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Don’t Leap Over World Rare Disease Day

Rare Disease Day IconMy favorite quote from Yogi Berra is: “That restaurant is so crowded, nobody goes there anymore.”  The 86-year-old Yankee Hall of Famer is arguably better known for his oxymoronic witticisms than his standout career on the baseball diamond. And I think that’s because his sayings, as nonsensical as they sound, often hold some truth.

If Yogi had ended up in medical research (a scary thought, I know), he might have been famous for saying something like: “Rare diseases — everybody’s got one.” As much as that sounds like a contradiction, it’s very true. There are, in fact, more than 7,000 rare diseases, and about one in 10 people in the United States has one. A disease is considered rare in the U.S. if it affects fewer than 200,000 citizens.

But even a so-called common disease like cancer is really a group of hundreds of not-so-common diseases. In fact, variations in more than 250 genes have been shown thus far to increase cancer risk, and there are undoubtedly more to be found. That means cancer researchers are really trying to understand, treat and cure a daunting number of diseases.

That’s what makes today, World Rare Disease Day, so important. It raises awareness about the fact that there are thousands of rare diseases affecting millions of people, and we need to drive research to treat and eradicate them.

The Foundation Fighting Blindness works tirelessly to bring an end to dozens of rare, vision-robbing retinal conditions, including retinitis pigmentosa, Stargardt disease and Usher syndrome, to name just a few. In 1971, the Foundation was established because these conditions weren’t on anyone’s radar screen. There were virtually no scientific experts who understood them, and no pharmaceutical companies working to find treatments or cures. A few families came together and created the Foundation because they were determined to get answers and knew they had to take action; no one was going to do it for them.

But, interestingly, the research we fund today — cutting-edge projects, such as gene therapy and stem cell treatments — has applications that go beyond the retina. That’s because the retina is neural tissue, an extension of the brain, so some of the treatments we fund to correct genetic defects or replace neural tissue may someday help people with conditions like Alzheimer’s, Parkinson’s, multiple sclerosis and spinal-cord injuries. And vice-versa.

Also, the retina is much more accessible than the brain, because it is outside the skull and a small, easy target — only about one square inch of thin tissue lining the back of the eye. This gives our researchers a leg up in the development of these powerful, innovative treatments.

So when we achieve success in saving and restoring vision — such as in clinical trials of gene therapy or stem cells — our victory may someday have an impact that goes well beyond the retina and the rare diseases that affect it.

In fact, the Foundation isn’t the only organization fighting hard to eradicate rare diseases. Among those we consider allies in the cause having just as much impact are: the Alzheimer’s Association, The Michael J. Fox Foundation, the Christopher & Dana Reeve Foundation and the Myelin Repair Foundation.

Speaking of impact, you probably didn’t know that Yogi Berra holds the record for the most World Series appearances as a player (14). That’s a pretty amazing and inspiring accomplishment, if you ask me.

But you probably did know that Yogi Berra is most famous for saying, “It ain’t over till it’s over.” I’d say that’s a fitting mantra in the drive to end all rare diseases. No doubt it is the Foundation’s mantra in the fight against blindness.

4 Responses to 'Don’t Leap Over World Rare Disease Day'

  1. Breanna says:

    Rare Disease Day is the day when we all think about all those people who suffers and fighting with death every minute.

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