RARE DISEASE DAY highlights the reality for over 300 million people globally, who are living with diseases so uncommon that healthcare systems around the world lack the diagnostic tools, research, and funding to provide sufficient, impactful treatment options.
In my work as a Chinese Medicine Practitioner, I've seen first-hand how this lack of resources and treatment options has impacted patients.
As a young girl, my patient "Michelle" was diagnosed with a very rare condition called Mitochondrial Disease. Like many people with "rare" diseases, it took over a year for Michelle to have her symptoms taken seriously, and then finally received an accurate diagnosis. Once diagnosed, crafting a meaningful treatment plan was challenging, as so little was understood about her condition. Mitochondrial disease still has no cure . . . yet.
Michelle was already 16 years old when I met her. By then, she was on a feeding tube, wheelchair bound, and had a permanent medication-pump to help manage incessant pain. Her body was also combating kidney, liver, and spleen dysfunctions as a result of the disease' progression. While Michelle had surpassed the life expectancy for her type of Mitochondrial disease, her quality of life declined each year. As with many rare diseases, there were still very limited treatment options, and research remained stinted by a lack of funding.
Through regular home-visits I came to know and adore Michelle and her family. During our treatment sessions we talked and laughed together - about boys, career goals, dating, the costume she was sewing for Halloween (she dressed up for every holiday and occasion). Other times, when Michelle's pain overrode everything, we talked little, and the Acupuncture and bodywork treatments allowed her to sleep and step out of her body for relief. Our treatment sessions were bright spots in my week, I saw first-hand how Acupuncture and Traditional Chinese Medicine helped mitigate her pain and enhance quality of life, at points when medications had hit their limits.
There are few financial and emotional-support resources for families and caregivers of people with rare diseases - and Michelle had a deep awareness of how hard this journey had been on her family, not just herself. She worried about her Mom, who had resigned from work to become her full-time caregiver; and her Dad, who worked exorbitant hours to support them all. It was an enormous undertaking for them all.
Every year on Michelle's birthday, she and her family threw a fundraising dinner and Mitochondrial disease awareness campaign. Her goal was to both celebrate life and highlight the need for research and treatment for those with rare diseases like hers.
Michelle died a few months after her 22nd birthday. Her story reflects the story of many. There are over 6000 rare diseases - the majority of which, lack accurate diagnostic tools, research and funding, and impactful treatment options.
We can all be allies and advocates by learning more, helping to raise awareness, and by sharing their stories.
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