MY VIEW

Be supportive of people living with rare disease

On the last day of February, 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.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 today is our day to “celebrate.”

So what qualifies as a rare disease? These are diseases that are considered to be life-threatening or chronically debilitating. I suffer with 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. Roughly three people per million are diagnosed with Acromegaly. 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, 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 one who diagnosed me. The reason it took so long is that the symptoms are severe, but cross over several areas of medical expertise.

Since my diagnosis, I have never met another Buffalonian with the disease, which can be very lonely. It is nearly impossible to get advice from people traveling the same path. When I went online looking for information, all I could find was stuff written for doctors, and the fact that Acromegaly killed Andre the Giant. Now there is more support. I have made a lot of contacts and shared a great deal of information with my virtual friends on Facebook and AcromegalyCommunity.com.

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, 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. If someone you care about tells you he has been diagnosed with something rare, please try to learn about it. It shows you care. If he needs help, even if it is just a sympathetic ear, be there for him. He probably doesn’t know anyone else who 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.