Rare Disease Day Important To Chronic Pain

Rare Disease Day Important To Chronic Pain

By Ed Coghlan

February 29 is Rare Disease Day. Did you know that different rare diseases that affect 300 million people worldwide?

34 year Paula Torres lives in Chile who has suffered from chronic pain all of her life. Like many pain patients she has a rare disease which was hard to diagnose. Her is how she described her journey on the Rare disease website.

“I was always told by doctors that “it was all in my head” that “I did it to myself on purpose”. My teachers always got mad at me, my friends did not understand me. However, I had the support of my amazing family, especially my mother. At age 25, after 17 sprains in my right ankle, I decided to investigate on the internet. I discovered that I suffered from EDS (Ehlers-Danlos Syndrome). A genetic disorder that affects the connective tissue in my body. Basically I look younger (20), but my inside (organs and bones) is older (70). I suffer from things I should not at my young age. It is very hard to treat; I take many medications just to be alright. Had I known when I was young, my life might have been less painful. It is important to learn and disseminate rare diseases. To stop the bullying and the stereotypes. Just because we look “ok” to everyone else does not mean we are lying. We are sick, and need patience and support. Everyone has somebody in their life with chronic pain. Ask them what they need, we usually say we are OK so we don’t worry anyone, but we suffer a lot.”

Cameron Von St. James contacted the National Pain Report and asked that we draw some attention to this important day and topic. As he said:

“Awareness of rare diseases is especially important because families fighting rare diseases face unique challenges. Only half of rare diseases have a specific organization funding or advocating for the disease. Those fighting rare diseases also face misdiagnosis, expensive medical treatment options, and little community support. If you would like to spread awareness for rare disease day, take some time to educate yourself and others of rare diseases and cancers such as mesothelioma- a rare cancer that is caused by exposure to asbestos fibers.”

Cameron comes about his passion naturally.

Around 3,000 people a year are affected by mesothelioma, and only 5-10% live beyond 5 years after diagnosis. His wife Heather Von St. James is an exception to this statistic. Diagnosed in 2005- Heather had just given birth to her daughter and was given 15 months to live. Luckily, Heather was accurately diagnosed and was able to seek top treatment for her cancer at the Boston’s based Brigham and Women’s Hospital with Dr. David Sugarbaker. After undergoing a lung removal surgery and heated chemotherapy treatment called an extrapleural pneumonectomy, Heather is now thriving and a 10 year survivor.

Cameron and Heather now work to spread awareness of mesothelioma and the health risks of asbestos exposure which can cause mesothelioma.

We’re glad to have helped.

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Authored by: Ed Coghlan

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I feel badly for folks who suffer with rare diseases. My sleep apnea diagnosis was delayed, possibly since I was in college until when I was in my 30’s. At one point, I straight out demanded a sleep study. I was told I wasn’t tired. I was “just depressed.” (here take this anti-depressant and stop talking)

I value doctors who understand that the patient’s experience of the illness is not only important… it’s essential. It’s a clue that they wave right in front of your face. Shame to the doctors who want them to shut up and go away. I can’t be the obedient, mousy patient anymore or I’ll never get the help I need. When they went into medicine, didn’t they realize they’d be seeing patients… like real people? Even moreso, medicine is a collaboration between doctor and patient.

It’s a real shame and people with rare diseases probably have gone years without help they desperately need and definitely deserve.

April Nesmith

I don’t think my pain is hard to diagnose but I think it’s the doctors believing me when I have my flares it makes you feel like your crazy you know you hurt and sometimes it is hard to explain or how to pin point where the pain is at and then you get treated like every other patients that comes in my name is April and I’m sick of being in pain deciding whether it is beneficial to put on all of your prosthetics items just to walk your dog and by the time you have done that you are hurting more.


What stage lung cancer?my dad was stage 4 and only kived for 10 months after being diagnosed.mist people arent diagnosed w it until its too late,i dont understand why doctors dont test for this yearly since its fatal usually when its showing symptoms it should be a mandatory screening especially for smokers or people whove had other forms of cancer