Tyler (California, USA)
Birth Date: July 19, 2007
Parent's Names: Tom and Amy
Siblings: PJ, Harold, Ashley, Christine
Other Affected Family Members: None
Date Diagnosed: May 2009
*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
*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