Riley -Dup15q Family Story

July 20, 2022

Richie and I met on a blind date when I was 17 years old.  We dated for 6 years before we got married and we immediately found ourselves pregnant with our now 21-year-old son, Jared.   I always knew I wanted at least 2 children but we just couldn’t seem to make it happen.  It came as quite a surprise when we found out that we were pregnant with Riley when Jared was turning 12!  At that time, they considered me to be at advanced maternal age so they recommended all kinds of tests but we didn’t schedule them.  My pregnancy was easy and predictable and Riley was born on December 22, 2006 through a scheduled C-section.  We were both out of the hospital the next night!

Riley Family Story 4 1I don’t have any life-altering stories to say about the first two months but I had already noticed that her ears were a little low set and that her nasal bridge was quite flat/wide.  I wondered why she didn’t look into my eyes when I fed her.  A photographer wondered why they couldn’t get her to smile at her 6-week pictures.  She wasn’t turning her head when she was on her belly.  I could tell that her muscle tone was low.  I remember saying some of these things to my family and friends and they always brushed me off and told me I was just being overly sensitive and looking for something to be wrong.  (I am a Pediatric Physical Therapist by trade.)  I stopped sharing these thoughts with them, even with my husband.  When I had her at her 3 months check-up I told the doctor that I thought Riley might be blind.  He was shocked.  Long story short, he did some kind of test right there in the office and excused himself to call Ophthalmology at Cincinnati Children’s Hospital.  They called me that night to schedule an appointment that very same week.  She was diagnosed with Esotropia (which explained why I thought one of her eyes was drifting inward-another one of those things I stopped sharing) and we found out that she was far-sighted.  She ended up getting the absolute cutest pair of glasses, which thankfully she wore without an issue right from the start!  Over the years, the Esotropia has become controlled by her glasses and it is only visible when she is really sick.   Looking back now, I remember feeling that a weight had been lifted off of my shoulder because surely, her limited vision was what was causing all of the ‘little things’ that were starting to add up to a probable developmental delay.

With the vision diagnosis in hand and the delays that I had been seeing, I enrolled Riley in Early Intervention where she started receiving OT, PT, and riley.baker e1658328320136SLP and assistance from an Intervention Specialist.  I also reached out to a friend/ex-colleague of mine who was an OT and she offered to see Riley at her home ‘to help her catch up’ now that she had her glasses, etc.  All this happened during Riley’s 3rd month.  At 5 months old, my friend the OT, and her husband who was a Multiple Disabilities Teacher, sat me down and said they were concerned that Riley was exhibiting abnormal neurological signs and they recommended we contact a neurologist.  Well, I didn’t have to because Riley had her first seizure just 2 weeks after that conversation and she was diagnosed with Infantile Spasms after a week in the hospital.  We were given ACTH and Keppra to treat the seizures and we were so lucky because Riley responded rather quickly to the combination.  And, because of the Infantile Spasms diagnosis, the hospital automatically recommended genetic testing to determine if there was an underlying genetic cause for the