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Orphan Deseases- A Silent Suffering

genetics unwound

Cancer is sexy, it’s hip, it’s in, it’s news. All types of cancer, think of a cancer organization; I bet you can. Rightly so since cancer sucks, a cure should be found and we should shout at the top of our lungs that there are people suffering.

There is a beautiful sense of cooperation and unity when you can get a group of people together, like people suffering from cancer and start turning the large wheels of progress to find a way to cure something so dynamic.


It gives hope, not just the people with cancer, but the whole of humanity, that we could come together and right some cosmic wrong. It is incredible.

Which brings me to the unfortunate part, cancer is bad, there are a lot of people who have cancer, and because of the sheer numbers involved, finding a cure is something important to a lot of people. It is literally life saving work.

What about the rare diseases? Who champions finding a cure for something that affects [as defined in the US by the Rare Diseases Act of 2002] less than 1 in about 1,500?

Horrible diseases, things without names or known causes. Painfully debilitating diseases that are, if not deadly, a disgusting bastardization of what a life should be. Who even thinks of that and all the permutations that spring forth from those diseases?

I will admit, I never gave much thought to Mucopolysaccharidosis or Klippel-Trenaunay-Weber Syndrome. Things so rare, they are named not after the symptoms of the disease or the presentation, but the scientists who discovered them.

Who would though? Until one of those rare diseases comes knocking at your front door and you can’t ignore it any longer.

Enter my sister.

A relatively unspoiled, beautiful person in a not-so-forgiving life. The world is never a fair place and this single occurrence epitomized that idea. One day, this insidious disease brought with it uncontrollable amounts of pain in the hands and feet. Pain that was so unbearable that it could not be controlled completely with any amount or type of drugs.

No amount of testing or specialists could give an answer to the cause. Where my own bias says that it is a autoimmune disease, there is no test that has shown this to be the absolute case. Nor has any course of treatment, thus far shown any sort of relief when the onset of symptoms occur.

Waiting has been the only thing that has brought relief. After months of pain because of this mysterious illness, its control over her slowly weans away.

Is she back to normal afterwards? No, unfortunately.

But it’s close to normal and although the realization that she will have to live with this for the rest of her life has, in moments of self reflection, brought her depression, she still remains ever hopeful and bright.

Nevertheless, the silent war continues against orphan diseases and the people that have to suffer because of them. Thankfully there are a few champions out there that have started making noise, even in the face of the underwhelming numbers that come from diseases like these.

Do you know someone who falls in this category like my sister? Do you need help figuring out where to start? Or help figuring out treatment and more importantly paying the bills that will inevitably come from treatment?

I have compiled a few resources for anyone who might need help in this case, in the hope that you or someone you know won’t be as lost as we were when we started this process.

The Rare Genomics Institute
RGI focuses on rare diseases brought on by genetic defects. They offer a crowd funding approach to help people pay for genetic testing. Not only that but they have a network of Doctors that specialize in treatment. You also get a sort of case worker that will stick with you every step of the way to help you get the care you need and help you ask the right questions.

National Organization for Rare Disorders
I should just list what NORD doesn’t do for the people they help, it would be a shorter list. They offer help with paying for drugs, state specific insurance information, and they also help pay co-pays and other expenses that aren’t covered by insurance. They have resources for Patients and Doctors alike and advocates for people needing care. They are nothing short of an amazing group.

Genetic and Rare Diseases Information Center
Don’t know what that hard to pronounce disease is about? Want to learn more about any genetic or rare disease? This is a comprehensive list of diseases that you can search by either first letter or by name. The NIH [National Institutes of Health] offer resources and research for the kind of people who like to be prepared and in the loop.

The last and most important pieces of advice I can give from this process is this; if you think that you are not getting the care you deserve or want, get a second opinion, it is your right and Doctors are just as human as you or I.

The second piece of advice I can give is this, never give up and don’t lose hope, it’s never over until it is over and if you don’t quit, then there is always hope, no matter how small.

3 responses

  1. This is a great post. I didn’t know that NORD helped with these things. Also, are you aware of Global Genes Project?


    March 26, 2014 at 9:02 am

    • Thank you, no I was not! Thanks for pointing me in that direction 🙂


      March 30, 2014 at 11:37 am

  2. Pingback: St. Johns Wort and the Dangers of “Alternative” Medicine | Loony Labs

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