Australia
Has your child been diagnosed with MECP2? Submit your child's profile to the website here!
Name: Asher
Birth Date: 8/27/2007
Parents: Liam and Allison
Siblings: Elijah 5/20/06 and sadly passed away on 2/27/08
Other affected family members: Elijah
Reside: Belmont, NSW, Australia
Diagnosed: June 2008
Milestones:
Sat independently, November 2008
Crawled at the end of February 2009
May 2009 - Is currently pulling himself up on everything to a tall knell and his family is working with him on the transition to standing
June 2008- Said first words, "Mama, Buba and Da"
Information:
Is prone to infections but he now has a great immunologist on board
Experiences constipation but doesn't have to be on mediciation for it at this stage.
Asher is progressing really well with physiotherapy ever 2-4 weeks and his phsio is astounded at how quickly he is developing!
Asher has some arm and leg flapping, which he does when he is excited and happy. Also taps his legs for clapping.
He has quite severe eczema but it is now managed with a plan of DermaVeen and steroid creams
He also has a few allergies which he is growing out of except for egg, which he has an epipen for.
He is a very happy little boy who LOVES his food (he did have some feeding difficulty early on due to a tented upper lip and regressed chin, which has since move forward) and is now thriving and quite chubby!
He loves books, the swing, baths and music.
UPDATE: MAY 2009
Asher is very verbal and makes a lot of noises! He watches your mouth intently when speaking and will sometimes attempt to repeat words or syllables. He can say mum, dad, bub and nan.
Asher will shake his head and push away soemthing he doesn't want and says mmmmmmmmm when he is waiting in his high chair for food.
Asher attends a weekly early intervention play group at Newcastle Uni which he is settling into well.
He likes to scratch and feel different textures likes the walls, leather lounge, cane chair, etc. and also likes to mouth and chew.
Asher loves music and bounces and flaps his arms to dance when he hears it!
He was on oxygen at night but has since grown out of needing to use it anymore as his oxygen levels are no longer dropping to dangerous levels.
Asher doesn't like loud noises or speed bumps, they make him upset. He also hates the feel of playdough and netting.
Name: Cameron
Birth Date: 12/05/2007
Parents: Scott and Desiree
Siblings: Younger sibling due 3rd April 09
Other affected family members: n one, blood tests have confirmed mother is not a carrier, and the Duplications have occurred randomly.
Reside: Queensland, Australia
Diagnosed: Originally diagnosed with possibility of the male version of RETTS shortly after birth(from basic blood test).
25/02/2009 Further blood test results confirmed Duplication of MeCP2 and surrounding genes on Xq26-29 Which have attached themselves to Chromosome 3.
Milestones:
Currently working on core strength for sitting, will sit when placed unaided for half a minute before losing balance.
Started commando crawling at around 18 months
Babbles 'dadadadad' and 'ummmmm' sounds regularly, however does not understand what these mean or have any words.
Has just started moving hand towards PECS "eat" and "drink" cards to choose at meal times.
Starting to feed self small pieces of food eg; cut up banana and soft biscuits. Cannot use a fork or spoon.
Since being put on oxygen four months ago he has shown more determination and interest in the world around him.
Information:
Initial poor feeding after birth, nasogastric fed for two weeks
Low tone
Moderate to severe global developmental delay
Reflux - has reduced in severity in last six months
Chronic Constipation - takes Movicol Daily
Feeds with hands in mouth, no chew response; can only handle mashed food or food that dissolves easily but LOVES food.
Small mouth and high palate
Loves bath time, lights and books
Sensitive to loud or sudden noises.
Constantly sounds congested, Tonsils and adenoids removed Oct 2008, night time oxygen required.
High pain threshold
No protective reflexes
Teeth grinding
Has not had any chest infections or seizures.
Other symptoms which likely relate to the duplication of the other surrounding genes;
Weak, non-typical cry (more like a whine than a cry)
Does not cry with tears
Rarely smiles or laughs
Predominantly unhappy and grumpy
Still has startle reflex, startles easily
Does not make eye contact often
Does not appear to crave physical or social contact but doesn't like being alone.
Sensitive to cool temperatures
Wolf Parkinson White Syndrome (heart)
Severe growth delay (short stature)
Drooping eye lid on left side when tired
Child's Name: Craig
Birth Date: May 8, 1973
Parent's Names: Dave & Denise
Sibling's Name: Daniel
Reside: Berri South Australia
Diagnosed: Both Craig & Daniel were diagnosed May 2011
Milestones:
*Intellectual disability
*Epilepsy
*Autistic tendencies (spinning toy wheels, handkerchiefs, etc.)
*Bronchiectisis
*Prone to severe pneumonia
*Limited speech
Other information:
*Brother, Daniel, was born on February 2, 1975. He has similar issues except respiratory disease.
Name: Daniel
Birth Date: February 2, 1975
Parents: Denise & Dave
Siblings: Craig
Reside: Berri, South Australia
Diagnosed: Mid-2011
Milestones:
*Breech Birth, seizures within 24 hours of birth.
*Slow developing, diagnosed as "Intellectually Disabled."
*Did not walk until he was 3 years old.
*Unusual gait, but active.
*Diagnosed as Cerebral Palsy as a toddler and later as Epileptic.
*Unable to toliet train, still wear incontinence aids.
