I am a unicorn

Let me explain.

When I tell people the story of our family and our diagnosis, people don’t know what to say- they are astonished.

My mom is a carrier of our disease, “Congenital Muscular Dystrophy” which in it’s full, it just means a general muscle weakness, there is no specific type found yet.

My sister and brother, have milder versions of what I have. I am the one who is currently the most impacted.

It all presents itself differently amongst the four of us.

We don’t have any of the 49 types of the Muscular Dystrophies. We have been searching for a name to the disease since I was diagnosed with a muscle weakness, just not a specific type. It adds layers to it too when your siblings are in the mix of it as well.

We have done all the testing that one could possibly do. We are a mystery to my doctors, no one knows what to think of it and it is becoming seemingly more important that we find a name to it because I have progressively gotten weaker.

Our next steps, are something I am fairly hopeful of. I got accepted into the PEDS Undiagnosed Disease Network. This is a study where doctors have found and diagnosed people that have had mysterious conditions. Over the next 6-9 months, all of my medical records will be looked through and I will have to go get evaluated for a 5-6 day period. Doing all this, will hopefully uncover our mystery and be closer to finding a diagnosis and possibly a treatment.

At this point, the diagnosis name doesn’t really matter to me. It is more about the treatment and a cure. I am curious about or what the future holds for me.

But for now, we are a medical mystery, a diagnosis that might be named after us ( I hope not) or as people like to say—————-

I am a unicorn, I am rare and one of a kind.