OTHERS

Jaxson’s Amazing Dyrk1a Syndrome Story

Rare Disease & Syndrome

Jennifer Carfora

Our life with Dyrk1a Syndrome

Hello everyone, my name is Jennifer! I am a mother of two boys, I am a military spouse, and I am an advocate for our youngest son, Jaxson, who has Dyrk1a Syndrome. Our little warrior had a difficult first six months of life, so hard that there were times we didn’t think he would make it. He was labeled “failure to thrive” because he couldn’t gain weight, couldn’t suck or swallow, and was severely jaundice. With feeding therapy and me tracking his daily feeds, he slowly started to gain the weight.

Dyrk1a Syndrome

At six months of age he was no longer “failure to thrive!” I knew our struggles weren’t over yet because he was severely developmentally delayed, he couldn’t roll or sit-up like most babies at his age. At eight months old we started physical therapy and saw a geneticist see if they could find anything that would explain his global delays. Microarray came back normal, but we decided to do the WGS genetic testing to be sure. Spring 2018 we received news that we had a diagnosis—what was causing all of Jaxson’s problems! He had what they called Dyrk1a Syndrome—we were, at the time, the 167th family diagnosed. I had so many mixed emotions—happy and sad—because now we have answers but our journey has only begun. He amazes us every day, he began crawling at 11 months, walking at 17 months, and now knows a couple sign languages to communicate. He is beating the odds, he is a fighter! He shows us every single day that he CAN.

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