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 seizures.  Hence, how we found out about idic15 when she was just 6 months old.  Today, though it may sound strange to some, I am thankful that Riley had the type of seizure that she did because otherwise, I think it may have taken years to get to a definitive diagnosis and we would have lost all of that time with the dup15q group.  I cannot say enough how much the support that I received from people in the dup group meant to us!  I never could have done it without them!  We have met the most wonderful people through this group and the Conferences that we have attended have been instrumental to so many areas of Riley’s journey.

Riley Family Story 3Riley had a second type of seizure (myoclonic) when she was just about 2 years old so we stayed on the Keppra for 2 years after that and were weaned when she was just about 4.  Seizures returned in February 2016 (complex partial) when Riley was 9 years old so we went back on Keppra.  It was quite distressing to think that we had been seizure free since she was 2 years old but we were warned that it might happen so we weren’t completely shocked.  The seizures were under control by June but then returned with a vengeance in November and we are still adjusting Keppra levels and considering a switch to Lamictal.  I hate seizures, they scare me to death and they make me feel helpless.  I love the support that our families provide to each other during these times.  It makes it all so much more manageable!

In regard to the other developmental areas, she started walking with a reverse Kaye walker when she was 18 months old and began walking independently when she was 30 months old, just 2 weeks into her first session of Hippotherapy!  (Another fabulous support for Riley, which she continues still today!)  Riley was diagnosed with Autism at 3 ½. This was when it finally felt like we had a completed picture.

Jill Thomas Baker and daughter RileyToday, Riley is essentially non-verbal and she uses an AAC device to communicate wants, needs, likes.  She is still learning to use it for academics and conversation but this was another Godsend for us!  After all of these years, Riley is able to tell us what she wants and doesn’t want versus dragging us to it or pushing it away!  I am so thankful to the doctor who thought Riley would be successful with this.  It was a long process going through the training and the insurance process but it was totally worth it in the end.  We have recently started working with a doctor to find a medication to help with Riley’s apparent anxiety.  Currently, she is taking Tenex, Zoloft, and VitB6 and we have seen some improvements but I don’t think we have found the ‘sweet’ spot yet.  She is in the 4th grade at a local elementary school where she participates in multiple disability programs.  She has been with her current team since 3rd grade and will continue with them through 6th grade.  She has 7 other students in her class and 4 adults total.  We are happy with the programming that she gets and she enjoys going to school.

Riley is happiest when she is outside.  She loves to ride on golf carts and going for rides in the car.  Riley loves books and playing ball.  She loves to wrestle and jump and climb. She keeps me on my toes 24/7!  I wish we lived on a farm because this is another area where Riley really seems to be herself.  I absolutely love to see her happy…there is just something so real and honest about her happiness!

– Jill, mom to Riley

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