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Patrick Cartmell_edited.jpg


Patrick was born on September 15th 2017.
He was breached and born via c-section, but was completely healthy. He is our only child so we didn't have another baby to compare his development to in order to notice that something was different about Patrick. He had his first seizure when he was six months old and it was like he unlearned everything overnight. He was no longer using a utensil to eat, he couldn't eat solid foods, he couldn't sit up on his own. After many obstacles we were able to find a pediatric neurologist who pushed for an MRI of his brain. Through further testing we found out he has macrocephaly, hypotonia, GDD, and white matter atrophy. At the time Patrick was a year old and just starting to crawl, he had a second febrile seizure, which delayed him further. Our family already has a genetic disease so his therapists and neurologists pushed for a genetic test, which revealed he had a chromosome deletion in his WAC gene. He didn't even have what we do!
We had reports in June 2019 but Patrick was officially diagnosed with DESSH on August 26th 2019.
Patrick uses AFO orthotics and started walking, just shy of his 2nd birthday! He is currently in physical therapy and speech therapy. He is small but definitely mighty!

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