Matthew’s Story
Hello all… We are a family of five and live in Colorado in the United States. We have been blessed with three beautiful children, our oldest of whom has the MAPK8IP3 gene mutation and is in his early 20’s.
Our journey with Matthew has been full of ups, downs, twists, and turns, and we never really know exactly what is in store next! After two decades of watching his slow but steady development, it is amazing to see the new skills he continues to gain all the time! He has taught us so much about hard work, determination, patience, and persistence! His personality is larger than life, and his charismatic charm is arguably one of his best qualities! He also has a witty sense of humor and will joke with everyone!
We didn’t really know anything was atypical with Matthew until he was about eight to ten months old. I was in a new mom’s group, and all the other babies were sitting up, crawling, pulling to a stand, starting to walk, etc. Matthew would just be a big happy “blob” sitting in his bouncy seat watching—totally content. He had no interest in trying to move, but he was happy, alert, and ate and slept well. The doctor told us we had to wait until 18 months before seeing a specialist because “the range of normal was 9–18 months.” At 18 months, when he was barely talking and not walking or standing, I demanded referrals to specialists to find out if something was wrong.
We started genetic testing and seeing specialists at 20 months old, back in 2004. All genetic testing came back negative, but his first brain MRI showed myelination issues and an underdeveloped cerebellum. Neurologists also documented hypotonia and cerebellar ataxia. He began an early intervention program at 22 months. Alongside those therapies, he started private physical, occupational, and speech therapy each week. We continued these therapies throughout his life. During adolescence, we added behavior therapy, music therapy, and massage therapy too. Needless to say, we were busy!
As an adult now, Matthew is happy, engaging, and focused on increasing his independence and adaptive behaviors. He attends a day program for adults with intellectual and developmental disabilities, participating in classes and community activities four days a week. One of his favorite weekly activities is working out at Lifetime Fitness, where the club members all know and love him.
Rather than explaining that Matthew has the MAPK8IP3 gene mutation, we describe how it affects his functioning. Matthew has autism, intellectual disability, cerebellar ataxia, apraxia, and abnormal brain iron accumulation. He will likely need significant support throughout his life. Our dream is to find a supportive residential community where he can live as independently as possible alongside others navigating life together.
We waited more than 15 years to understand the cause of Matthew’s neurological differences. After years of targeted genetic testing, total exome sequencing in 2017 identified a variant in the MAPK8IP3 gene, which was then uncharacterized in humans. In 2019, the publication “De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies” helped confirm that Matthew’s 1-bp deletion in MAPK8IP3 on chromosome 16p13 is likely the cause of his neurodevelopmental differences.
Matthew wore AFOs or SMOs from 20 months until he was about 20 years old, and he learned to walk with a four-legged walker. Today, he wears custom orthotics inside his shoes for arch support. He took his first independent steps a couple months after turning three. He didn’t run until he was about 12 years old, and even now it is awkward and different, but he can run fast, which we never thought he would be able to do. He still can’t jump, climb, or gallop, and his balance and coordination are significantly impaired.
Growing up, he loved adaptive sports, especially baseball. As an adult, Matthew focuses more on his day program, but still swims laps weekly and enjoys adaptive volleyball and basketball. He also loves following professional sports on his iPad and knows more sports facts and statistics than anyone we know.
For the first 10 years of his life, Matthew’s primary challenges were physical, motor, speech, and language limitations. His receptive language was always better than his expressive language. As he got older, we noticed more behavioral issues, autistic traits, and cognitive limitations. But he has a contagious personality, is very friendly, and loves connecting with people. He has learned to use his outgoing personality to his advantage!
