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Rare Disease Truths

Updated on October 10, 2014

Rare Disease Truths

I want to change the way you think of rare and rare diseases. Most people see the word rare as almost never happening, a sliver of a chance to not worry about. Truth is, 1 in 10 people (25 million in U.S.-350 million world wide) have a rare disease. With these numbers, it can be assumed that we all know someone who has one of these so called rare diseases. Doesn’t seem so rare anymore to me.

Another startling fact is that 30 percent of children who have a rare disease, will not make it to their 5th birthday. Almost all rare diseases are genetic and will be with the person their whole life, even though symptoms may not come up for years. Like a sleeping dragon waiting to rear it’s ugly head.

While the definition of rare diseases is still up in the air, The Rare Disease Act of 2002 describes it as less than 200,000 cases in the United States or (1 in 1500) They have also been coined “orphan diseases” for their lack of funding and research. The government has tried to boost research to diseases the companies have no hope of gaining their money back through sales by pass the Orphan Drug Act of 1983. However there is still so little known on so many diseases and frankly there is just no money for research. The only action is awareness. Awareness hopefully bringing funding.

As with the definition, the actual number of rare diseases is also subjective. Some estimate 5000-7000 known rare diseases. With only one known case, ribose-5-phosphate isomerase deficiency is known as the rarest genetic disease. So however subjective it may be, one can agree that it is not very rare in the big picture. The sheer amount of these diseases makes it hard for researchers to find funding, not to mention the lower number of patients to learn from.

The first Rare Disease Day was held in several countries on the last day of February in 2008. A small step that has been needed for a long time. Awareness and funding will bring research that will one day answer the questions and hopefully find cures, or at least better treatment methods.

I personally view rare diseases differently now because I myself have one. I was diagnosed with Idiopatic (Unknown Cause) Intracranial Hypertension (raised cranial pressure) At diagnosis, it was called Psuedo (like) Tumor Cerebri (Brain). It occurs in less than 1-100,000 people (U.S), although it is can occur in less than 1-1,000,000 in other countries around the world. The saddest part about the diagnosis was the lack of information.

I was pregnant at the time and I had to take Class C medication that had unknown side effects. I was lucky though, I did not need surgery to put a shunt in my head that has a 80% redo statistic. I am the lucky one who was gained reprieve from the chronic debilitating pain and side effects of horrid drugs. To that I am grateful, but have not forgotten, as it is not so easy to forget. I write this in awareness and to maybe change your view on “rare diseases,” as 1-10 people having one, it affects us all in one way or another. If someone close to you or even in passing daily, take the moment to learn about them. If that can not be accomplished, at least consider a bit more empathy. Be thankful you are not the 10% directly affecting and know that just because you don’t understand, does not mean you can’t have empathy for what that person is going through.


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    • JT Walters profile image

      JT Walters 

      7 years ago from Florida


      We have rare diseases as well and the last decade hs been horrific because when my son was born what he had had did not even have a diagnostic code. We still live a deslate area for medical services and must travel all over. They did not believe he would live past two, My son is almost 12. I think when the science is complete in Autism they will recognize it is also a rare disaese caused my a metabolic imbalance that has gone grossly undetected IMO.

      Great educational informative hub.



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