Rare Disease Day 2016 


What is it like to live with a rare disease? This is what my daughter says:

“Doctors try to help but no one does.”

“I don’t know why I have ataxia and I don’t know why I can’t hear no more. No body does.”

“I have to go to the doctor a lot. That’s boring.”

“Everybody wants to poke me and give me a blood shot (blood draw)!”

“I used to be able to walk and not have to use a walker all the time but now I can’t and nobody know’s why.”

“Why is there no medicine to make me feel better?”

As her mom, I struggle to answer her questions. But what can I say? She is now 20 and has lived with an undiagnosed mystery disease her entire life. The closest label her illness has is Mitochondrial Disease. But which one? What type? How degenerative is it? How long does she have?

We don’t know.

My daughter turned 20, which wasn’t supposed to happen.

This week was my daughter’s 20th birthday, which when you’re battling Mitochondrial Disease, is a birthday hard won. My daughter, who I call Queen Teen (but can I still call her that if she’s not a teen anymore?), is a beautiful, friendly, stubborn young woman who has fought every single day to keep walking and keep learning. Despite being doubly impacted with blindness and deafness she has learned to read words and understand sign language. Doctors told us she wouldn’t make it to her teens. When she did she was diagnosed with “Mito” and given five more years to live. That was three years ago.

Right now, my daughter is singing “Let’s go fly a kite” and “Take me out to the Ball Game” at the top of her lungs. It’s horribly off key, but I love every note. I don’t know how long we will have together. Two years? Ten? You stop worrying about it after a while and learn to live in the present. “Be here now” is more than just a philosophy when your child has a life threatening illness, it is the golden rule to live by.

20. Who will she become now that she is grown? What will she want to do? I love watching and learning more about her.