Has your child been diagnosed with MECP2? Submit your child's profile to the website here!
Child's Name: Abdul
Birth Date: September 6, 2006
Parents: Farzana and Nasir
Sibling: Mariam (sister)
Other Affected Family Members: None
Reside: Manchester UK
Date Diagnosed: November 28, 2010
Birth Date: August 5, 2010
Parents: Jose and Ana
Other Affected Family Members: Mom is a carrier.
Reside: Barcelona, Spain
Date Diagnosed: November 2013
*Diagnosed with Benign External Hydrocephalus.
*Diagnosed with tripling of the MECP2 gene.
*Had reflux until he was almost 2 years old.
*Walked a month before he turned 2.
*Makes repetitive movements, such as clapping.
*Sensitive and any changes affect him.
*Very happy child.
*Loves music and stories.
*Understands what is said.
*Attended daycare and the next course will be co-teaching at school.
Laura e Rccardo
Other Affected Family Members:
Disabilità intellettiva di grado medio-grave in bambino con sindrome da duplicazione MECP2 (dup.Xq28)
Svezzamento regolare a 6 mesi, alimentazione varia.
Permangono difficoltà di deglutizione soprattutto dei liquidi e difficoltà di masticazione.
Ritardo nell'acquisizione delle tappe posturo-motorie con posizione seduta 13 mesi; deambulazione autonoma a 3 anni preceduta spostamenti in shuffling.
Linguaggio caratterizzato da vocalizzi e alcune sillabe con rari raddoppiamenti.
Buona l'intenzionalità comunicativa.
Bambino soggetto a ricorrenti infezioni alle vie respiratorie con desaturazione.
A 5 anni sono comparse sospette crisi epilettiche di tipo piccolo male "assenza"
Name: Alexander Peter
Birth Date: July 26, 1993
Parents: Venessa & Peter
Siblings: Rebecca, Emily - Cassie & Emma (Half Sisters)
Other Affected Family Members: James Lloyd (Half Brother) Born July 17, 1979
Reside: West Sussex, England
*Alex can sit by himself and drink from a spouted beaker.
*He can weight bear when well.
*When well he can put spoon to mouth and feed himself.
*Enjoys hugs with family members and close friends.
*Has three different types of seizures - Tonic Clonic, Drops and Absences.
*Fed via a gastro tube.
*Poor circulation, has enlarged liver.
*Has had internal bleeding, chest infections, pneumonia, collapsed lung.
*Has hip dysplasia, curvature of the spine, arthritis, poor muscle tone
Name: Alfie Lund
Birth Date: January 5, 2008
Parents: Rachel and Mark
Other Affected Family Members: None Mother is the carrier.
Reside: Lancashire, England
Date Diagnosed: January 19, 2012
Milestones: Sat unassisted at 13 months old. Bottom shuffled at 2 and a half years old. He said dada and mumum at 9 months, but he has lost all speech until approximately 3 years old. He now says mumum and dada, mamron (Cameron) regularly, occasionally says g'dad (grandad), iger (tiger), gargen (garden). He can now also say finished and more with sign language.
*Held a cup and drank from it at 2 years and can feed himself finger food.
*Pulled himself up to standing at a table at 4 years.
Other Information: Alfie has had repeated chest infections and two serious episodes of pneumonia, although they have become much less frequent in the last 18 months.
*He is a very happy boy and very determined.
*He seems to know what he is supposed to do and tries so hard!
*He also has a lovely sense of humour and seems to understand when things are funny.
*He is a very special boy.
Birth Date: April 1998
Parents: Fabrice and Sophie
Siblings: William (older)
Other affected family members: Sophie's 2 brothers
Sat at 3 years old
Stood at 5 years old
Walked at 6 years old
Often catches a cold and bronchitis
Has low muscle tone, hypotonic
Moves his fingers like he is knitting
For meals, he spits up and burps often and does not support pieces
Likes to chew on the ends of his clothing
Dribbles a lot
Enjoys eating and likes good meals
Likes music, books, magazines and television
His favorite animal is the horse
He does not speak, but he laughs a lot
UPDATE: April 2009
Arnaud is still progressing slowly. He learned to climb stairs with the physiotherapist and loves playing the piano. He does use the computer with software for children and he understands how to use the mouse.
