Thursday, February 28, 2013

Rare Disease Day

Today is Rare Disease Day. It is a day that I came to appreciate much more a few years ago when my daughter was diagnosed with a rare disease. When you put them all together, rare diseases actually affect a lot of people. It is estimated that rare diseases affect 300 million people worldwide, and that 30 million in the US alone have some type of rare disease. Hearing that doesn’t make it seem so uncommon, does it?

When you think about the fact that most of these diseases take a year to get diagnosed and that 95% of them do not have an FDA approved treatment, the patients who have these diseases really struggle to get diagnosed and then to find good care. Many times the physicians who see a patient with a rare disease has never seen a patient with that disease before. He may be relying on out of date information. The patient may never meet another person who has that disease, and they may feel very alone in their healthcare journey. When you consider that as many as 50% of people with rare diseases are children, it is even more frightening to me. This infographic really helps tell the story.

There are three main problems that people with rare diseases seem to relay when asked. First, it takes way too long to get a diagnosis, as there is just not enough awareness about these diseases. Secondly, once you get a diagnosis, there is not a gold standard of treatment that is available or even agreement in many cases on what the treatment should be. Thirdly, there isn’t enough research to find treatments and cures for these rare diseases as most research is done to find cures for more common diseases.

Today, I am very thankful for the National Organization for Rare Disorders (NORD) for focusing on this population starting 30 years ago today.  NORD was instrumental in getting the Orphan Drug Act passed to encourage the development of treatments for rare diseases.  I am thankful for the awareness that today brings to all of the people who have not heard of rare diseases. It is always my goal to teach more people about rare diseases because maybe it will help someone get diagnosed earlier and begin treatment faster.

Of course, my passion for rare diseases began on a personal note.

It is a morning that I will never forget. June 18th at 8am. It came after a very long week of waiting. What originally seemed like a pesky rash had obviously become much more. Even though the doctors thought it was psoriasis, deep in my gut I knew that it was much, much more. As we waited for the biopsy results for a long 7 days, I went back and forth between convincing myself that it would be psoriasis and freaking out that it might be something much worse. When we arrived in the exam room, we were told that the biopsy results weren’t back yet. The nurse assured me that the doctor had noted that she was almost sure it was psoriasis. As we are driving away, I got a phone call to come back immediately. I knew at this moment that the news would not be good.

As the doctor carefully tries to tell me the biopsy results, she keeps saying this word that I cannot quite understand. Now, it is a word that rolls off my tongue, but at that moment Juvenile Dermatomyositis was as foreign and scary as can be. As the doctor got tears in her eyes telling us about this rare disease that affects most of the body systems, I because very protective of my then 11 year old daughter. She is looking at me with this terrified look because she knows something is very wrong, and she is scared. I didn’t dare ask more details in the exam room, as I had no idea what the answer might be in front of my daughter. Tests were ordered, and we were sent to the pediatrician to verify the medications that the doctor ordered were appropriate for her.

I started googling right away and of course saw the “death” word in many of the articles. This was not the encouragement that I was looking for. I called a dear friend and asked him to be looking it up in his medical journals, and he started reading to me as I was driving.  In the next four weeks, I am pretty sure I googled Juvenile Dermatomyositis at least 1,000 times. I read everything I could get my hands on. My daughter’s doctor had never seen a case of it. Every physician friend I know had never had a case of it. We were referred to a pediatric rheumatologist who couldn’t take an appointment for 3 months. THREE MONTHS!?!?! What do we do in the meantime? How do I know if something is wrong? How do I know if the steroids you are giving her are helping? How do I know if they are not? Three months?

It was that week that I found the Cure JM organization, a non-profit dedicated to finding a cure for Juvenile Myositis, which is a rare autoimmune disease that affects about 5,000 kids in the US. Without this group, I am not sure how we would have survived the almost 3 years since diagnosis. This group of parents works tirelessly to raise awareness, to provide support for families, and to fund research. Most of us feel that without CureJM, there would be little to no research done. The fundraising efforts have helped create three centers of excellence for research and treatment, and it has even funded the first book on Juvenile Myositis for patients.

Thank you to organizations like Cure JM and NORD for paving the way to improve the lives of people with rare diseases one-step at a time. I am proud to do my part in the movement to raise awareness and to raise funds for research. I look forward to the day that there are more treatments and cures for rare diseases, especially Juvenile Myositis.


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  11. Hello, Amy. I just received a petition in my inbox this morning for your daughter, Morgan. I just want to share some information with you that could possibly cure your daughter. Please check out Mike Adams' 'Natural News' site about GMO's, High Fructose Corn Syrup, Aspartame and all other toxic chemical pollutants that are causing auto-immune diseases in children these days.
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