River's Story

River Nichols was born at 5lbs 13oz via c-section due to being breached. From the moment I was pregnant and never felt him move in my womb, we all knew he was either going to be a very calm baby or something was a little different.

When he was born we instantly fell in love. We were in the hospital for 9 days due to a short time in NICU because he wasn’t latching and had jaundice. I remember the nurses saying he had low muscle tone but not knowing what that meant at the time.

Fast forward three months later River had his first surgery for a genial hernia. This was the first time the doctor also mentioned concern for his physical development. After surgery they put us in touch with a geneticist.

River was always the perfect baby. Being our first, we weren’t always sure what was and wasn’t normal development. At 4 months we started the journey to find a cause for his very low muscle tone. This is also when we started Physical, occupational, and developmental therapy.

Soon we coined the phrase, Mighty River. River is a little fighter and pushes hard through his therapies. Every developmental “inch stone” he makes is always one to be celebrated! River continues to progress through therapy even though it is very tough for him at times. While he is fighting hard in therapy, my husband and I are fighting hard with the doctors to find a cause.

We were matched up with an amazing neurologist and geneticist at Peyton Manning hospital in Indianapolis. Together those doctors helped us with genetic testing. Finally with insurance approval we were able to do whole exonerated sequencing testing.

Shortly before the WES testing results came in, River suffered a major seizure. His seizure lasted almost 2 hours and he was taken to the PICU at Peyton Manning.

We knew it was a possibility of seizure due to his MRI months previous that showed under developed myelin sheath and nodules on the brain. I remember sitting in the PICU and his neurologist saying it had to be a genetic reason for all of this. She explained his brain was exactly the same on both sides, it was created that way. The nodules were in the same place on both sides, everything indicated a genetic cause.

One month after his major seizure the WES testing results came in. When the geneticist said they found something, I couldn’t breathe. I knew our world was about to change and all I could think of was my sweet baby River. The words ZTTK syndrome just rolled off the geneticist tongue as if it were any other word. She paused to make sure I understood. I had her repeat it over and over as my husband and I asked a million questions.

Shortly after finding River’s diagnosis, we met with his doctors and therapists and made a plan. Our Mighty River continues to do things physically and mentally that surprise us every day. With the help of medicine he has only had one more seizure since his major one.

We continue to fight for his medical and educational care every day.