Birth Date: Feb. 27, 2008
Parents: Bertrand and Valérie`
Other affected family members: Mom is a carrier but nobody knew the family because no cases known before
Reside: Ballaigues, Switzerland
Diagnosed: September 2009
Takes things in this hands
Takes a few steps by holding but not balanced well
At 22 months, started to say the syllables (papapapa. .. mamamamon)
He's a good child
Loves to eat
Loves to look at books
Loves his big brother
Smiles a lot
Birth Date:February 2003
Parents:Axel and Eva
Other Affected Family Members:Jonathan
Reside:southern part of Germany
Date Diagnosed:August 2010
Milestones:first smile - three months
sitting without help - fourteen months
first crawling - two-and-a-half years
Benedikt is hypotonic and drools a lot.
He easily catches colds and suffered already several times from bronchitis and pneumonia. He uses an inhaler helps to deal with his respiratory infections.
He has a bad constipation (for which he is given Movicol Junior).
When being awake, he grinds very often his teeth.
When he is excited, he flaps with his arms and legs.
He likes to knock on walls, doors, furniture of any kind, but only with his right hand.
He likes to bit hard on his left thumb.
Also, he is always busy playing with the hem of his trousers (for which he puts his left foot on his right knee).
He absolutely loves eating. He can feed himself using his fingers and also the fork (but one has to load it for him). We have to take care that he does not overeat. He knows how to drink alone from his special cup.
He doesn't know and use language but he knows his name. When he is happy he sings (Ga-ga-ga) and enjoys snorting through his lips.
Benedikt can crawl and has a good control of his torso. He sits stable. He can also carry his weight on his feet for a short time and , when assisted, walks a few steps - if he wants to! At school, the teachers practice with him in a special device.
For normal transportation, he has a wheelchair (but he cannot operate it by himself).
Although he sometimes needs time for himself, he loves being together with other children. He started school in September 2009 and it is great for him. He made good progress since then!
Music is one of his favourites, especially live! Aside from that he likes the sound of vacuum cleaners and hairdryers.
Driving in the car is also popular with Benedikt as is swimming and bathing. Wild games with Dad are also very fine or going on the swings and the trampoline.
He needs a strict daily rhythm (sleeping, eating,...) and doesn't tolerate deviations from this schedule very well. He needs time to become familiar with strangers and new places.
Child’s Name: Blake McMillan
Birth Date: March 21, 2012
Parents: Jenny & Paul
Other Affected Family Members: None (De novo event)
Reside: Dundee, Scotland
Diagnosed: April 10, 2012
*Started small smiles – 5 months
*Slight giggles – 6/7 months
*Blake has global development delay. He cannot sit unaided or roll over.
*He does not suffer from seizures, and has been very healthy since birth.
May 1, 2007
Ramona and Robert
Child's Name: Clement
Birth Date: July 2, 1995
Parent's Name: Pascale and Michel DUPUIS-MARTIN
Other Affected Family Members: Romain, Clement's young brother
Date Diagnosed: January 2007
Child's Name: Conor
Birth Date: November 5, 2006
Parent's Name(s): Deirdre & Declan
Other Affected Family Members: None - Mother tested and is not a carrier
Reside: Dublin, Irleland
Date Diagnosed: August 2009
Diagnosed with Global Development Delay: 13 months
Sat independantly: 13 months
Rolled over: 15 months
Walked while supported under his arms: 18 months, but has stopped this sometime ago.
Stands with support, but doesn't walk or crawl.
Has no words but does vocalize.
*Conor is very sociable with a really happy demeanour. He smiles and laughs continously and is generally content.
*He is very sensitive to loud noises and starts very easily.
*He has global developmental delay, hypotonia and chronic constipation taking Movical daily.
*He has been hospitalized on four occasions to date (Sept & Oct 2007, Aug. 2008 & Dec. 2009) all respiratory related and is on inhalers daily to assist breathing.
*He grinds his teeth all the time and his feet are very small.
*Conor LOVES his food and can finger feed himself, although must be supervised as he would over stuff his mouth.
*He also LOVES music and dances by rocking and waving his arms. He flaps his arms and legs when excited also. He enjoys Mickey Mouse, Winnie the Pooh, Bear in the Big Blue House and Barney.
*He is attending an early intervention pre-school three days per week and receives speech & language, physio and occupational therapy while there daily.
*While Conor isn't demonstrating great affectionate tendencies he cleary loves a lot of TLC and loves play time with mum and dad.
Child's Name: Cristina
Birth date: October 4, 2000
Parent's Names: Manuel and Amparo
Siblings Names: George and David
Other Affected Family Members: None known
Reside: Valencia, Spain
Date Diagnosed: October 2009
Began to speak - 11 months of age
Began to walk alone - 2 years old (walked previously with help)
Early in life, she sometimes had episodes of hiccups, did not play with toys and was angry often.
