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Ryan’s Story
"Ryan was born in South Jersey on August 1, 2001 after an uneventful pregnancy and delivery..."
In the hospital, I already knew something wasn't quite right and asked everyone I saw why his head seemed so small. The doctor finally agreed with me and wrote him up for microcephaly as were we being discharged home. That is where it all began... After meeting with a neurosurgeon, neurologist, geneticist, and developmental pediatrician and undergoing test after test after test, some twice, the only thing that showed up was frontal lobe polymicrogyria (PMG) on his MRI. At the time we didn't know that this was itself a diagnosis, but thought it more a symptom of a genetic or metabolic syndrome.
More testing and no definitive results, along with some scary possibilities and prognoses, led us to focus on treating the cerebral palsy aspect of his defect instead of focusing on a cause. We spent the next few years with EI, outpatient PT, OT, and ST, and went to different doctors like Ortho and Physiatry.
He is known as a moderate spastic quad, which means that all 4 limbs have tight muscles and he is on the moderate end of the spectrum. After slow, but steady progress with therapy, a couple of surgeries, and Botox injections every 6 months, I once again wanted answers and began searching for a cause. That's when I found the Lissencephaly Network and heard of Dr Dobyns work with Liss and PMG. We attended the 2005 Liss Get-Together in Ft. Wayne IN and met with Drs Dobyns and Chang. After seeing his scans, they decided with a 95% certainty that Ryan's PMG was caused by the CMV virus. They said that his scans showed areas of calcification(a hallmark sign of CMV infection, apparently) and that his Gyri pattern was such that his brain was once larger and shrunk after being attacked by the virus. His scans then made their way to Dr Barkovich at UCSF who gave him the final diagnosis of Bilateral Frontal Parietal PMG. I had a hard time accepting that a virus did this to him, especially since I am a nurse, and it was devastating to think that I probably brought this into our home.
Today, Ryan is 8 years old. He is one the happiest children you will ever meet, with a huge smile for just about everyone he comes in contact with. He stands and walks with a gait trainer and dynamic stander. He sits for short periods by himself, and commando crawls everywhere (really fast too). He just learned to ride an adaptive tricycle by himself, though steering is an issue, and is beginning to learn to use a power wheelchair (but thinks crashing is more fun than steering properly).
He doesn't speak, but can sign a couple of words and is beginning to learn to use a more advanced augmentive communication device than his current GoTalk. His EEG is normal and he has never had a seizure(knock wood), but remains at high risk for developing them. He does not have a G-tube, he eats a pureed diet, and drinks well. He loves to have bits of real food like french fries, chips, and cheetos, and absolutely hates ice cream. He is healthy and takes only Miralax 3x/week for constipation.
He attends a special needs school 5 days/wk, continues with outpatient PT and ST, and has weekly hippotherapy(which he loves). It's been a long road and the road ahead is hopefully much longer still. Though we're sure to have many ups and downs along the way, our mission has always been to help him be the best Ryan he can be!
- Shared by his mother, Susan