Did you know that 1 in 10 Americans has a rare disease? In the U.S., a rare diseases is defined as an illness affecting fewer than 200,000 people. Erica Barnes of The Huffington Post writes,”…there are over 7,000 rare diseases. When combined, they collectively affect…30 million people. Of these 30 million people, roughly half are children and 4.5 million of them won’t live to the age of five.” February 29 is Rare Disease Day. Check out this interactive map to see insurance options in your state on the Rare Disease U.S.A. website run by the National Organization of Rare Disorders (NORD). Rare diseases are also known as “orphan diseases.”
Note: Some of these obstacles can also happen to people whose diseases are not rare.
5 Obstacles People with Rare Diseases Faced:
- Not Knowing Anyone Like You
- Late Diagnoses
- People Not Being Able to Pronounce Your Disease (AKA “Huh-Say-What?-Syndrome”)
- Practical Research Challenges
Extra Dose of Loneliness
I have Myasthenia Gravis (MG). Of my five illnesses, MG is my only rare disease. Some estimates say that MG happens to 1 in 100,000 people. While there are struggles universal to all illnesses, there are additional complications that come with having a rare one. I have bipolar 2. While loneliness is part of mental illness, 4% of the population has bipolar disorder. I have four close friends who have bipolar disorder. In two of those friendships, we’d been friends years before either one of us was diagnosed. When I was diagnosed with MG, I knew no one with this illness. It wasn’t until four years into my illness that I became friends with other myasthenics through Facebook.
Dangerously Late Diagnosis
It can take longer to get a diagnosis for rare disease. The doctors in my family said I was a “textbook case of Myasthenia Gravis,” displaying a “constellation of symptoms.” I had dysphasia (difficulty swallowing), droopy eyelids, loss of balance, sporadic inability to feel my arms and legs, difficulty speaking coherently, weakness all over the body, and respiratory problems. Despite this, my primary care physician insisted that I was falling down the stairs at work because I was “just stressed out.” Never mind that I told her I was happy. (Part of my experience was mental health discrimination–bipolar = crazy, dishonest, and incompetent to some physicians. Part of it is sexism; women are more likely to receive later diagnoses and be prescribed less effective treatment. Also, many young people are told “we’re too young to be sick.”) All of these common obstacles are exacerbated when you have a rare illness–many doctors have never met anyone with Myasthenia Gravis. Days after I was diagnosed, I was in critical condition. I wouldn’t be alive today if not for the doctors in my family who diagnosed me while my PC missed it. They were the ones who insisted I see a neurologist, and they got an MG expert to see me who was not accepting new patients.
Dx: Aplastic Anemia
I have Aplastic Anemia, bone marrow failure that causes me to have weekly blood transfusions it makes me extremely exhausted but people think because I look normal I must just be lazy. But the fact of the matter is running out of blood will slow you down.
Dx: Breast Cancer (rare form), Ovarian Cysts, ME/CFS, Lichen Sclerosis
I had a rare form of breast cancer and it was triple-negative. The dozens of cysts they found in my ovaries only occur in 5% of those with ovarian cysts. I do have a very rare skin disease–lichen sclerois, which is now spreading rapidly. Plus any treatment has to take into account all these other disorders. It feels like I’m walking on a tight rope.
The summer before 7th grade, my thyroid stopped working. I spent the whole summer at the pool swimming. I became paler, gained weight and eczema formed in my joints, which looked like a ring of dirt. Students and teachers alike would give me tips and lectures about diet, exercise and the importance of properly bathing. All well and good when it actually works. Hypothyroid is a little more complex.
My current dx is Ehlers-Danlos Syndrome Hypermobility Type III, but there are several docs at NIH that believe I am a new mutation of a yet-to-be-named genetic connective tissue disease, and that EDS-III is just the closest one to what I’ve got. At least I got something to put on forms! It’s a painful chronic illness that affects absolutely everything I do. It’s tough when I try to explain to people what I’ve got, because even if I say I have a disease with a name – they’ve never heard of it.
I had parked in a handicapped space to use an ATM, but my wrist was hurting so I didn’t want to use my cane. An aggressive older man saw me and blocked my car into the space with his pickup so I couldn’t drive away. He got out and started yelling and swearing at me, berating me in front of others for “using my grandma’s parking pass” and being “spoiled and disrespectful.” I actually thought he might hit me when I tried to get into my car. He refused to move his truck and said he was going to call the police…I told the old man to call the cops or I would do it myself, that I had a legitimate handicapped placard, and told him what my general diagnosis from NIH/Stanford was. He stopped yelling, thought for a moment, and then said he’d never heard of it and didn’t believe it was a real illness…He appeared unsure of what to do. Then one last time he told me he didn’t believe I was really sick but that he’d better not see me again. He swore a few more times then got in his truck and sped off.
Follow Shannon’s blog here http://nippaininthebud.blogspot.com
Research Challenges, New Developments, & Hope for the Future
There are many obstacles when it comes to researching rare diseases. To begin with, patients are scattered all over the world–how do you convene a large enough number of subjects in one place to study a particular condition? Erica Barnes writes in the aforementioned Huffington Post article, “…medical literature describing key characteristics of a particular disease are scarce or non-existent, making it difficult for experts to build on previous knowledge. The current, traditional model of research and drug development that conceives of research results as intellectual property and sets up competition among researchers is unrealistic with such small patient populations. In order to overcome this barrier, some rare disease experts are leading advocates for revolutionary new research models that are more collaborative and open-sourced.” Thankfully, due to the diligence of patient advocates, the medical community has been paying greater attention to rare diseases in recent years. A few years ago, the FDA set up the Orphan Products Grants Program, whose goal “is to encourage clinical development of products for use in rare diseases or conditions. The products studied can be drugs, biologics, medical devices, or medical foods.” It’s also important to note that finding the cures to rare diseases (many of which are “single gene disorders”) may yield clues for more common diseases–many common diseases are polygenic and multi-factorial. It’s easier to understand an illness when you can isolate the cause and have fewer variables to consider.
You can learn more about rare diseases at www.rarediseaseday.org/ and meet other warriors on my Facebook page at https://www.facebook.com/fashionablyill/ Don’t fight alone!
–Your Stylist, Jessica Gimeno