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Billy's Story 

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Born: 2020 / Age: 3

Country: United States 

Journey to diagnosis

When the doctor showed me Billy for the first time, my four pound baby looked around with his big blue eyes as if to say: “I’m not supposed to be here yet! What happened?” He was right. At 36 weeks I was diagnosed with severe preeclampsia.  After trying to induce labor for twelve hours, Billy’s heart rate started to drop and the doctor had to perform an emergency C-Section. Billy was in NICU for six days before we were finally able to bring him home. 

GET TO KNOW BILLY

Billy’s favorite activity: 

Billy loves turning things on and off and exploring certain remotes. I tease that maybe he will be an electrical engineer like his father. In the meantime, we are enjoying our time as a family.  

While Billy was an easy baby, he had trouble eating and reaching his milestones. Furthermore Billy was barely on the scale for weight and height. When Billy still wasn’t sitting up on his own at nine months, his pediatrician diagnosed Billy as having global delays.

      

As time went on, more specialists were recommended to help Billy with speech, occupational therapy and physical therapy. I was extremely worried about my son. What was causing his delays? Neither I nor my husband, John, had such delays and Billy’s cousins were fine. Was it due to the preeclampsia? If so, could I have done something to prevent it? 

 

When Billy was eighteen months old, we finally discovered what was causing Billy’s issues. His neurologist did a genetic test and discovered that Billy has a CUL3 mutation. Furthermore we discovered that my husband, John, also has the mutation. It was a relief that we finally knew what was wrong with Billy and that there was nothing either of us could have done differently. 

 

After learning that the CUL3 mutation can cause autism, I looked for a doctor to give Billy the ADOS test to see if Billy was on the spectrum. In New Jersey, it isn’t common for any doctor to diagnose a child under three with autism. However, as a special education teacher, I knew that the earlier a child gets treatment for autism, the better the outcome.

 

I finally had to hire a child psychologist to perform the test. Needless to say, Billy was diagnosed as ‘on the spectrum,’ which meant insurance would pay for part of his treatment. We then enrolled Billy in an Applied Behaviorist Analysis program and a speech program.

 

Current challenges

Billy has overcome much but we still have some issues we are dealing with, such as his growth and his high pulse rate.

 

Reflections & hopes for the future

 

Last march, Billy’s developmental pediatrician warned us that Billy’s cognitive ability may not go past a second grade level. However, she completely changed her mind after seeing Billy again a few months ago.

 

Thanks to ABA, and speech, Billy has a fifty word vocabulary, is using a fork and spoon correctly, and can run. If we keep giving Billy the treatment he needs, his doctor thinks he will be fine. 

Last updated 2023

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