With physical therapy, she is insecure and is observed hypotonia and little balance (doesn't run, does not stand on one foot and can't climb stairs), can not fit or stacking pieces to make a tower.
Until 4 years old we've taken her to the pool 3 times per week with monitor.
At the age of 3 years of age, she began her pre-primary stage in a normal school, but at the age of 6 switched it to a special school (with support of physical therapy, speech therapy, etc).
In February 2007 was admitted to the hospital for crisis epilepticas.
Now Cristina, at 9 years old, is speaking rather more and better though still does not produce more than 4 word phrases. She is very affectionate with everyone, especially with her dog though sometimes hurt. She can't read or write, but begins to identify some numbers and colors. She is able to work on simple puzzles and perfectly fit together the pieces. She now spends more time with her toys. She loves music and looking at pictures. Still not completely potty trained, although sometimes calls and occasionally goes to the bathroom alone. Washes hands and teeth without help. Eats and drinks unassisted. Can mostly dress herself and also helps her mother with the household chores. Runs, jumps, dances although leg still fails almost every day, and sometimes falls to the ground. She loves to go to school, to the pool, the beach, the park. Still cries when her mother goes to work, although calms shortly. She enjoys being with other children and plays with them.
Note from Dr. Ramocki:
Girls can have the same syndrome as boys when the duplication is translocated to an autosome (non sex chromosome). In these cases, the bad copy is not subject to X chromosome inactivation. There are also some girls with non favorable skewing of X inactivation who are more mildly affected.
Child's Name: Darren
Birth Date: June 30, 1993
Parent's Name: Lynn
Siblings: Emma, Craig, Oisin
Other Affected Family Members: Brother Oisin (deceased)
Date Diagnosed: 2004
*Walked - 3 1/2 years old
*Said some words for a while
*Turned on tapes, learned to work the telly but only when no one was looking, opened doors, rattled door handles for attention, learned to turn on the lights, kicked and threw a football, turned the wheels on toys
*Feed himself with his hand, drank from feeding cups and from normal cups
*Got epilepsy - 11 years old
*Has lots of different types of seizures which are not controlled with medications. Seizures are not as bad now as they were before.
*Due to the seizures he has stopped walking as he fell a lot
*Had a lot of aspiration pnemonia so is peg fed now and his health has improved.....he lost most of his abilities until the aspiration was diagnosed but now he is getting his life back.
September 24, 1994
Sarah and Shelley
Other Affected Family Members:
David has reached his 16th birthday. He was only diagnosed 2 years ago. Up until then he had lots of different names for his condition.
David started off his life crying all the time, he lost the ability to breastfeed at 9 weeks old and then struggled with milk so he had to be put on soya based milks. He also had an anal stretch as he could not operate his bowels and, still today, uses enemas.
He was born with only one kidney that worked, he was a floppy child, and had a larger head than normal. He was able to support himself and say a few words but has lost these abilities now.
He can let his parents know what he wants, he cannot speak, just sing. He is very stubborn. Still requires help with feeding, still wearing pads, gets around on his knees and much more with limitations.
David was diagnosed with ataxia, bowel disorder, one kidney, milenation, demilenation, severe global developmental delay, aspirates, constant chest infections and no speech.
Birth Date: June 2, 2000
Parents: Kasia and Marek
Other affected family members: mother is carrier
Diagnosed: July 28, 2008
Sitting – 8 months old
Standing – 12 months old
First steps (walking) – 2.5 years old
*Multiple hospitalizations – years 2003–2007 – mostly because of returning problems with infections of upper respiratory tract, asthma, third tonsil, anemia.
*Dawid is very cheerful and joyful child.
*He loves to eat, he could eat all the time so food has to be hidden not to attract him.
*Requires another persons assistance to use spoon or fork, but he can drink from a cap also using a straw.
* Slobbers quite often.
*Walks on his own, but he’s not really confident doing it and he spreads his legs widely to gain more stabilization.
*Needs assistance to use the stairs both ways (up and down).
*Cannot catch, throw or kick a ball.
*Constantly makes manipulative moves with his palms and fingers (he carries his favorite objects in plastic bags with him).
*He’s interested in new things, but just for a moment.
*His favorite way of spending time is to stand in the window and watch cars passing by.
*Likes to watch colorful books, magazines, television.
*Likes dance music, tries to dance.
*He’s scared of church music.
