Rare Disease Day - 28 Feb

"A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time." - http://www.rarediseaseday.org/article/what-is-a-rare-disease

Earlier this week I received an email saying 28 Feb was rare disease day. I didn't think much about it until today.

Elise has had a dry cough this entire week. I think it's just a scratchy throat from a sinus infection. She isn't running a fever but the cough hasn't gotten better, and last night it kept her awake most of the night. I decided to keep Elise at home today. mostly so she could sleep (she finally fell soundly asleep around 5:15 am).

[It's kinda ironic, but despite Elise's CGD she has had very few actual sick days from school. Maybe as few as one each year. The vast majority of her days missing school have been medical appointments at UCLA or NIH. Even when she's has a severe colitis flare up she hasn't missed school. She even went to a 5-day camp during one colitis flare. She's a tough little girl.]

In any case, today was a good day to keep her home: she slept until 10:45 am which is about 4 hours later than she ever sleeps.

I decided to make an appointment to see a primary care physician. Her physician since birth retired recently and so we are trying someone new and it struck me then what it means to have a rare disease. I had to prepare an updated list of medicines she's currently taking or recently taken (6 pages). I needed to print out a list of medical contacts - 2 pages of specialists she's seeing. And the kicker: I have to print out a description of CGD from medline so that the Dr. understands what CGD actually is. It's not their fault, a doctor could practice an entire career and never encounter it. But it's just a sample of what it can mean to have a rare disease even for seemingly routine appointments.

All variants of CGD combine affect about 1 in 200,000 people (there are 4 main types of genetic anomalies that cause CGD). The type that Elise has affects something like 1 in 1,000,000 people. So there are about 300 people in the US who have the same type of CGD as Elise. I'd call that "rare".