Bonus Post! On Rare Disease Day, People with Rare Diseases Speak Up

Today is Rare Disease Day, an internationally designated day to raise awareness of rare diseases. Many disabled people have one or more rare diseases. I thought it would be in the Disability Wisdom spirit to gather feedback from individuals who have rare diseases, in contrast to much of the other content out there that focuses on the views of our family members. I asked people with rare diseases to tell us “what is one thing you wish people knew about your rare disease?” Here are the replies. For people who consented, I also included a link to their Facebook profile, so that if you or someone you know has the same rare disease, you can connect with them.

• I have Achromatopsia. Most eye doctors have never heard of this, much less treated a patient with it. I would like for them to be honest and ask questions if they have never heard [of] or treated anyone with this rare condition, instead of trying to put it with other eye diseases. Nicole D Fincham-Shehan
• I would like to tell people that nori disease can be inconvenient at times, but it is not the end of the World. I live a fulfilling life and I just have to do things differently. All of the experiences I have had have been priceless and I wouldn’t change the way I am for anything. Mary Church
• I have trigeminal neuralgia. I would say the thing I want people to know the most is that sometimes extreme pain is invisible and you don’t always know what someone is going through sometimes if they seem tired or withdrawn it’s really because they’re dealing with pain, otherwise if they takeoff sick but they don’t really seem sick that much might be because of a real reason. So often I have to cancel or seem withdrawn or sometimes I even have to take off work last minute or leave early and some people will think that I don’t look or sound sick but it’s really because I’m having a bad pain day I just want people to understand that sometimes because you don’t look sick doesn’t mean that you’re not going through a lot of pain.-Anonymous
• I have undiagnosed neurological vision impairment. I want people to know that it’s real; I’m not faking it or making it up. It’s just that brain research hasn’t gotten there yet.-Anonymous
• Imagine that normal every day sounds such as: people talking and laughing, telephone ringing, dishes clanking, Music or TV,  lawnmowers, running water, refrigerators, etc cause you physical pain, that lingers long after the sound. Most doctors do not even believe you that you are in real physical pain and think that it is psychosomatic or all in your head, and the few doctors who do believe you still think you need to desensitize yourself, which only worsens your pain therefore increasing your sensitivity. This is what life is like for people who suffer from Hyperacusis with pain, a rare, debilitating, and poorly understood medical condition. Hyperacusis Awareness
• As someone who may very well be the only person with a documented case of my genetic mutation and combination of 2 rare diseases, I’m used to having med students and residents brought into my medical appointments, and as long as I’m not relegated to being a fascinating science experiment I am all for that education. But in public please do not ask me what’s wrong with me, or why my eyes are like that, etc. It’s just rude and invasive to ask what my medical history is, but people excuse that because they just pass it off as curiosity.-Anonymous
• Though I have many chronic health conditions, systemic Scleroderma is an auto-immune disease I have that’s changed my life in unexpected ways; ways in which quite frankly, I’d never want anyone to go through. So when I open up and share my experiences with this or any other medical issue, trust that I’m telling the truth. The things I am saying may not be like anything you’ve ever seen or experienced, but ultimately, I am the expert on my body; not a doctor or other medical professional…but ME! Chelsea Munoz