Early last Spring was a bleak time. The day of our long awaited Neurologist visit came and I wasn’t too excited. Honestly, not knowing what to expect, I kind of imagined it would be more of the same old stuff. You know?
Have you traveled this road, too?
We’ve been shuffled to more doctors than I can remember and most of them had no idea how to help my son. At the beginning his pediatrician told me he would outgrow everything. One teacher told me he would be caught up to his peers by high school.
He struggled with muscle tone – lightly floppy up top and slight tight in his legs. He struggled holding a spoon. He struggled forming words. He walked on his tip toes. He flapped his hands. He was non – verbal. Then he was verbal. As the years went on his abilities fell further and further behind his peers. He would gain some ground and lose some in another place.
He was given labels early on like global delays, cerebral palsy, autism, developmental delay, PDD-NOS, apraxia, dysarthria, intellectual delay and on and on it went.
That was until last April.
I walked into the neurologist’s office that morning one person, and left transformed. Our son was diagnosed with potential severe neuropathy. Unrelated to his prior genetic diagnosis, or his cerebral palsy (which was at that time withdrawn from his diagnosis list). He couldn’t feel his toes, part of his legs, and possibly his fingers.
As the news sank in, I became cold as ice. I felt dark clouds gather and I just didn’t know what was going to come next. Sitting in my chair, across from my smiling, happy go lucky, sixteen year old boy, I couldn’t understand this news. I didn’t comprehend how he just couldn’t feel his toes and nobody knew.
No doctor had talked to me about this. No therapist figured it out. Memories plagued me. I had asked his geneticist why his toes were cold all the time. I mentioned it to his physical therapist. His coloring was off. No answers. No ideas. Everything was “normal” for the boy with the non-diagnosis. My heart sunk as a mother. How did we miss this?
I’m certain that the Lord blessed that meeting on that cold day in April with our new neurologist who immediately sensed what we all had missed.
The first thing that popped into my mind was treatments. Maybe this was good news, right? We can help him now that we know what we are fighting.
She shook her head. I don’t believe this is treatable, in fact I think this is genetic. Again, I couldn’t believe it. Could we have missed this on Whole Exome testing? How? Why? The doctor thought we might be dealing with one of the many in the Charcot – Marie- Toothe family of disorders.
As we left that day we were left with the news that he would need an MRI of his brain and spine and also a nerve conduction test along with an EMG.
It was a hopeless situation but I secretly held on to hope. I guess I’m just a rebel like that. I know that the doctors know what they know — but I’m a child of the King. He does the impossible — the extraordinary every single day.