We know the math:
In other words, nearly 1 in 10 of us have a rare disease.
The odds are very good that you know one of these people.
We observe Rare Disease Day to draw attention to the issues they have in common. There are activities across the U.S., throughout Europe, in Canada, in Australia, in China and elsewhere to focus attention and raise awareness of rare diseases as a public health issue.
The odds are also very good that you are already aware of these things, simply because you’re a reader of these blogs. This makes me wonder: what can I add to the discussion that hasn’t already been said? How can I help focus attention and raise awareness?
This year is NORD’s 30th anniversary as well as thirty years since the Orphan Drug Act was passed in 1983. This year also marks a personal milestone for me: I’ve worked for NORD for five years. In my role as IT Manager it’s been up to me to help NORD use technology as effectively as possible as we strive to accomplish our various goals and help as many people as we can.
I’ve learned a few things about how nonprofits can leverage technology and the Internet that I’ll be sharing with you in the coming weeks. My goal is to turn this little corner of the net into a place you can come and get your questions answered.
In grade school I was the kid who wanted to make magical things happen on a stage, as long as there was no one in the audience. I’m not surprised I ended up working with technology, staying “behind the scene”, helping others with far more talent to get their message out. For Rare Disease Day, we invite you to share your stories with us; this year, I’m sharing my own story.
For some people suffering from rare diseases, it can take as much as 15 years before doctors finally arrive at a correct diagnosis. I probably spent that much time looking for an explanation for symptoms that over time had become very debilitating. By the late ‘90s, I found myself increasingly unable to solve problems, remember things, and make decisions. As a software development project manager, those were essential skills that I had excelled at before and suddenly couldn’t seem to handle. Doctors prescribed a dozen different drugs but couldn’t settle on a diagnosis; employers thought I had “burned out”; my family thought I needed to motivate myself. By 2006 I was unable to work and had become desperate for an answer.
It was only then that doctors at Norwalk Hospital figured out that I had narcolepsy.
Just learning that I had something that could be named was a huge relief. I was glad to find out that my inability to function wasn’t simply a lack of motivation (I had started to mistrust myself by then) but I still had friends and family members who told me that they were also tired all the time, and I just needed to get to bed earlier.
I became able to control some of the symptoms with prescription medication that is only available thanks to NORD and thanks to a bipartisan Congress that passed the Orphan Drug Act. But going through the illness forced me to change many things in my life – some willingly, some not.
When I was able to start working again I looked for a much shorter commute and came across an ad from a small nonprofit in Danbury, Connecticut. I live in New Fairfield, which is just north of Danbury.
That’s how I ended up at NORD.
It turned out that NORD had been headquartered in New Fairfield until they moved to Danbury around 2003. So I missed out on what would have been the best commute since I was a teenager working in Tony’s Deli, across the street from my house in The Bronx.
When I learned what NORD did I realized that I had an opportunity to help other people like me. People who were going through exactly the same things I had been experiencing.
People with rare diseases have difficulty getting an accurate diagnosis.
They have limited treatment options.
Their physicians don’t have experience treating their illness, and those treatments that are available tend to be more expensive than the ones for common diseases.
They have trouble with insurance reimbursement issues.
Employers, insurance companies and government bureaucracies are not as helpful because they are unfamiliar with the issues around the disease.
They feel isolated, abandoned, “orphaned” by the healthcare system.
But they are not alone, as long as we continue to fight for them.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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