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Feb. 12, 2019

TOPIC: Featured News, Patients & Members, Advocacy, Patient Stories, Get Involved, Rare Disease Day

McCarthy Story in Honor of Rare Disease Day

Posted by Lisa Sencen

The following story was submitted by Lindsey McCarthy in honor of Rare Disease Day. In this story, Lindsey shares her family’s journey of receiving a diagnosis for their son, James, of a CNTNAP1 mutation. Read on to learn how the McCarthy’s have worked to find other families who are affected by this particular gene mutation and how Lindsey grew inspired to offer the same type of support for others who are affected.

Share your story for Rare Disease Day here.

My son, James, was born with an ultra-rare genetic disorder of the CNTAP1 gene at our local hospital but was quickly transferred to a children’s hospital about thirty minutes away. At the time, we didn’t know what was wrong with him, or why he couldn’t breathe on his own. We found out his diagnosis on Valentine’s Day, 2018, a little over a month after he was born and two weeks from being discharged from the NICU. He recently turned one and has outlived the life expectancy of children born with this disorder.

Because of this genetic mutation, James’ brain has a hard time communicating with his muscles. His vocal cords are paralyzed, he has very low muscle tone, eats through a gastronomy tube and breathes through a tracheostomy tube in his neck. He has physical therapy, occupational therapy and feeding therapy weekly, along with doctor’s and specialists’ appointments. I quit my job as a 4th-grade teacher so that I can be there to support and learn about my son as much as possible. Little by little, we see some improvements in his abilities, but other days are more of a struggle. He recently started smiling for the first time and is able to move his arms and legs at times, and his doctors and therapists are excited to see growth in his abilities. Although the growth is small, we choose to celebrate every “inch-stone” we can. Most of our doctors are very supportive of our journey and are very intrigued by James because this is the first child that any of them have met with the CNTNAP1 mutation. In fact, our doctors didn’t know anything about the CNTNAP1 mutation until meeting James. We teach them what we know, and they continue to learn from my son.

Unfortunately, we don’t know much about what James’ future looks like. We are currently working with a researcher out of Boston Children’s Hospital who has already started the process of finding a cure through gene therapy. The oldest child that I have found in my research with this disorder is 12 years old. I’m hoping that with research we can find a cure for my son, and the other children with this horrible genetic mutation. Until then, we will continue with James’ therapies daily and celebrate each day that we have with him and continue to support him with each inch-stone he continues to make.

Rare Disease Day is important to my family because it is important for people to be aware of rare diseases. My husband and I didn’t know that we were both recessive carriers of this genetic mutation until our beautiful son was born. Now that we know, we’d like to find other families who have this rare disorder so that we can support each other. Having a baby, or a child, with such a debilitating disorder, is challenging but having support from people who are also going through it has helped my family tremendously. We have learned so much from the four other families that I have found. I hope to offer the same support to other families I know are out there.