*Often infections of upper/lower respiratory tract
*Psychomotor development disorders
*Currently in 4th year of individual teaching at family home
Child's Name: Guillaume
Birth Date: 10/08/2001
Parent's Name(s): Christophe and Nathalie
Siblings Name(s): 2 sisters (from a first marriage of Nathalie) Elise (20 years old) and Cecile (16 years old)
Other Affected Family Members: Nobody - Nathalie was diagnosed in 2009 as a carrier of the duplication. Elise waiting result of genetic test (March 2010). Cecile will test when she reaches her majority.
Date Diagnosed: November 2008
Walking on all fours
November 2005: Rates of growth hormones
2006: Stands up in support
March 2007: Walking with walker
July 2007: Epileptic seizures
April 2008: Fracture of the tibia. Guillaume didn’t want to walk.
Says a few words: mamaman; papa; sicily (for Cecile)
From 2004 to 2009 many hospitalizations for severe pneumonia and epilepsy.
A sweet boy who adores his family, music, books, bathing, walks, toys.
Often has poor thermal regulation (hands and feet frozen).
Has daily absence seizures, head drops
Birth Date: December 2, 2007
Parents: Stacey and Martin
Siblings: Thomas (Passed away in 2012)
Other Affected Family Members: Thomas
Date Diagnosed: September 2012
*Needs help with most daily tasks but is always learning.
*Very independent and understands what is asked of him.
*Can walk but has no speech.
*Can finger feed and is always trying to feed himself.
*His brother, Thomas, who passed away in 2012 needed a lot more help.
Birth Date: November 1998
Parents: Sarah and Kevin
Reside: West Sussex, England
Diagnosed: August 2007
Sat at 13 months.
Crawled at 23 months.
Still not walking.
Global developmental delay
Enjoys chewing on toys
Seizures (started at age 7 years)
Does vocalize but can’t say any words
Loves bath time and the swimming pool
Dribbles a lot
Moves his fingers like he is knitting
Has problems with constipation
Was weight barring (stopped 1 year ago)
He LOVES his food
Child's Name: Jannik
Birth Date: 2005
Parents: Heike & Christian
Siblings: Elina & Nina
Other Affected Family Members:
*Mother is a carrier.
*Sister, Elina is also a carrier.
*For sister, Nina, the duplication was also detected but there is a discrepancy with the findings of the mother and sister. Much of the centrally located to be present in the duplication region located at the FAM58M gene in only two copies.
*Nina is clincally healthy, what exactly happened to the X chromosone is yet to be determined.
Reside: Monchengladbach, Germany
Diagnosed: May 2007
Milestones: Free sitting at 18 months
*Jannik cannot crawl but can turn from supine to prone position and back again and can sit up from a lying position.
*He does not speak. Only intelligible word is "Mama."
*Can communicate by facial expressions and gestures very well to indicate his wants and whether or not he is okay and if he doesn't like something, etc.
*He can take pieces of bread, fruit, etc. from a plate and bring it to his mouth with some support of his left hand. He is able to drink from a special cup.
*He has had numerous respiratory infections. Coughing is hard for him. He suppresses the urge to cough.
*In October 2009, he had his first epileptic seizure followed by two more.
*Jannik loves food, is very happy to hear music, likes going for car rides, loves to be in the company of other children but also needs his rest. He loves the sound of the vacuum cleaner and hair dryer.
*Has has a wheelchair since he was 3 1/2 years old.
*He is hypotonic in his trunk.
*He has sterotyped movements with his hands. Often has his fingers in his mouth or is chewing on his security blanket.
*He laughs often, but only if he is okay. Otherwise, he is a quiet and sensitive boy.
*His eye-hand coordination is impaired.
*He needs diapers.
Child's Names:Jules and Edouard
Birth Dates:Jules - September 12, 1991, Edouard - January 16, 2001
Parent's Name(s):Sophie and Michel
Other Affected Family Memebers:The two brothers both have the disorder. Their mother is a carrier.
