A rare condition is uncommon. Not a lot of people have it. Not a lot of people have even heard of it. And as a caregiver, you have to be super informed because even specialists haven't seen many cases. Thus I have learned every thing I can about congenital myotonic muscular dystrophy.
Imagine my dismay last week when I received a call from genetics letting me know the results of further testing on Josephine. She has not one, but at least two, rare conditions. And now I begin the task of learning everything I can about CDKL5, her most recent diagnosis. Yes, you read that right. My sweet girl has two rare genetic diseases.
She also has Gray Matter Heterotopia. This doesn't appear to be associated with either of the other two conditions. It is more likely to happen when other genes go awry though.
Each of the 3 conditions alone can cause physical and cognitive impairments along with other health issues. What does this mean for my girl? I don't know. There may not be anyone else out there with this combo, so I have no point of reference.
