5 Things Every Person Living with a Rare Disease Understands
Most people have heard the term “rare disease” but far fewer can name a rare disease let alone imagine what life might be like for those who have one. When it comes to rare diseases, including rare pituitary diseases like Cushing’s disease and acromegaly, what’s truly rare is the kind of public awareness and understanding that people with a rare disease truly deserve.
Rare Disease Day, which falls on February 28, aims to spread awareness about these conditions and the impact they have on patients’ lives.
How rare is “rare?” On one hand, people with a specific rare disease are statistically few and far between – in the U.S., a disease is considered rare if it is believed to affect fewer than 200,000 Americans. In the UK, a disease is considered rare if it affects fewer than 50,000. On the other hand, there are over 6,800 such diseases, according to the U.S. National Institutes of Health (NIH), so for something considered “rare” there sure are a lot of them.
In support of the rare disease community, Novartis will be launching an educational initiative called “A Day in My Shoes” which aims to tell the stories of people living with acromegaly. We spoke to several individuals for this post, and, as part of this effort to educate, they shared five things almost every person living with a rare diseases knows:
- Getting properly diagnosed is one of the biggest challenges. Rare diseases are so rare that the symptoms are often misunderstood and as a result, people with rare diseases often spend years trying to get properly diagnosed. In the case of acromegaly, getting a correct diagnosis can take anywhere from six to 10 years and for Cushing’s disease, it can take about six years on average. By the time they’re diagnosed, many patients are just relieved just to put a name to their symptoms.
- Your friends may know about your diagnosis, but only a few gems will really get what a chronic illness is or what it means. Many people are so uninformed about rare diseases that they expect your rare disease to clear up like a lingering flu. Blogger Rachel Wilson has Cushing’s disease, an endocrine disorder caused by a noncancerous pituitary tumor which ultimately leads to excess cortisol in the body. “There’s not a lot of empathy,” she notes. “Even some people that know me kind of get annoyed. ‘You’re sick again?’ or ‘What do you mean you can’t walk with us? But you walked last week!’”
- You choose whom to tell very, very carefully. Most people living with rare diseases agree that once a diagnosis is public knowledge, people treat you differently. “I want them to know I have serious health issues but… I don’t want people to look at me like I’m disabled,” Rachel explains. There’s a paradox that patients face – wanting to tell but knowing that the people they tell are likely not to truly understand without a lot of effort on their part to explain…and then still, they probably won’t get it like they do with more widely known diseases such as cancer or multiple sclerosis.
- Rare disease patients often play a large role in educating their doctors. Rare diseases aren’t just rare to the general public, they’re often rare to the physicians who treat them, even specialists. You’ve tried what seems like every available treatment, read medical journals, and done your own research. With all this, plus just living with the condition, you are the world’s foremost expert on how your rare disease affects you.
- People will try to cure you. Not just your doctors. Everyone. Your Aunt Sally swears by a green smoothie and its healing properties. Your son’s third grade teacher has these supplements you simply have to try. “Everyone knows everything about anything,” is how Rachel puts it. “People like to diagnose you, or treat you, or, since they heard about this on a TV show, they know it’s not as bad as you make it out to be.” Many rare disease patients feel that people equate “rare” to “not really understood by the medical community.”
And while some of these realities for people living with a rare disease may indicate that they want both privacy and just to be treated like everyone else, most are strong advocates for public education efforts. Cushingstories.com co-founder Rae Collins notes, “Educating was key. To help others understand the disease, for me to understand it more, to help doctors even understand what I was going through. The more people who understood in my life, the better it became to me.”
Check out Novartis’ The Voices of Acromegaly and Voices of Cushing’s disease, a three-part video series that feature advocates, caregivers and people living with rare diseases on the Novartis Rare Disease YouTube Playlist.
For additional information on rare diseases and Rare Disease Day, visit Rare Diseases: More Common Than You Think? or the Rare Disease Day 2015 website.
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