Jules - Sat up at 12 months, stood at 20 months, walked at 30 months, lost ability to walk at 10 years
Edouard - Sat up at 12 months, stood at 20 months, walked at 30 months
Since birth, Jules has had recurring health problems and has been hospitalized repeatedly. Suffered severe birth asphyxia. Has gastro-esophageal reflux disease and asthma. Has experienced pharmacoresistant seizures since 4 years of age. Has suffered from bilateral osteochondritis dissecans since the age of 5. Lost his ability to walk following the appearance of symptoms related to epilepsy and osteochondritis. Has had mobility through the use of a wheelchair since the age of 10. Has had a g-tube since the age of 14, prior to which he had a good appetite and enjoyed eating. Often constipated. Has always required diapers. Drools significantly. As of 2010, requires a breathing mask while sleeping. Has had recurring pneumonia and other lung infections - two cases (one in 2005 and one in 2010) were particularly severe and required hospitalization and resuscitation. Jules is very courageous and has a high tolerance for pain. He is very aware of his environment and loves life. He is always smiling and has a deep understanding of his surroundings and situation. Cannot speak, but communicates extensively through his expression. Adores farming, and in particular, tractors. Loves photos and videos of his family, as well as music. Care - lives at a specialized medical center during the week. Comes home on weekends and during holiday breaks, as his health allows.
Since 9 months of age, Edouard has undergone special therapy to accommodate for his delayed development (including stimulation and socialization). Is often constipated. Does not require special medical treatment. Is rather anxious and easily stressed. Detests loud noises. Has periodic tics, such as chewing his shirt sleeves, frequent touching of his ears, grinding his teeth and putting his fingers in his mouth. Still requires diapers. Unable to run or jump, but walks well and rapidly. Can speak in short phrases of 3-4 words. Adores school, his older brother Jules and family. He loves his weekly pony riding lessons and going to the pool. He loves to eat. Much like his older brother, he loves photos and videos of his family. Adores having stories told to him. Is the most relaxed when he has his whole family (parents and older brother Jules) sitting together in the living room. Understands well his environment and the situations around him. Is always smiling. He loves computers and is very comfortable with the mouse. He likes to use an iPhone or iPad. Care - lives at home, but spends half of his days at school and half in a specialized center. Is seen by a speech therapist, orthoptist, osteopath and sophrologist.
February 19. 2006
Bjørg Karin and Pål Terje
Other Affected Family Members:
Walked when he was 2,5 years old.
He is a happy child and love books. Magazines. TV and his Ipad. He is a healthy boy and he enjoys beeing around other kids.
Child's Name: Liam
Birth Date: March 7, 2007
Parents: Amanda & Lee
Siblings: Shannon & Millie
Other Affected Family Members: Uncle Kevin's mother's brother who passed away in 2007 at the age of 13.
Date Diagnosed: October 2007
*Liam can sit up by himself and crawl around the floor.
*He can pull himself up to stand holding onto furniture for support.
*He can feed himself with support from an adult. He drinks by himself out of a special cup.
*Liam cannot walk or talk but is learning makton signs.
*He is a very happy little boy who goes to a special needs school which he loves.
*He has a walking frame so he can walk about like his friends.
*He enjoys hydro and rebound therapy at school.
*Liam's favorite toys are wheels. He loves anything that he can spin. He also loves to sit and watch the washing machine at home especially when it goes into spin. He will go all stiff and shake his arms getting so excited.
*He likes to be a bit mischevious at home by touching things he shouldn't and getting into the cupboards.
*He has a special major buggy he uses to go out. He also enjoys going in the car and to the park.
*Liam has trouble with constipation and is on Movicol to help with that.
*Liam often makes himself sick by sticking his whole hand down his throat. He has to have a chewy toy or dummy to distract him from doing this.
*He gets colds very easily and chest infections which he takes medication for. He has been in the hospital a few times but nothing too serious up to now.
Birth Date:May 8, 2002
Parents:Tina & Jakob
Other Affected Family Members:None, Mother is a carrier. Lukas has duplication on the X - chromosone, in Xq28.
Date Diagnosed:February 10, 2011
Milestones:Sat by himself at 11 months
Crawled at 19 months
Walked at 42 month (3½ year). Very unstable walk, but he was walking :-)
Other Information:Lukas is a very happy boy and we love him just as much as we love is younger brother Elias. Lukas is a very special boy and gives so many things that no “normal” child can do.
He is an extremely active boy. He has great trouble relaxing and he is here and there and everywhere all the time. We are in constant "surveillance" of him because he can do so much damage on everything from vases to pictures on the walls. It is not in bad sense but simply a question of him acting like a child at 1 to 1 ½ years. So really loves when he goes to sleep at night.
When he is excited, he flaps with his arms.
Lukas drools a lot and has always done that. Most of the time his tongue is visible and his mouth is always slightly open.
He basically always has his fingers in his mouth which doesn’t make the drooling better.
Lukas’ first 6 - 7 months consisted mostly of crying. The only thing that made him stop crying was when he was breastfeeding. He stopped breastfeeding at 8 months.
