Wanting to walk, talk and smile

A promising research study offers hope to families of children with a rare syndrome, but it is going to be expensive

Story by Christina Hughes Babb | Photos by Danny Fulgencio

When Amy and Jason Moore left the hospital with their son, Wyatt, everything was, according to medical professionals, normal. But as Wyatt’s parents anticipated the usual baby milestones — rolling over, sitting up, walking — which never happened, they knew something was wrong, Jason says.

Doctors ran a battery of tests, which came back normal. Genetic screenings and more screenings turned up nothing, until the last one, which revealed that Wyatt had a rare form of Down Syndrome called MECP2 Du- plication Syndrome, a crippling neurological disorder that occurs almost exclusively in boys.

The syndrome is so rare that it wasn’t until 2005 that doctors had a test for it. The Moores, who also have a 7-year-old named Max, were at first “sad, then shocked and then puzzled,” Jason says. Hypotonia (low muscle tone), developmental delay, mental retardation, limited or absent speech, spasticity, involuntary movements of hands, teeth grinding, recurrent respiratory infec- tions and epilepsy are some of the symptoms MECP2 patients endure. But today, dealing with Wyatt’s condition is routine.

“We are not bummed out every day. We do what we need to do and Wyatt is Wyatt,” he says.

The blue-eyed child can’t smile, he has never spoken and he has lost the ability to walk, but he does have a special bike that he rides with the help of his mom and dad. He likes to swing and be outdoors; they can read his moods.

“He swings his arms when he is happy, and he lets us know when he needs something,” Jason says.