DIAGNOSIS OF AUTISM
Wes was the second born twin, 11 weeks premature. Despite a lot of early intervention from the first week after discharge from the hospital and unlike his twin sister, Wes failed to meet milestones within their normal time frames.
At two years old, he would throw his head against the table top edge and have huge meltdowns frequently all day long. He had fine and gross motor challenges, sensory intolerances, speech and feeding difficulty. When he was 3 he was referred to the school district for transition from early intervention services. The primary evaluator asked me how long he had been perseverating on things that spin. I didn’t know this was an odd behavior and never paid any attention to it. A year later were finally able to see the autism specialist and received the formal diagnosis.
DISCOVERY OF ASH1L
Our family signed up for and submitted specimens for a huge study of people with Autism called Spark in 2017. In June of 2019 we were informed that Wes’ results showed ASH1L gene mutation. His variant is c.7603C>T p.Arg2535*, it is de novo, heterozygous and pathogenic. The rest of our family had no positive results.
STRENGTHS & CHALLENGES
Wes loves to hum and sing refrains of songs he likes. His ability to memorize lyrics, match tones, keys, and inflection are probably related to his echolalia, but are so impressive. Wes thrives in routine and concrete statements. His nickname is “the closer” because he is persistent to a fault. These things are also challenges along with ongoing sensory and focus issues. Wes’ “brain age” is all over the place based on skills, but generally lies at about 5-7. He is so averted to writing that he has not mastered any signs words with 100% accuracy and therefore does not read or write. He hates most arts and crafts, but has taken to tolerating clay recently. While he does have skills emerge here and there, we are seeing the gap between Wes and his peers continue to grow. Incontinence and constipation issues remain a significant challenge along with dependence for most other ADLs. Social challenges are some of the most difficult, my heart aches in the moments when I know that he knows he is different. Wes has no peers that you would call friends and poor relationships with neighborhood children his age. While he appears “normal” to the untrained eye, it doesn’t take much interaction to tease out his uniqueness.
My heart melts for the moments of calm and sweat loving hugs, and I cannot deny this child anything.