Apart from that, he is a curious little guy, especially he is interested in things he shall not have (remote control, hi-fi system and soudspeakers,...). When he gets something in his hands, he turns it like a little racoon and it finally ends up in his mouth.
In quite a few things, he has further developped than his brother.
When he gets excited, he flaps his arms and legs.
Jonathan likes to "read" books and newspapers, i.e. he looks at them intensively and turns them the right way if upside-down.
Watching TV is also one favorite occupation.
He is crawling using the "bunny hop"-method. For normal transportation, he has a wheelchair which he can operate by himself (only there seems to be no reverse gear and no brakes).
In the kindergarden, he has a special device to practice standing. He can carry his weight on his feet for a short time but until now didn't grasp the concept how to move his feet in order to walk a few steps.
He doesn't use and understand language but he "talks" manifold. Experimenting with his face in order to produce as many different noises/words and faces is also a preferred activity. He knows how to whistle and how to click his tongue.
Jonathan decides very fast who he does like and who not and can show this clearly. With other children, he is guarded and often prefers to be for himself.
Favorite occupations are also swimming and bathing. Additionally, he likes going on the swings and on the trampoline. He is very ticklish and likes wild games with his dad.
Jonathan will start school in September 2011.
He loves eating and can fingerfeed himself. Currently, he learns to use the fork. He drinks alone from his special cup.
April 13, 2011
Jonathan passed away absolutely unexpected.
February 16, 1979
Other Affected Family Members:
Josh took his first steps at 22 months.
Diagnosed at age two with mental retardation and developmental delay.
Began saying words around two and could say about 60 words for most of his life.
Josh had many respiratory issues as a young child. He experienced bouts of asthma and had pneumonia.
Began having trouble with a severe startle response as a teen-ager and also began experiencing frequent falls.
In his mid-twenties, neurologists thought he may have mitochondrial disease, but no tests confirmed that.
Began having seizures in 2008, as well as blood clots (Pulmonary Embolisms) and DVT's in legs.
Diagnosed in 2008 at age 29 with MeCP2 Duplication Syndrome.
Passed away in July 2010 at age 31.
Josh was a very active and happy child. He only ever spoke about 60 different words but he was quite social and was always able to communicate his needs.
He loved animals, music, playing the guitar and also played many sports. Josh could run and play basketball and football for hours at a time!
Josh loved the water and enjoyed his bath every day. He loved swimming in pools and the ocean and kayaked and went on many boat rides.
Josh enjoyed vacuuming when he was young and later mowing became his favorite chore. He had an electric mower and loved to mow the grass.
Josh brought so much joy to all who knew and loved him and we miss him every day.
In Memory of Noah Benjamin Albert
4/12/00 - 3/24/06
Dear Mommy & Daddy,
I want you to know that I’m doing great
Jesus was waiting for me at Heaven’s gate
This place sure is a lot of fun
I feel so safe and secure wrapped in the arms of the Holy One.
Mommy, you’re right
Jesus is the shining light!
He has made me whole and I suffer no more
All my pain ended when I entered Heaven’s door.
This place is really neat!
It’s here that I get to walk on my own two feet
My wheelchair I no longer require
Now I’m dancing as much as my heart desires.
Medicines are a thing of the past
And doctor’s appointments have ended at last
No more needles, no more tests, no more fevers
Only fellowship in heaven with other believers.
The Bible was right
I no longer have to fight
My seizures are gone, my sight is better and I don’t have any pain
My future’s in Jesus’ arms where I’ll never be the same.
The tube from my belly has been taken away
My life is so much better today
My tears are a thing of the past
I’m a changed boy for the scripture has been fulfilled at last.
Daddy, I remember those hymns you sang to me many times
Praising the Father and giving Him glory
I’m singing those same songs now with all my might
And it’s bringing the Father such delight!
Today Jesus and I sat beside the crystal sea
Where we looked down on you both as you thought of me
I know that this is very hard for you
But please know that I have been made new.
I’m playing now and having so much fun
I’m in the presence of the Father and the Son
There is no better place
Then here in heaven looking right at His face.
I will always love you and remember the joy
Of being your special little boy.
Child's Name: Oisin
Birth Date: April 3, 1996
Parent's Name: Lynn
Siblings: Emma, Craig, Darren
Other Affected Family Members: Brother Darren
Date Diagnosed: 1996
*Walked - 4 years old
*Said some words
*Turned on tapes, opened doors, turned on lights, rattled door handle to get attention
*Developed epilepsy - 11 years old
*Turned on TV, could feed himself with his hands, and loved to take others food when they were not looking
*Oisin had scoliosis but due to an operation to put a peg in, Oisin never got to have his operation to straighten his spine and, unfortunately, Oisin lost his life on March 2, 2012, but he has left so many special memories and is missed so much.
Child's Name: Seth
Birth Date: February 13, 2001
Angel Date: February 13, 2012
Parents: Ross and La Tisha
Siblings: Stone (brother) dob 10-15-99 dod 2-24-11
Date Diagnosed: November 2007
*When Seth was about a year old, his parents knew that he had some of the same delays that his older brother, Stone, had so they started their search to find a diagnosis.
