I got a newsletter in my email box yesterday that let me know that this special day was upon us. Wow. A day just for me and the other people who have to explain their medical status to friends, family, and medical providers such as the dentist. Wait, it isn’t for me? It’s for my disease? Since systemic sclerosis is an orphan disease that no one has heard about this day is set aside to introduce it to everyone. Isn’t that special! Ta-da! Everyone, please meet scleroderma!
What is a rare disease you ask? Well, that is a good question, isn’t it? Off to the internet I went to find the answer.
In a nutshell a rare disease is one that affects very few people. Most of these are genetic, or at least have a genetic component, but there are some others such as the autoimmune disease that I have that also fall into the category. According to the Rare Diseases Act of 2002 a rare disease is defined as one that affects less than 200,000 people in the United States. Since the Scleroderma Foundation estimates that 100,000 people in the US have systemic sclerosis it meets that criteria. Oh, I guess that’s why they sent me that information in the email.
I’ve been kind of thinking about what this means in practical terms. If I tell someone that I have scleroderma (thinking that I have a better chance that they might know something about it since the systemic sclerosis that I have is a subtype of scleroderma), they get a blank look on their face and say that they’ve never heard of it. The next thing that happens is understandable, and very human, but also unfortunate: they immediately assume that the illness isn’t very important since they never heard of it. The conversation moves right on to something more understandable.
My hairdresser told me a story last month that haunted me for days. Her step-daughter had a number of autoimmune conditions that included fibromyalgia, IBD, and something that affected her joints. She had extreme fatigue. She kept trying to talk to her father about what was happening to her, and how fearful she was, but he discouraged conversation as he thought she was “milking the situation for attention.” She died at Thanksgiving, and he is being eaten with remorse. What a mess. Her condition was mostly invisible to an outside viewer, and since he didn’t know anyone else with it, he incorrectly disregarded the impact it was having on her.
Depression and a feeling of isolation is a big issue with rare diseases. Most of them are chronic, they can be progressive, and there is no cure. Once the diagnosis is made the patient begins living an unpredictable life with an uncertain future. Without a strong support system it is hard to deal with this stuff on a day-to-day basis.
There are a lot of rare diseases, (this site has a database if you are interested), so no one can be expected to know a great deal about any one of them in particular. If you should encounter someone who has one, however, it would be nice to ask them some questions and then to really, really listen to their responses. What is it? How are they coping? And if this is a good friend or a family member, what can I do to help?
To all my peeps with chronic conditions (hey, lupus girls, I am talking to you!!), knitting friends and those of you afflicted happily with bibliophilia, I have one thing to say:
Happy Rare Disease Day everyone!