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No, It's Not Cancer -- It's a Rare Disease

My family did not have other families to talk with, or survivors to hear from. I couldn't explain the pains I was feeling to anyone who understood what I was talking about. At the time, there was only one doctor we found to consult with, and he had very limited knowledge on the subject.
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Happy Rare Disease Day everyone! Today is the rare occasion when rare diseases actually find a little attention. It is not lost on me that this year the date falls on the 29th of February. A rare date to acknolwedge the rarest of the rare in our society.

The Ice Bucket Challenge for ALS was an anomaly when it brought wide focus to a rare disease. Most rare diseases never find that type of publicity. This is a shame, because they really need wide support in order to improve outcomes which, for many, have stalled over the years.

Advancements in cancer treatment, thanks to solid funding, have skyrocketed. Cures are not rediliy available for every cancer yet, but there is a feeling of hope that they are on the horizion. We even have the vice president of the United States heading up a cancer initiative. While this is amazing for those suffering from many forms of cancer, the same type of enthusiasm is missing for those struggling with non cancer-related conditions. They need our help.

Rheumatoid Arthritis, Crohn's disease, and Guillain-Barre syndrome, which are some of the better known rare conditions, receive not even a fraction of the amount breast cancer does each year for funding research. Thus, those struggling with rare diseases may have poorer outcomes simply because they are rare. Patients with these conditions might get a little exposure in medical journals as something fascinating that most doctors will never see in practice. Yet, that does very little for advancing their treatment.

I am a member of the cancer community, but before cancer was ever on my radar, I was born with a rare condition called an arteriovenous malformation (AVM). One percent of the population is born with this condition. Therefore, very little understanding, funding, treatment and support was available to my family while I was growing up. Because rare seems to suit me, I was also a unique case in the AVM world. Usually there is one location of an AVM and that location is frequently the brain. My AVMs are in my neck and right torso.

My family did not have other families to talk with, or survivors to hear from. I couldn't explain the pains I was feeling to anyone who understood what I was talking about. At the time, there was only one doctor we found to consult with, and he had very limited knowledge on the subject.

I underwent surgeries early on that probably were not the best course of treatment for me. When you have a rare condition that very few doctors understand though, things like that will happen. It wasn't until I was 26 years old that I found an AVM specialist. By that time, it took 60 surgeries (twice a month over the course of five years) to bring the condition to a stable point.

My rare disease story has a relatively happy ending because although I had to battle every insurance company for every test, appointment, and surgery. I'm finally in a maintenance position rather than active treatment. It doesn't mean I no longer have an AVM, but the one in my neck is so small it's hardly noticeable, and the one in my torso is no longer eating away at my back muscle.

With the advent of social media there is a bit more discussion about AVMs now, but AVMs, just like their rare disease siblings, have never received the type of understanding and fundraising that cancer has. Money and exposure are the greatest reasons why.

Cancer touches every life, but individual rare diseases do not. It is so much easier to want to fight and fund cancer because someone we know has experienced it. We automatically empathize when we hear the word. The same is not true when someone states a condition we can't even pronouce.

When drug companies do not have large markets they can sell to, there is a smaller incentive to develop drugs to treat these conditions. Doctors choosing a specialty, very rarely choose such highly targeted populations.

This is not to say that every cancer is funded equally. Even in the cancer community not all cancers are well funded. There are many cancers that fall into the rare disease category. If only a few people are diagnosed each year, even though the title of cancer is theirs, the funding is not.

So what will it take to bring more attention to these very worthy causes looking for support?

Do we need to dump buckets of cold water over our heads? Or is there a better way?