Think –and dress–zebra today

Today is Rare Disease Day. Wear zebra if you have it. If you don’t, then find some.

Do more than wear zebra.

Why zebra? Because doctors are trained to look for horses not zebras when they hear hoofbeats. By that they mean that symptoms are more likely to indicate a common disease rather than a relatively rare one. Most of the time, a bloody nose is just a bloody nose and a cough is more likely from a cold.

Why Rare Disease Day matters

But a cough can be cystic fibrosis. A bloody nose can be a brain tumor. And persistent belly pain and diarrhea can be NET cancer. As the Carcinoid Cancer Foundation puts it, “You can’t detect what you don’t suspect.”

Their efforts often seem puny…

 

Today, we want everyone to remember that sometimes hoofbeats don’t mean horses–they don’t mean round up the usual suspects. They mean, “I’m a zebra–and I am here to kill you.”

The problem with being a zebra

I watched my wife be kicked to death by one such zebra. By the time we figured it out she had just four months left to live. But she had been fighting that zebra for 30 years while her doctors kept looking for horses. Unfortunately, her zebra was one most had never heard of. We are working to change that.

Fox’s kind of celebrity activism is relatively rare.

But even when there is great awareness of a particular rare disease there is often too little doctors can do to help the patient beyond putting a true name on what they have. Research into rare diseases is rarely well-funded. Drug companies are not much interested in funding diseases they can’t make a profit on. Governments are pressured into funding the big name diseases by their constituencies. Let’s face it: there are more votes in breast cancer, lung cancer, and prostate cancer than there are in NET cancer, neurofibromatosis, and Morsier Syndrome.

Rare diseases and cost-benefit analysis

We hear terms like cost-benefit analysis all the time. They are used to explain why we fund research for this disease but not for that one. But when you have a loved one who is a victim of that line of thinking the idea does not provide any measure of solace.

We hear terms like cost-benefit analysis all the time.

 

Despite the fact I would not wish any of these rare diseases on anyone, I sometimes secretly wish someone famous would find themselves or their families facing a particular disease too many other families are facing. I look at what Michael J. Fox has done for Parkinson’s Disease sometimes with a sick kind of envy.

Rare disease activism

But Fox’s kind of celebrity activism is relatively rare. Wendy’s founder Dave Thomas and Apple founder Steve Jobs both died from versions of NET cancer. Neither of their fights with the disease has made much difference in the fight against NET cancer. As someone who lost his wife to that particular rare disease, I can understand why they and their families did not get more involved in raising awareness about NET cancer.

I watched my wife be kicked to death by one such zebra.

When you have NET cancer every ounce of your energy–and the energy of your family–goes into fighting what you have. The death can be so horrible at the end the family cannot think about the disease without being drawn back into that whirlpool. I wonder sometimes if my own grief process would not have been better off if I had just walked away from NET cancer after Jane’s death. Working on cancer in general instead would have kept me from daily interactions with the disease and might have let me bury those final memories. Instead, they remain fresh in my mind.

The rare disease bake sales

But that is a road not taken at this point. It is a road many families who lose loved ones to rare diseases choose not to take. They organize bake sales and bike rides and entertainments to raise the money to support research into the rare diseases they are either afflicted with or have a loved one afflicted with. Their efforts often seem puny compared to the massive breast cancer walks that seem to pop up everywhere these days.

I’m a zebra–and I am here to kill you.

But the efforts of those folks as they struggle to raise what amounts to a rounding error on what we spend on the more well-known diseases are anything but meaningless to the researchers struggling to find treatments and cures for these orphans in the storm.

Every dollar counts

In December, I met with Jennifer Chan, who was Jane’s oncologist at the Dana-Farber Cancer Institute. I was there to deliver our final check for last year–a check that took Walking with Jane’s donations to the Program in Neuroendocrine and Carcinoid Cancer to over $49,000 for 2012. I know exactly what it took to generate that seemingly tiny figure.

…doctors are trained to look for horses not zebras…

But I also know just how important that sum is to work on this one rare disease–and how important all the small sums that are raised by small groups of dedicated individuals are to all the researchers who work on the non-glamour diseases that don’t get much press or much attention.

Today is a day to act

Today is Rare Disease Day. Do more than wear zebra. Pick a rare disease–one that doesn’t get much attention–and do what you can to help.