Tag Archives: rare disease day

World Rare Disease Day

28 Feb

Today is “World Rare Disease Day.” It is a day of recognition of all those who have rare diseases and/or advocate for those who have rare diseases and disorders. There are events held all over the world on the last day of February (which is the 29th in leap years) to educate and inform people and government agencies about the challenges faced by folks who have rare diseases and disorders. Today (and all this week) there have been fellow XLH patients and medical specialists who have advocated for us in Washington, D.C. Their message to representatives and senators has been this: “Without consistent funding of the National Institute of Health, research into rare diseases will not be done. We are losing our next generation of young scientists when budget cuts are made across the board without regard to the needs of long term research.” Their message is simple, and a message that helps many Americans, whether they have XLH, or some other rare disease or disorder.

The Global Genes project (globalgenes.org) declared today to be a day that you wear your favorite pair of jeans in honor of World Rare Disease Day. I wore my favorite pair. Actually, it’s the only pair I can still get my derriere into.

Selfie with Jeans

Funny thing about cell phones. They make my legs look really long from this angle.

As far as I know, no one noticed that I wore jeans. It is not unusual for me to wear jeans, so they didn’t know that I was very intentional about wearing them today. Wearing them did nothing to change the world, or bring about awareness on a large scale.

But wearing them did this for me: I thought about a friend of mine that works with children with physical challenges and disorders, several of whom likely have some type of rare disease or disorder. I was silently thankful for her and people like her who do this work, day in and day out. They are probably under-appreciated. It is a very physically and emotionally demanding job.

I thought of my parents, who had to deal with the shock of learning that their first born one-year-old daughter had some strange thing called “Vitamin D Resistant Rickets” and would require many visits to the doctor, blood tests, medication, braces and rude comments from people who told them I wasn’t getting enough milk. It would also mean that they would need help from the March of Dimes.

I thought of another friend of mine who is a research scientist and works tirelessly for cures and treatments for all sorts of things. People like him have made some remarkable progress in understanding and treating XLH and other even rarer disorders. Because of their passion and curiosity, there are people now whose quality of life is much better than it would have been just 50 years ago.

And finally, I thought about those in my own support group, xlhnetwork.org, who went to Washington, D.C. to advocate for ALL people who are affected by a rare disease or disorder. I am grateful for them.

I like the slogan for NORD (National Organization of Rare Disorders, rarediseases.org). According to NORD, there are 7000 rare diseases that affect 30 million Americans. And their slogan is this:

“Alone we are rare. Together we are strong.”

Copyright S.G. Hunter and Banjogrrldiaries, 2014-2019

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