*At the age of 3, Seth was able to use some sign language to communiate his needs (drink, dog, more please, and his favorite book).
*At age 4 1/2, Seth started to walk without his Kay Reverse Walker.
*When Seth turned 6 years old, his brother Stone was diagnosed with MECP2 Duplication and then they were able to finally get Seth's diagnosis in November after mom was tested and found to be the carrier.
*At the age of 3, Seth's only health problems were constant constipation and four seizures which were controlled with medications.
*At the age of 7, Seth's seizures started to get out of control and it affected his ability to walk. He started to lose balance and fall a lot so he started to use a wheelchair.
*At the age of 8, Seth started to aspirate his liquids. Thick-It was used at first but eventually he went to not drinking or eating anything by mouth. A G-tube was placed and he received all his feedings through the tube.
*At the age of 9, Seth started to get lung infections, pneumonia, and bronchitis several times.
*Seth is now 10 years old and is still having health issues. He was admitted to the hospital in March with H1N1 that almost cost him his life but Seth is a fighter and he got better. Since then Seth has had two more bouts of pneumonia.
*Seth always loves to be read to and to listen to music.
*He loves his family and is a happy little man.
*He has lost so much of his abilities in the last few years but he is a wonderful boy who stays strong.
*His mom and dad are very proud of him.
December 10, 2004 - October 9, 2008
UPDATE: May 2009
Tarun's parents were informed that Tarun had MECP2 Triplication and Filamin A gene duplication.
Name: Tarun V
Birth Date: 1 2/10/2004
Siblings: 1 Brother - Healthy
Other affected family members: Cousins, mom's younger sister's 2 sons, died at age of 8 months with pneumonia
Reside: Virginia, U.S.A.
Diagnosed: MECP2 X Gene duplication in January 2007
Had severe acid reflux and temperature control issues at birth, did not need oxygen.
Passed hearing and vision test at birth.
Acid reflux for 3 months caused aspiration and lung damage and had to rush him to hospital and since then needed oxygen.
Was put on 02 and CPAP at night because of constant de-sats, feeding tube.
He was sucking his thumb, got excited with the toys tied above him, pushed himself to side to look at things behind his head, and rolled from tummy to back, giggled when bounced and smiled when tickling chin or rubbing hands.
Had 3 blood transfusions, multiple RSV attacks and had to be Trached in December 2006, as he was diagnosed with Bronchio Tracheomalasia.
Came home on ventilator with high pressure. Had been having spasms initially and progressed very fast to multiple hypsorythemic seizures, EEG shows seizures all the time, some visible most invisible.
He started fighting vent in August 2008 and hence we took him off the vent, and he apparently got stronger in this tracheo malasia and he is breathing by himself.
Currently having Zonegran and Depakote for seizure medication, and Clonezopam and Diastat for emergency, but none work to completely eliminate seizures.
He is not rolling on his side or back anymore. Not sucking fingers, not responding to sounds and does not concentrate on anything for more than a second. He will follow some people with eyes that's all.
Does not smile anymore, still takes food through feeding tube with evaporated milk and blenderized fruit or vegetable.
Gestational diabetis from 10 weeks
Excess amniotic fluid
Induced delivery because baby was not gaining weight
C-section because baby was losing heart rate after water was broken.
Birth Date: December 4, 2010
Reside: North Carolina, USA
Parents: Alexandria and Jonathan
Diagnosed: February 4, 2011
*Tatianna has both MECP2 Duplication Syndrome due to a chromosomal translocation and Phelan-McDermid Syndrome.
*She has a small head, poor muscle tone, optical nerve is too small, enlarged liver and spleen, abnormal liver enzymes and functions.
*She doesn’t move well, doesn’t feed and barely sucks. She can’t latch onto a bottle or breast.
*Has a huge PDA that has still not closed on its own (is having surgery as soon as her nectotizing endercolitis is over).
*Requires oxygen and has never left a hospital. Her liver and breathing problems are unexplainable.
*Doesn’t cry, only makes kitten noises. Can’t hold her head up for more than 2 to 3 seconds and doesn’t reach or grab for things.
*Looks like a normal baby except for some mouth deformities. She has a high palate and what they think may be either cysts or prenatal teeth and the little string of flesh that holds her lip to her top gum is very tight and short so it pulls her top lip up and keeps her from latching onto almost anything.
*She likes to chew her hands and passy.
*Her feedings are through a NG tube.
*She seems very alert and follows people with her eyes and head when she is really happy and in a good mood. She likes to have her head, forehead and her feet rubbed.
*She has webbing of her second and third toes.
*She does have a Mongolian spot on her bottom...typical of Asian and some Hispanic babies.
*She is very hairy...hairs on her ears, shoulders, back, legs and arms.
Update - April 2011
Tatiaana passed away on April 25, 2011 at 3:17 AM.