*Is now wheelchair bound and having "Vague-out" seizures.
Other Information:
*Craig, his brother, is also having more seizures including Grand Mal seizures, as many as eight in one day. His brother also requires a wheelchair when outside and assistance to walk inside. Both need 24 hour care.
Name: Elijah
Birth Date: 5/20/2006
Parents: Liam and Allison
Siblings: Asher Jet 9/27/07
Other affected family members: Asher Jet
Reside: Belmont, NSW, Australia
Diagnosed: Sadly was only diagnosed after he suddenly passed away in 2008 at the age of 21 months
Milestones:
He sat independently at around 17months
Just starting to crawl backwards at 20 months
He didn’t walk,but liked to stand supported
Was able to hold his own bottle and 'help' feed himself with a spoon and fork
Said his first word 'Wow' at 5 months but lost that word shortly after
Information:
Elijah had severe aggravated reflux as a baby (which he grew out of at around 12mths)
He had no suck reflex at birth resulting in a long stay in NICU and tube feeds of ebm and formula top ups
Several allergies to wheat, gluten, egg, nuts
Eczema
Constipation which became severe as he grew older
Would learn words and then lose them at around 2 weeks later, and then would relearn them- would keep mama, dad and nana though :)
Had some mild dysmorphic features
Elijah attended early intervention playgroup weekly
Elijah had weekly and then fortnightly physiotherapy sessions and was also in the process of attaining speech therapy and occupational therapy
Elijah also had some arm and leg flapping and other autistic 'traits' but never completely fitted the autistic mold as although he loved linear patterns he was very social, and chose to make eye contact with those that he wanted to:)
He also was a very happy boy, laughing lots:) He LOVED books, especially 'Where Is The Green Sheep' we read it several times a day and neither of us ever got sick of it!
Bubbles were his next favorite thing along with bath time!
Elijah loved his flat ted and flannel, and feeling textures, especially the screen door.
He also loved- food and pear, mango, banana and binkies were his favorites
Child’s Name: Kevin Anthony
Birth Date: September 29, 1979
Parent’s Names: David and Yvonne
Siblings: Aaron, Catherine, Teresa and Kirsty
Other Affected Family Members: Travis – Nephew
Reside: Berrigan NSW
Diagnosed: October 1, 2008
Milestones:
*Sitting – 12 months
*Crawling – 18 months
*Walking – 2 ½ years
*Feeding himself – 5 years
Other Information:
*Kevin used to twirl socks and tea towels when he was young.
*Loves his food and would eat heaps. Has cut back the last few years but still eats lots when put in front of him.
*Kevin suffers from drop seizures and absent seizures.
*He now goes in a wheelchair when going out shopping because of his seizures but walks around the house when at home.
*Kevin lives in a group home through the week and goes to a Sheltered Workshop in Deniliquin. He comes home on the weekends.
*He loves to watch cricket on TV and listen to music.
*He is prone to bladder infections but is otherwise healthy.
*Kevin is non-verbal but lets people know what he needs or wants.
Name: Travis
Birth Date: 7/14/2002
Parents: Greg and Teresa
Siblings: Monique (8 years old)
Other affected family members: Uncle (29 years old)
Reside: Thornton, NSW, Australia
Diagnosed: November 2008
Milestones:
Sat up 18 months
Crawled 24 months
Walked one week after his 4th birthday.
Information:
Travis is a very happy loving 6 year old
He smiles & laughs lots & loves being with others
He can be very stubborn when he doesn't want to do something, like we all can, haha
He loves watching television, playing with any papers especially junk mail
He loves music (not too loud) & lights
He could spend hours in the bath as he loves water
He loves his food & we mean all food he doesn't know when to stop
He loves any toys that spin or have wheels
He loves cuddles, tickles & a bit of rough housing
He is a very good sleeper, probably too good!!!
He really dislikes loud noises especially the garbage truck. It really distresses him.
He doesn't speak but he does have a few words that he rarely uses.
He says MORE when he should, when he wants more food, ha ha
He appears to have a very good understanding of almost everything we tell him.
We have been using basic signing with him, he can sometimes sign More & finished, we use PECS when we can.
He has a bit of hand flapping especially when he gets excited, kicks arms & legs when excited also.
He drools a fair bit.
He puts everything in his mouth, EVERYTHING, he has choked several times usually requiring an ambulance & a trip to the hospital.
Travis has spent a lot of time in & out of hospital with chest infections & Pneumonia. Travis has severe constipation.
He has suspected asthma & absent seizures.
We still feed him but working on using a fork/spoon, slow progress but progress never the less, he eats finger foods good, we avoid hard foods, e.g. Raw apple, carrot, chunky pieces of steak.
He is drinking from sippy style cups or from a straw.
We changed Travis to soy products to see if this made a difference on his coughing fits & flemmy buildup while drinking cows milk or having milk in his breakfast, this seemed to work for him, if he has cows milk as a one off he becomes very congested & gets a choking cough & very red in the face, he ends up needing to stay at home for a day sometimes 2 .
Travis has Hyptonia (low Muscle tone).
Travis' Uncle Kevin is 29 years old & has only just been diagnosed as well
Travis just started kindergarten this year (2008) he is in a support class in a regular school which he really loves
He gets the special transport bus to & from school for the last 6 months which he really enjoys
We have been told Travis has the smallest duplication yet to be recorded.