A Rare Parent

Our Story

My thirteen year-old daughter, Talia, is smart, funny, talkative, and kind. Like most teens, she adores her older sister and alternately drives her crazy. She could teach most adults bucketfuls about empathy. She loves to read, ski, and bike. She’s amassing a library of movies to rival any film critic. Talia also has Down Syndrome. And a few years ago we also learned that she is dying from an extremely rare disease called CMT4J (Charcot Marie Tooth type 4J). It can look a lot like ALS. For years we struggled to know what first had made it so difficult for her to walk--doctors repeatedly reassured us it was “just” her Down Syndrome. Then at three, she got sick and became progressively weaker, losing those same motor milestones she had worked so hard to attain. For the next six years we would travel down a road of misdiagnosis, endless treatments and surgeries, until finally landing on a rare disease that affected approximately 30 people in the whole world and had no treatment or cure. 

Her diagnosis brought unbearable grief and heartache. After many days I was able to shed some of my despair and felt the incredible urge to try to do something to question and perhaps even reverse this death sentence we had been given. I researched and then gathered researchers, we formed a foundation—CureCMT4J—and started fundraising toward the development of a cure for my daughter and others with her disease. Our community exploded with love and support, creating hundreds of fundraisers and a viral video that David Muir of ABC World News Tonight aired THREE TIMES—all helping us to raise more than $1.3 million.

Now, three years later, after 12-18 hour days pushing the science and the researchers, we have a possible gene therapy treatment in hand, but have to wait for drug manufacturing, toxicology studies, FDA approval and so many other i’s and t’s to dot and cross. We stand in a very long line for a one-time treatment of gene therapy to be manufactured, to treat a very small number of patients. And while we wait, Talia’s disease marches on. She has gone from walking, to walker, to wheelchair. She has lost the use of her arms and now struggles to breathe. Flu nearly took her life last year, as she fought off respiratory failure in the ICU. Her doctors were astounded with how quickly she rebounded. She is a fighter for sure.

As we continue to push to try to reach a trial in time to save Talia and others with CMT4J, I work tirelessly to share our story and mission. Through writing and speaking, I hope to spread awareness of Talia’s ultra-rare disease and of the thousands of other rare diseases.

Unfortunately, our story is not rare. Patients and parents fighting rare diseases are often the only voice in a desperate effort to find and fund cures. If you’re a rare parent you know that we can all get there faster together. I’d love to hear from you—what’s your journey been like? What do you want to talk about? What can I shed some light on through writing? If you’re not a rare parent, you might just find that our journeys and stories are not all that different. Your trip to the ER, your 72 hours of staying awake worrying your child through a nasty virus is not unlike my own. We are sad, worried, brave, strong, defeated, frustrated, heartbroken together. We laugh, love and try to live as best we can.

LOVE + SCIENCE = HOPE

curecmt4j milestones