Lukas suffered much from reflux until he was 2 years where it slowed a bit. He is still suffering from reflux and is to have a medical therapy for gastric acid with Losec.
Lukas grinds his teeth a lot, but only when being awake.
He has in his short life already had 6 to 8 pneumonias. The latest was in spring 2010 when he went through antibiotic treatment for 21 days before he was well again.
Until his fourth year he was a bit overweight. It was as if he never had a sensation of fullness and continued to eat until we stopped him. This has fortunately disappeared with age. However he still exhibits this behavior when he drinks. The problem is especially if served sodas. Then he can drink until he simply throws up. So for example at family celebrations and the like should we keep a close eye on how much he drinks.
He loves to watch TV. Especially, he is glad to see home videos where he appears. He also loves looking at pictures of people he knows. He has a whole box of pictures in his room which will be looked through 3 to 4 times a day. He also loves to sit with Dad at the computer and watch the same movies and pictures.
He started at a school for children with special needs in 2009. This is a very good school for Lukas and he is also very glad to attend every day.
Last but not least, he has autistic characteristics. He has a sterotyp motion with his right hand and often sits and rubs his hands in front of his face.
Birth Date: July 28, 2005
Parents: Barbro and Magnus
Siblings: Agnes, born 2002
Other affected family members: None - Mother and father are not carriers of the syndrome. Melker has duplication on the X - chromosone, in Xq28 and the duplication is 2.7megabase large.
Reside: Åland Island, Finland
Diagnosed: August 2008
Turned to his back at 8 months old.
Sat by himself at 2 years old.
Extremely happy and social child who makes steady eye contact. Frequently smiles and enjoys being around people- especially children and the ones he loves.
Likes to walk assisted in a harness/carrier, especially outdoors.
He has a walking device on wheels that he can go around the house with and also follow his family members to another room.
He has a standing device "gazelle" to make him put a load on his skeleton.
Hypoplasia of the corpus callosum was found on brain in MRI in 2006.
Severe acid reflux as a child almost until 2 years old.
Cow milk intolerance until 1 year old.
He maintains a predictable sleepschedule with around 11-12 hours of sleep per night.
Takes "Movicol" daily for constipation.
Constantly puts something in his mouth.
Was not born with protective reflexes so falling is still a concern while sitting; but is getting better all the time.
Melker loves books (he turns the pages by himself), baths, swinging, music, toys that make sounds and vibrate, and balls.
Enjoys biting a lot, especially chew toys.
When he was younger he always had a running nose with a wheeze in his chest, but has never taken antibiotics.
Low muscle tone, hypotonic.
Does vocalize but does not say anywords.
Can wave his hand for "good bye" if he gets A LOT of time, 2-5 minutes to reflect and react, after 6-8 months of hard training.
Eat with his hands. Can drink from a cup or glass if someone hold the glass for him.
Occasionally has repetitive hand and arm movements -- almost like knitting.
He loves to eat a lot, often andeverything.
Bites his own arm when tired orfrustrated.
Gets Physiotherapy includinghorseback riding and communication training.
He has choked many times from overstuffing his mouth and not chewing enough.
Birth Date: September 23, 2001
Parent's Name: Catherine
Date Diagnosed: April 18, 2011
*Sat - 10 months
*Used single-syllable "mama" "baba" - 18 months
*Likes to eat
*Has epilepsy and is on two seizure medicines.
*Has a problem with vision so he wears glasses.
*Does not talk.
*Patryk is happy.
October 5, 2000
Linda and Timo
Other affected family members:
Phillipp was a quite a normal boy for his first 4 years. He was walking at 18 months and learned to ride the bicycle at 5 years.
August 10, 2000
Phillipp is 3 days old and at the Hospital at the University where he had to be hospitalized. It has brought an infection in the mother's womb.
The doctors have sent me to human genetics in Giesen.
The doctors of Humangenetikt said that Phillipp could have Nonen Syndrome.
Phillipp is 1 1/2 years old and learning to run but has asthma.
In between time are we (Ostfriesland) moved back to Lower Saxony, Germany. Now Phillipp must go to Oldenburg in the clinic to investigate why his cry is still too soft. Here we met a physician who said it was not Nonen Syndrome.
Phillipp now wears glasses.
Phillipp enters the Heilpedagogischen kindergarten.
February 1, 2004
His sister, Samantah, is born.
Samantah is 10 months now and running.
Phillipp is very ill with pneumonia and asthma.
He is hospitalized a lot.
And Phillipp changed. He is no longer the love boy, he is now aggressive.
