When I learned that Julianna had CMT, I was relieved. She was eighteen months old at the time, and not walking. The neurologist in me had a short list of things that could be causing her motor delay, and CMT was the least scary. CMT was the disease with a funny sounding name that caused funny looking feet. It caused clumsiness and difficulty walking, but that was it. Genetic testing could not tell us what type of CMT she had, but because her symptoms showed up at such a young age, I knew that Julianna’s CMT would be more severe than average. I had never heard of a fatal case of CMT though, not even close. Maybe she would never walk, but we would work to help Julianna have the fullest, most independent and beautiful life possible. 

And she did. And,I was so wrong. 

In her almost six years with us, Julianna was a daughter, sister, author,  mermaid, and all manner of princess (with a room to match). She was a little girl who gave me glimpses of what she would have been like as a teenager. She was warm, opinionated, brave, joyful, vulnerable, wise and so very funny. She was exceptional. 

Julianna’s CMT was not just a funny sounding disease that made it hard to walk. For Julianna, it was “stupid CMT”. It took away her ability to walk, then sit, eat, and even breathe.  It made her endure many hospitalizations with their pokes, prods, needles and tubes. At age four, she knew where things were going, and more importantly, where she was going. “No more hospital,” she told us. And we listened, because we knew that her wisdom was other-worldly. 

Six years after she died, we learned that Julianna’s CMT was caused by an ITPR3 mutation. Now, “stupid CMT” has another name: CMT1J. And it has more faces, over thirty so far, each with their own stories. 

I think that Julianna would have been delighted to know that she wasn’t alone, but distressed to see others affected by the many losses that this type of CMT brings.  I know that she would have wanted to do something about it, even if she didn’t quite know how, or what, or how long it will take. 

This is how we start.