Sunday, February 28, 2010

Celebrate Rare Disease Day

This was published in the Buffalo News (my local paper) at:

Below is my submitted article. They didn't change much, but I figured I would share both versions.

Honor Rare Disease Day; Someone you know may be

We are all around you, and you frequently don’t know it. We have appointments to see doctors with specialties you cannot pronounce, and have experience going for tests that no one wants to think about. We are the “winners” of life’s lottery in a way that no one would ever want to win. We are patients with a rare disease, and February 28th is our day to “celebrate”.

On the last day of the month, the world recognizes Rare Disease Day in honor of people living with rare, or orphan diseases. Patients with orphan diseases are not necessarily infectious or dangerous, we are merely alone. No ribbons, no support groups, and hardly a celebrity willing to lift a finger. So what qualifies as a rare disease? These are diseases that are considered to be life-threatening, or chronically debilitating. The disease I suffer with is a disease called Acromegaly. While most readers have never heard of this disease, its effects are very real to me and the people who love me. This is a disease without fame, but with dire, even fatal consequences if it goes untreated. The number of people diagnosed with Acromegaly are roughly 3 people per million. Not exactly cancer, so support is limited. Research is hard to fund, patient information is extremely limited, and emotional support for patients is virtually non-existent.

The problem for the medical companies is that research is not profitable when so few people may benefit from a new medication. I understand why this happens, but it doesn’t make treatment any more fun for the patients or their loved ones. Moreover, my insurance company is not thrilled that my medication costs $52,000 a year just for medication, and alternative prescriptions are actually more expensive.

The bigger problem for patients than the medical end is the emotional side of an orphan disease. I wasted a decade of my life telling doctors I did not feel well before I finally found the right doctor who diagnosed me. The reason it took so long is that the symptoms are severe, but cross over several areas of medical expertise. Since diagnosis, I have never met another Buffalonian with the disease, which can be very lonely, and nearly impossible to get advice from people traveling the same path. When I went online looking for information, all I could find out was stuff written for doctors, and the fact that it killed Andre the Giant. Now there is more support. I have actually made a lot of contacts and shared a great deal of information with my virtual friends on facebook and

Rare diseases can be extremely lonely and scary for family members too. As frustrating as it is to be a patient without support, at least we know what we are dealing with; our friends and family only know what we tell them. Family may be afraid to ask questions of the patient, and they rarely have someone who can sympathize when their family member does not feel well.

If you have a friend or family member who has a disease you have never heard of, be supportive. Just because you have never heard of it does not make the symptoms any less real for them. If someone you care about tells you they have been diagnosed with something rare, please try to learn about it. It shows you care. If they need help, even if it is just a sympathetic ear, be there for them. They probably don’t know anyone else that has the disease to talk with, and your warmth means the world. While we may not always remember to say thank you, we definitely feel it.

Celebrate World Rare Disease Day. Someone you care about probably is.

1 comment:

polarchip said...


All I can say is, you are truly an inspiration! All of us with acromegaly are so lucky to have you working on our behalf.

I had no idea such thing as Rare Disease Day existed before, but now I will mark it on my calendar!