Rare Disease Day

Tomorrow, February 28, is Rare Disease Day.

I first became aware that Rare Disease Day even existed a couple of years ago when a friend posted something about her son's rare genetic disorder in honor of RDD on facebook.

A disease (or disorder) is defined as rare in the US when it affects fewer than 200,000 Americans at any given time.

Rare disorders have affected two members of our family.

At one time, we thought our daughter, Melissa (pictured above), had a combination of Fetal Alcohol Syndrome and a rare genetic disorder known as Cornelia de Lange Syndrome.  The second of those two diagnoses has come into question, mostly because she's doing EXTREMELY well - better than most children with CdLS.  Missy's geneticist really isn't certain what her actual diagnosis is.  She has some characteristics of Fetal Alcohol, and some characteristics that don't quite fit with just that diagnosis. So... she's sort of a mystery.

Elliana's diagnosis was certain.  Tetrasomy 9p.

So how rare is 'rare'?

• There are about 400,000 Americans currently living with Downs Syndrome.  (www.ndss.org)
• The exact incidence is unknown, but between 10,000 and 30,000 people currently have CdLS (en.wikipedia.org).
• The number of known cases of Tetrasomy 9p:  about 50.  Ever.  (www.rarechromo.org)  I don't think any of those 50 are currently living.  That's 50 reported cases in all of Tetrasomy 9p's medical history.
• Tetrasomy 9p is rare enough that my spellcheck doesn't even recognize the word 'tetrasomy'.

The main purpose of Rare Disease Day is to raise awareness about rare diseases/disorders.

Where Missy is concerned, I'm not real sure exactly what we'd be raising awareness about because her diagnosis isn't certain.  I guess we could try to raise awareness about the need for more genetic testing, so that we can have a diagnosis.  But to be honest, it really doesn't matter what her diagnosis is.  Missy is happy, healthy, growing (however slowly it might be), and she raises awareness about herself every single day.  :-)

And I don't know that I care all that much about raising awareness about Tetrasomy 9p.  I think I care more about wanting people to know about Elliana.  I wish I could articulate why I want people to know about her.  I wish I knew what the purpose of her life was.  Is.  But I don't.  I know that her life does have a purpose.  God created her with a purpose.  And that purpose is being fulfilled right now.  

There are big events being held all over the country tomorrow.  Small events, too.  I'd like for Jason, the kids, and me to do something tomorrow to sort of honor the rare disorders represented in our family. But I have no idea what to do.  

Actually, I do have an idea.  But I'll have to write about that later...