My ASH1L son - Canada
Updated: Sep 15
DIAGNOSIS OF AUTISM
Born in 2013, my son first showed red flags for autism since he was 6 months of age. He had stopped crawling at 6 months of age thereby delaying his motor skills. At age 2, he had no speech and also had stopped giving eye contact. At age 3, he was officially diagnosed with autism. Since then, he has been rigorously doing therapies like Speech, OT and Life Skills.
DISCOVERY OF ASH1L
After CMA report showed negative, we insisted on WES Trio. The reports were disclosed in November 2019 which showed ASH1L gene mutation in variant c.4902_4903del (p.Ser1635Cysfs*18) and is de novo, heterozygous and pathogenic. Additionally, he also has VUS in TSHZ3 (de novo) and TNR (missense).
STRENGTHS & CHALLENGES
My son has strong cognitive abilities with reading skills assessed as high school level. He is extremely found of human anatomy/system, planets, countries, dinosaurs and Animal Kingdom. He loves dogs and aspires to become a vet. He has a keen eye for electronic gadgets and can identify the OS by simply eyeing the system.
With all the strengths, he has few challenges which are similar to the manifestation of autism. His major problem is weak focus & attention. He can get distracted within a fraction of a second. His oral motor challenges are inability to chew food, often gagging; also, clarity of speech and pronunciation is poor. His fine and gross motor skills are not on par with his age kids. He struggles with sensory overload thereby constantly flapping his hands.
Nevertheless, we love him and cherish every moment with him. His smile melts my heart and I know he loves us unconditionally!