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.