Rare Disease Day

On Rare Disease Day…for Nicholas

AUTHOR: | POSTED: 02/29/16 12:52 PM
CATEGORIES: Blog, PCD, Primary Ciliary Dyskinesia, Rare Disease Day

There was a time in my life that the word “rare” conjured thoughts of all things special and good. A “treasure” of some sort. All of that changed when Nicholas was born.

Almost exactly one year ago we got the call. Ironically, we were in the middle of a dinner party. A birthday party for a dear friend. Sean read a text message and informed me that Nicholas’ pulmonologist wanted to speak to us immediately.

Both of us–together.

We excused ourselves to our bedroom and dialed his number. My heart was beating out of my chest and although my mind was whirling with every possible scenario I already knew. The test results were back and there was “news” to report.

Nicholas has PCD.

Primary Ciliary Dyskinesia is a rare disease. An auto-recessive genetic monster that Sean and I carry. Apparently all of our children had a 25% chance of getting it. Unfortunately, Nicholas had pulled the genetic short straw.

PCD impacts the cilia in his body. Cilia are the small hairlike structures that are found in several parts of the human anatomy including our airways, ear canals and sinuses. PCD was the root cause of his respiratory distress after birth. At least we had an answer.

I’ve learned, however, that answers aren’t always that great especially when they include the diagnosis of a rare disease.

Living with a rare disease brings about a special set of challenges. PCD is so rare that there are no health insurance codes for it. You know those little numbers with “conditions” your doctor circles before he sends you off to check out of the office? Those are codes. They allow your doctor to tell your insurance company what you’ve been treated for.

When there are no codes for a disease health insurance gets complicated. For many, it turns every medication, every apparatus and every therapy into a fight. Many people with PCD spend a lot of their time trying to fight for the care they require to stay healthy…simply because there isn’t a code for their disease.

Rare diseases can also be lonely. Resources are scarce. There are no big foundations raising money for research. There are no “walks” or colorful ribbons pinned to lapels as a show of support. In a way, people with rare diseases often feel like they are collateral damage.

“No one is going to fight for me. I do all of the fighting myself.”

It is fitting that February 29th is considered Rare Disease Day. I’d like to think of it as a day when people like Nicholas can be reminded that they haven’t been forgotten. That their lives matter.

It’s a day to become aware of the fight so many face and to send them the love and support that they deserve.

Please join me in praying for all of those that suffer alone. That they might feel lifted in love and that they realize, most importantly, that their lives are precious.