[Happy?] Rare Disease Day. I used to not [celebrate?] this day. At first, I didn't know it existed. Then I did, but it didn't apply to me. Then it applied to me but I wasn't ready to participate. But now I am.
I'm not here to educate you about rare diseases. You can go to this site and learn all you could hope to know. In fact, I encourage you to visit it and just learn one thing today. It would be the perfect way to honor your pal Collin.
What I've come to realize is that the point of Rare Disease Day is to raise awareness and the point of raising awareness is to change the current state of things for those of us dealing with rare disease every day. Here are three concrete ways that happens:
1. Community building. There is nothing quite like the feeling of knowing you're not the only one. Before getting Collin's diagnosis and starting the process of connecting with people all over the world dealing with the same issue, I felt isolated not only within the parenting community, but also within the special needs parenting community. I had no one to go to and say What do you do when x, y, z? Or Is this a syndrome thing or something else?
I can't imagine what a difference it would have made in my experience as a mother to have been handed contact information for another parent at the same time we were handed the diagnosis. But the awareness just wasn't there at that time. Now, just a few short years later, it is and it's making a big difference to newly diagnosed families.
2. Financial help. Surprised? It's true. This happens mainly in the form of insurance coverage. Take the important example of exome sequencing. As rare disease awareness increases, insurance companies are slowly becoming more likely to pay for this very expensive test which is currently the only way to identify many rare diseases. I hate to think of all of the families who shelled out many thousands of dollars on this test before increased awareness changed insurance coverage.
But we still have a long way to go. Some new friends of mine can't get coverage for growth hormone for their son because he just received his Wiedemann-Steiner diagnosis. Idiopathic (unknown cause) short stature is covered, but WSS is so rare that it's not even on lists of known diseases, much less approved for particular treatments. Increased awareness could change that. Receiving a diagnosis should never limit your options financially.
3. Better care. Your medical and therapeutic care can only be so good when virtually nothing is known about the condition you're dealing with. Rare disease parents often find themselves filling in physicians at appointments rather than getting counsel. This is certainly not the fault of the physician, who can't be expected to know about every rare disease; but, at this time, there are very few good resources doctors can use to educate themselves.
As awareness improves, doctors and therapists will be able to share what has and hasn't worked and we will build a body of knowledge that will make the receiving of a rare diagnosis an empowering experience rather than a confusing and discouraging one.
[Happy?] Rare Disease Day, folks. Let's hope each one is happier for those dealing with rare diseases.