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 a-typical 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 just 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 we could see a specialist because “the range of normal was 9-18 months.” Well, at 18 months old, when he was barely talking and not walking or standing yet, I stormed in and demanded referrals to specialists to find out if something was “wrong.”
We started various genetic testing and seeing specialists at 20 months old (this was back in 2004). All genetic testing at that point came back negative, but his first MRI of the brain showed myelination issues and an under-developed cerebellum. The neurologists also documented things like hypotonia and cerebellar ataxia. He immediately began an early intervention program at 22 months. In addition to the therapies at this state program, he also started private physical therapy, occupational therapy, and speech therapy every week. We continued these therapies weekly for basically his entire life. When adolescence hit, we added in behavior therapy, music therapy, and massage therapy too. Needless to say, we were busy!
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 just 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 stillcan’t jump, climb, or gallop, and his balance and coordination are significantly impaired. He can’t stand on one foot for more than three seconds, and he does lose his balance and bumps into things frequently. He tends to “scissor” when he walks due to the ataxia, which is often worse when he gets up from a seated position or when he is fatigued. Growing up, he loved to play all sorts of adaptive sports (baseball being his #1 love). As an adult now, Matthew is more focused on his day program than playing sports. However, he still swims laps weekly for exercise and enjoys adaptive volleyball and basketball to continue working on his motor skills. He also loves to follow professional sports on his iPad and knows more sports facts and statistics than anyone else we know.
For the first 10 years of his life, Matthew’s primary challenges were his physical or motor limitations — both fine and gross motor and speech and language. His receptive language was always better than his expressive language. We know there is so much more in his brain than he can express, and unlocking the treasure of what he has inside has always been a goal! He is verbal, but his language and speech articulation are delayed. As he got older, we noticed more of the behavior issues, autistic traits, and cognitive limitations. BUT, he has a contagious personality that you can’t help but fall in love with! He is super friendly and loves to connect with people. He has learned to use his outgoing personality to his advantage!
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 where he participates in various classes and goes out into the community four days a week. One of the things he enjoys most in his week is working out at Lifetime Fitness. He loves engaging with the club members – they all know and love him!
Rather than explaining to people that Matthew has the MAPK8ip3 gene mutation, we explain his diagnoses in terms of how this genetic mutation impacts his functioning. We explain that Matthew has Autism, Intellectual Disability, Cerebellar Ataxia, Apraxia, and Abnormal Brain Iron Accumulation. He most likely will not be able to live independently and will require significant supports his entire life. Our dream for him is to find a supportive residential community for adults with intellectual disabilities so that he can live as independently as possible in community with others who all learn to navigate life together.
As far as the MAPK8IP3 gene mutation goes, we waited over 15 years to finally understand the cause for Matthew’s neurological disorders. After years of targeted genetic testing and everything coming back negative, we finally did total exome sequencing in 2017. Through this exome sequencing, the lab found the gene variant in Matthew’s genetic make-up, but at the time the gene was “uncharacterized,” meaning it hadn’t been studied in humans yet. It wasn’t until 2019 when an article called “De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies” was published in The American Journal of Human Genetics by a German scientist who studied the MAPK8IP3 gene further in humans (of which our son was one of 13 specimens in the study), that we were able to definitively say that Matthew’s 1-bp deletion in the MAPK8IP3 gene on chromosome 16p13 is the likely cause of his neurodevelopmental differences.