Ask Yourself 8 Questions If You Think World Rare Disease Day Doesn’t Apply to You

Posted Friday February 19, 2016 by Melissa

Ask Yourself 8 Questions If You Think World Rare Disease Day Doesn’t Apply to You

 

Approximately 1 in 10 Americans suffers from a rare disease. That statistic sounds big and meaningful, even considering that there are approximately 7,000 rare diseases collectively.  

But on the flip side, that means that 9 out of 10 Americans do not suffer from a rare disease. Why should they give a flying flip about rare diseases or World Rare Disease Day? Of course, some percentage of those people have someone with a rare disease in their immediate family, or their extended family, but that still leaves a large portion of the population “unaffected” by rare disease.  

If that’s you, why should you care about World Rare Disease Day, coming up on February 29? Here are 8 questions to ask yourself:

1.     Are you or will you be a Parent? When 2009 began, I had three healthy children. Or so I thought. Rare Disease Day didn’t apply to me until April 2009 when my youngest son was diagnosed with Hunter Syndrome (also known as MPS II), a disease that affects only approximately 2,000 patients worldwide. Although it’s a genetic disease, his was caused by a spontaneous mutation that can happen to any child upon conception, most of which are not tested for in the womb (reminder: almost 7,000 rare diseases, many of which have multiple, even hundreds, of different mutations that cause them). In many genetic diseases, children (and sometimes even into adulthood) appear normal until the disease begins to manifest itself. One day your child is just a regular kid. And then the next day, you find out he’s dying. That may never be you. But it could be.

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Our official World Rare Disease Day t-shirt campaign is now available on Booster!

2.     Are you or will you be a Grandparent? Sometimes grandparents or other relatives notice things that (often overwhelmed) parents don’t even see. My son was actually diagnosed by my mother, his grandmother, after she watched an episode of the series “Mystery Diagnosis” about, you guessed it, a boy with Hunter Syndrome. His symptoms were so mild that neither his doctor nor I picked up that anything was amiss. Neither did the several specialists he’d seen for various reasons in his first two years of life. There are countless other stories of an aunt here or a cousin there who help point their relative in the direction of a rare disease diagnosis.

3.    Do you know someone with autism? Sometimes autism is caused by a rare genetic condition.[i] Autism may be a symptom of the underlying disease. Sometimes doctors or parents think it’s “only” autism for years, and then when the child starts losing skills, they realize it’s actually a genetic condition. You might say, “Well, what does it matter if a child’s autism is caused by a rare genetic condition or not?” Because some rare diseases actually have treatments, and some have promising research that may offer clinical trials. And some need advocates to start the research path. The downside of autism awareness is that sometimes doctors and families stop asking questions once they diagnose autism.

4.     Do you work in a school? There are good odds that at least one child (or teacher!) in your school has a rare disease. Why does that matter to you? One, remember those grandparents or other family members who notice things? You spend many hours a day with children and may notice things too. Now, of course, sometimes it’s not your place to say anything, but circumstances are sometimes unique. And sometimes, parents freely share their child’s unique diagnosis. Knowing more about the particular rare disease and how you can support that child in a school setting makes you not only better at your job, but a better human being.

5.     Do you work in health care? Those who are eventually diagnosed with a rare disease report that it takes on average 7.6 years in the U.S. and 5.6 years in the U.K. to receive a diagnosis.[ii] During that journey, on average they see eight physicians – four primary care and four specialists.[ii] Even if you are not a physician, imagine all the nurses they see in that process, all the waiting rooms they sit in. Some patients have even been directed toward a diagnosis by another family sitting in the waiting room. And for patients already diagnosed, health care looks very different. They often have multiple specialists, just for the symptoms of their rare disease. Awareness of and support for rare diseases is key for anyone working in health care.

6.     Do you have health insurance? Often the medications developed for rare diseases are quite expensive. While rare disease medications are currently a small percentage of the overall health care spend, as more treatments are developed, the policies surrounding rare disease pricing become important to all of us, considering health insurance ratings and health policy in our respective countries.

7.     Do you visit Dr. Google? One in three Americans has gone online to figure out a medical condition.[iii] More often than not, it could be an ear infection, or toe fungus, but sometimes, it could be something more rare. Being aware that rare diseases do exist, when to see a specialist, and when and how to connect the dots of seemingly unrelated symptoms to push for a diagnosis, can shave years off of the search for a rare disease diagnosis.

8.     Do you have 10 friends? If you’ve made it through the above and still none of them apply to you, you might just live on a solitary island in the Pacific. Since you’re reading this on the web, I’m guessing not, and I’m guessing you at least have 10 friends. If so, then chances are that at least one friend in your life has a rare disease, or has a child, a spouse, or a parent with a rare disease. One way to support that friend is to help them raise awareness on World Rare Disease Day, February 29, 2016, or to fundraise in support of an organization for the disease that affects them.  

World Rare Disease Day is our call to arms as a rare disease community. Join us. 

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[i] Autism Speaks: Genetics & Genomics, https://www.autismspeaks.org/science/initiatives/autism-genome-project (“Clinicians can now identify the genetic basis of ASD in 10 to 20 percent of cases. We expect these figures to grow dramatically in the coming years as genetic discoveries continue to accelerate.”); Autism Society: Causes, http://www.autism-society.org/what-is/causes/
[ii] Shire plc, Rare Disease Impact Report (2013), https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf
[iii] Pew Research Center, Health Online 2013, http://www.pewinternet.org/2013/01/15/health-online-2013/.

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