May 20, 2005
Phillipp learns to ride the bicycle. We are very proud of him.
We again move to offer Phillipp a better school.
He learns writing, mathematics, and reading but he is still very ill....up to 5-6 times in hospital.
Phillipp defecates again, once again wearing diapers.
We received a notification from Bremen of human genetics that Phillipp has MECP2 Duplication Syndrome.
Examined for ADHD but does not have it.
Phillipp is psychologically evaluated to find out why he needs a diaper again.
We drag Phillipp ashore.
1 year without hospitalization for pneumonia and asthma.
Phillipp is less aggressive, it as changed.
Birth Date: April 16, 2003
Parent's Name(s): Dominique and Alain
Reside: Nord, France
4 - 9 months: she cried a lot and milestones were not reached in normal time. It was difficult to make eye-contact and she did not respond.
9 months - 8 years: She became a very happy and always smiling little girl. We worked really hard on motor skills and communication. She could crawl, walk with our support or walking device and we communicated on a low level with pictures, and she enjoyed it very much! She couldn't speak, but understood more than we expected. Unfortunately, she was hospitalized several times (pneumonia 18 x, renal pelvis 2 x)
8 years - till now: In May 2009 she had surgery for hip dysplasia and in October epileptic seizures started. Within 2 1/2 month she had 80 seizures a day and was hospitalized to speed up the search for medication. These two things had such impact, she is quite another girl now. Seizures are still not completely under control (still 6 a day) and medication also weakened her and she doesn't really show emotions now. Almost all her motor skills were gone after surgery, and we hope someday, we find the right medication to control the epilepsy, and she can learn to crawl and stand again. But most important: we want to see her smile again!
We keep a diary (in Dutch) on the Internet about Romy:
with photo's, video's of her etc.
Child's Name: Ryan
Birth Date: September 29, 2005
Parent's: Matty & Maya
Reside: Schiedam, the Netherlands
Diagnosed: January 2009
*Sits on his own.
*Stands with help.
*Drinks on his own.
Child's Name: Sebastian
Birth Date: January 16, 1996
Parent's Names: Anita and Freddie
Sibling's Name: Kristoffer
Other Affected Family Members: His brother, Kristoffer
Reside: Skui, Norway
Date Diagnosed: February 2007
*Walked when he was 3 years old.
*Walked until December 1, 2008.
*Very happy and social.
*Epilepsy - VNS surgery November 2008
Child's Name: Stan
Birth Date: March 31, 2004
Parents: Jan Willem and Carola
Siblings: Julot (Stan's twin sister), Cas '98
Other Affected Family Members: None
Reside: The Netherlands
Date Diagnosed: 2007
*The first 3 years of Stan's life he was wrongly diagnosed with Joubert Syndrome.
*2005 - Surgery for Percutaneous Endoscopic Gastrostomy Catheter because of aspiration.
*2005 - Takes Thyrax for his slow metabolism.
*2006 - Tubes in his ears because of fluid behind his eardrums.
*2006 - Stan can drink his bottle and eat pureed foods.
*2006 - Stan wears glasses (both eyes -6 and astigmatism)
*2007 - Stan sat on his own but has since lost that function because of his scoliosis and hip dislocation.
*2009 - Stan had an autonomic assessment in Sweden in the Rett Center. He had a lot of breathing problems. The doctors said Stan is a phenotype of Rett Syndrome because he has 7 different breathing patterns. HIs brainstem is immature.
*2010 - Stan did a test treatment for hydrocortison in a very low dose because he was showing signs of Addison's disease and getting unexplained fevers. He now gets hydrocortison 3 times a day and a new world has opened up for him. His chronic upper airway infections are gone! And also is his unstable temperature! This is the biggest milestone! He also had acute vasoconstriction and these symptoms are all gone because of hydrocortison. This medication has stabilized him for a large part but his breathing patterns never changed.
*Stan is very hypotonic.
*Stan doesn't speak or walk.
*During his first year of life, he had several pneumonias and was intubated for 2 x 3 weeks. His parents almost lost him that year.
*He destats during the night and that's the reason that he gets oxygen.
*When his tonsils were out he did a whole lot better. His adenoids were taken out three times. Every time after surgery he did a lot better. However, he still needs oxygen for nighttime sleep.
*Stan still sleeps in the afternoon.
*He doesn't have epilepsy.
*Stan is a very happy boy. Loves bathing, books, lights, people, especially children. Smiles a lot. He's a very cuddly child who adores his big brother and sister. Crazy about the school bus, tractors and everything with wheels. He loves food!
