5 Obstacles People with Rare Diseases Face; Readers Share Their Stories

Feb 17 is Rare Disease Day in the U.S.A.
Feb 28 is Rare Disease Day in the U.S.A.

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.   February 28 is Rare Disease Day in the U.S.  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).  Note:  Some of these obstacles can also happen to people whose diseases are not rare.

5 Obstacles People with Rare Diseases Faced:

  1. Not Knowing Anyone Like You
  2. Late Diagnoses
  3. Misconceptions
  4. Bullying
  5. People Not Being Able to Pronounce Your Disease (AKA “Huh-Say-What?-Syndrome”)

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.

SHAHONNA’S STORY

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.

MICHELE’S STORY

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.

ASHLEY’S STORY

Dx:  Hypothyroidism

Bullying Happens to People with Rare Diseases
Bullying Happens to People with Rare Diseases

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.

SHANNON’S STORY

Dx: Ehlers-Danlos?

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

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Do you live with a rare disease?

Whatever the illness, don’t fight alone!  Meet other great warriors at: https://www.facebook.com/fashionablyill

–Your Stylist, Jessica Gimeno

 

JessicaGimeno

Hi, I have five illnesses--bipolar disorder, myasthenia gravis (neuromuscular autoimmune disease), polycystic ovarian syndrome, asthma, and psoriasis. Most of the organs in my body are affected. I'm dedicated to being a stylist for sick women. As someone who has experienced changes in my appearance due to my 12 meds (including Prednisone), I know how hard it can be when your face and body change overnight. (In fact, because of treatment, between 2008 to 2010, I went from a size 0 to a size 10. While I lost the weight, there are permanent changes in my face and body, which I've grown to appreciate.) My blog will also help women deal with other issues like surviving chronic pain and fatigue. Healthy people can also use this blog as a window into what life with illness is like. Let this website be a place where we can draw strength from each other despite our illnesses and find solutions to our everyday challenges!

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