Anthony’s Story

By: Jessica, Parent of Anthony, a 3 year old with a KMT2C genetic change

I’ll share my son’s journey so you have some background leading up to his autism diagnosis and genetic findings. My boy turned 3 in December 2021. He was a preemie and had a slower beginning than most but I knew very early he was different and had started making a mental checklist. I discussed milestones not being met and development concerns regularly with his pediatrician. She suggested and put in a referral to infants and toddlers before his first birthday but I was still hoping he’d make a miraculous catch up any day.

By 16 months I knew I needed to get on board so I arranged an evaluation through infants and toddlers (early intervention services through the public school for kids under 3). They did determine he needed services for developmental delays and occupational therapy for feeding issues and started weekly service in home. After discussing the results with his pediatrician we decided to have him evaluated at Kennedy Krieger Center for Autism. The waiting list was long but he was seen around his 2nd birthday.

They diagnosed him with ASD, global developmental delays, hypotonia, expressive and receptive language disorder, sensory processing disorder, gait abnormality and fine motor delays. We were instructed to continue early intervention and given a referral to start ABA therapy along with a slew of neurological, genetics, sleep, feeding, audiology and patient referrals for testing and care. We started in home ABA therapy 5 days a week for a few hours a day which I monitored very closely by staying in the room or video monitoring from any other room in our home.

On his 3rd birthday we got the results from KKI’s neurogenetics team that they had a positive finding in his exome sequencing which was the second round of genetic testing done after the initial broader testing came back clear. This was completely unexpected by all. He has a DNA variant called KMT2C (one of the letters that make up his DNA is wrong- should be a C but it’s a T). Autism is a feature of this disorder along with quite a few other things.

I had opted to extend his in home services (IFSP) because we were seeing great progress with ABA therapy and I didn’t want to jeopardize a good thing. But, changes occurred with staffing and keeping a consistent RBA about the same time the schools were going back to in person learning, so I decided to request an IEP meeting to get him into an Early Learning 3/4’s program/class I had been made aware of and was familiarizing myself with. His IEP meeting was this past April 20th and he was accepted into the program located at an elementary school within our district but not his zoned school. He is currently in his 3rd week of class and goes for 3 hours, 4 days a week. He even rides the bus home!

He was accepted into the special education ESY program (extended school year) for summer and absolutely loves these new experiences. We still do in home ABA therapy 2 hours 3 days a week and 4 hours 1 day a week. He has an upcoming apt with a particular neurogenetics KKI doctor that has interest/experience with his genetic variation. We continue to see his developmental pediatrician every 6 months aside from our regular pediatrician.