Even when we know things, we can still be in denial about them. Denial is a common thing for us all.
I knew from infancy that there was a decent chance Caleb would have Charcot-Marie-Tooth Disease (CMT) because it is a genetic condition his birth mother has and around half of his biological siblings also have it. I knew as he has aged that I was seeing signs of it. I knew when the Neurologist said that was what was going on that he had it.
I still held out a small window of hope. I still clung to the maybes. Our boy has been fighting to live and fighting to do things other children do with ease since he was born. I did not want to admit he had another hard, painful, lifelong fight ahead of him.
I did my research, I told people he most likely had CMT but in my heart I was still hoping for a miracle.
This week the hope had to leave. We received the result for the genetic testing we had done for Caleb.
Good News- Caleb does not have Fragile x Syndrome, another rare genetic condition that was being considered.
Hard News- Caleb definitely has CMT, specifically he has CMT Type 1A which is caused by a duplication in his PNP 22 gene.
Even though I knew logically this day was coming, hearing it officially was still a punch in the gut. It was still hard to process and wrap my mind around, and I am still working on it.
What does this diagnosis mean?
CMT is a degenerative neuropathy disorder that will impact Caleb’s hands, arms, feet, and legs. The peripheral nerves in those extremities will continue to die as he ages which will cause pain, clumsiness, muscle weakness, and atrophy.
So what now? Where do we go from here?
The good news is many of things we are already doing are exactly what he needs. He needs Physical Therapy and Occupational Therapy and will probably need them for the rest of his life. Equine Therapy will be a great thing for him as the disease progresses. He will need braces, at least, for his life and he will need wheelchairs for any lengthy walks. He will likely need pain medication and surgery at some point.
For more information on CMT you can visit
- Charcot-Marie-Tooth Association
- Charcot-Marie-Tooth Disease Type 1A
- Charcot-Marie-Tooth Disease Fact Sheet
- Charcot-Marie-Tooth Disease (CMT) Symptoms and Diagnosis
- Charcot-Marie-Tooth Disease