*Sleeps for about 8 hours at night. He often wakes up and plays with toys probably because of his breathing-stops. When he was little he panicked but now he's only awake for a little while.
*Mediation at the current time: Vitamin D and multivitamin because of his brittle bones (osteoporosis), Zithromax antibiotics on prophylactic basis, Nexium antacid, Movicol Jr. for his constipation, Thyrax for his metabolism, Hydrocortison to help his autonomic dysfunction stabilize.
*Another part of a chromosome is duplicated.....SOX3.
*Stan has translocation of his MECP2. One piece is duplicated on his X-chromosome and one piece is on his Chromosome 13.
*The results of his SNP-Array:
46,XY, der(13)t(X;13)(q27;p11,1)dn.ish der(13)t(X;13)t(X;13) (GS-225-F6+,wcpX+wcp13+) The size is 1,5MB
*If you want to know more about Stan, you can read his blog at www.koningwoezel.blogspot.com
Birth Date: June 6, 2002
Siblings: 1 sister, Wendy and 1 brother, Jarod – stillborn but no link with MECP2 Duplication Syndome
Other affected family members: 1 uncle (mother’s brother) died at infancy
Reside: Serémange, Moselle in France
Diagnosed: November 2008
19 months: sitting
26 months: crawling
3 years and 8 months: walking
Loves to eat
Likes books, music and lights
Often puts objects in mouth
Currently learning to eat with fork
Says a few words (yes, drink, Mom, hospital, come)
Very good at understanding a few words and mostly by gestures
Shakes arms and legs when distressed
Smiles and is very sociable
Knows what he wants and does not want to do
Very attached to his mother who is always close by
Respiratory system fragile
Issues with vision
2 years of nursery schools with an auxiliary of life since September 2008
Child's Name: Tom
Birth Date: June 4, 2003
Parent's Name(s): Marta and Pedro Alves
Siblings Name(s): Pedro Miguel
Other Affected Family Members: The first brother, Thomas, died at 18 months and was also a carrier of this rare syndrome and has an uncle (John Doe), brother of the mother of Thomas, Marta is also a parent carrier, as well as her mother.
Date Diagnosed: 2008
Milestones: Thomas does not speak, only makes some unintentional sounds, does not walk and has no standing balance. He has had some serious respiratory problems, leading to pneumonia. Tom has a very strong character and is a very happy child and does attempt to interact with adults and children, although he sometimes isolates himself.
Child's Name:Vincent Rossi
Parent's Name(s):Barbara Rossi
Other Affected Family Memebers:keine
Date Diagnosed:May 2008
Milestones:Das erste halbe Lebensjahr verlief unproblematisch.
Dann fiel auf, dass er nicht mehr nach Gegenständen griff und sich nicht mehr drehte.
Es folgten anstrengende Jahre der Stagnation seiner Entwicklung und häufige Erkrankungen der Lunge.
Mit fast drei Jahren konnte er krabbeln, mit 4 ,5 Jahren konnte er frei Laufen.
Mit 9 Jahren das 1. Auftreten der Fallepilepsie.
2009 Einsetzten des Vagus Nerv-Stimulators.
2009 Entwicklung einer Schluckstörung
Other Information:Vincent ist das bezaubernste Kind der Welt. Er hat eine große Fangemeinde, die er mit seinem Lächeln und seinen liebenswerten Charakter um den Finger wickelt.
Seine Welt besteht aus Musik. Hört er Live-Musik ist er rundum glücklich
Darren & Joanna
Julia & Gene
Other Affected Family Members:
Manchester United Kingdom
William rolled for first time last few days, he is a lovely smiley boy and very happy. He cannot sit or communicate to us. He had a tracheostomy last month andd has gained an enormous amount of strength from this.
He is currently fed via tube but can manage some thickened feed.
Child's Name: Zakk and Liam (twins)
Birth Date: September 23, 2002
Parent's Names: Brian and Nazaline
Other Affected Family Members: None
Date Diagnosed: March 25, 2011
*Liam walked at the age of 3 years.
*Zakk walked at the age of 4 years.
*Both boys have low muscle hypotonia and global development delay.
*They drool a lot and are often constipated.
*They used to get hospitalized because of chest infections because they had a lot of reflux, but not as much now.
*They are very happy.
*They still use diapers.
*They now go to school and have their own learning assistant.
*Liam loves to play with computers and all gadgets with buttons. He also has a passion for music.
*Zakk likes to play with his toys, mostly rattles, and his mother's dishes.