Hope 4 G - 4C-ing a Future without CMT

Giada changed over the summer of 2021. She no longer wanted to ride her bike, play outside, or swim all day like in the past. She also began to complain about her legs, being tired, stomach pains and dizziness. As the wonderful mom that I am, I told her that maybe if she exercised more and ate better that she would not be so tired. Little did I know that there was so much more going on that we just could not see.

It was not until Giada went to the Zoo, in October 2021, with my neighbors that we really noticed that something just was not right. She could not keep up with her friends and looked absolutely exhausted. My neighbor, who happens to be a PT said, bring her to my office so I can take a look at her. Within a day or two we stopped by his shop and thats where everything changed.... We found out that Giada had no reflexes, an s-curve scoliosis, foot drop, and loss of sensation in her legs. We started on a roller coaster ride of doctor appointments, testing, and nerve-wracking thoughts. At the end of November Giada had an EMG performed and low and behold we are given a diagnosis, something called Charcot-Marie-Tooth (CMT). What the heck is that? Since her diagnosis, genetic testing was performed to conclude that she has CMT subtype 4C.

Giada has progressed but is learning to deal physically and emotionally (well as much as a 12-year-old girl can emotionally deal of course). She wears a brace for 17 hours a day to keep her scoliosis from getting worse and she goes to PT 3x a week for stretching and strength. We are adjusting to whatever is needed to make her feel better and comfortable. This condition, thank GOD, is not life threatening, just life altering. The unknown progression timeline and lack of research is what bothers us the most. We have joined the Natural History study at Chop and have amazing doctors and therapists working with us.

I am determined to make sure that Giada lives her best life. This is not a crutch for her to lean on, but just an obstacle for her to tackle. I refuse to let her fall victim to this disease; I will continue to work with her spirit. She is a tough cookie; she is my daughter! She will continue to need support and to adjust physically and mentally to all these changes.

She will always have me on her side, can she count on you too?