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.