That’s right, I am Rare!
In honor of today being Rare Disease Day, I will share a little bit about what are rare diseases and follow this piece up with my own story. The following information are facts are from RareDiseases.org.
Rare diseases are determined if they affect fewer than 200,000 Americans; this definition varies amongst other countries around the world.
National Institutes of Health (NIH) calculates that there is about 7,000 rare disease that affect 25-30 million Americans. (This equates to 1 in 10 Americans, or one on every elevator & four on every bus.
There’s such a wide range of rare diseases that there are some commonly known, such as cystic fibrosis, and others less commonly known, such as McCune Albright Syndrome (my disease!).
You can learn more about rare diseases from the National Organization for Rare Disorders (NORD) which offers a database of about 1,300 reports of specific rare diseases written in a patient-friendly language on their site. To find a more complete list of rare diseases in the U.S. check the NIH Genetic and Rare Diseases Information Center (GARD) site.
Approximately 95%, of the 7,000 known rare disease, has no treatments. Many of these diseases are not being studied by medical researchers. Often, patients are treated “off-label” (treatments not approved by the FDA for the specific disease), which often leads to insurance reimbursement problems.
Many—but not all—rare diseases are genetic. Some are more apparent at birth while others aren’t identified until later in life. About two-thirds of Americans are children.
What are some of problem people with rare diseases experience?
Difficulty in obtaining an accurate diagnosis (possibility of being misdiagnosed)
Limited treatment options.
Little or no research being done on the disease.
Difficulty finding physicians or treatment centers with experience for a particular disease.
Paying for treatments that are generally more expensive than those for common diseases.
Reimbursement issues related to any kind of medical insurances.
Difficulty accessing medical, social, mor financial services/assistance because those making the decisions aren’t familiar with the disease.
Feelings of isolation and of being abandoned/”orphaned” by our health care system.
Rare Disease Day typically falls on the last day of February every year, the 28th or 29th in Leap Years—the rarest of calendar dates—to focus the public’s attention on rare diseases as a public health concern. Although rare diseases collectively are large in numbers, there’s not enough to be done for those affected by the individual diseases alone.
What can you do to help?
Celebrate those in your lives who are affected with a rare disease! Educate yourself on the disease that affects your friend, family, or loved one. Advocate in your town, city, or state to encourage more opportunities for funding with local hospitals to research. Share on social media articles, posts, etc. utilizing hashtags to maximize in our numbers. Donating to trusted organizations that go to support research/support groups for those with rare diseases.
Love you more,
Sarah Elizabeth
Copy & Paste the hashtags below to help celebrate!
#ShowYourStripes #RareDiseaseDay2020 #RareDiseaseDay #RareDiseases #RareDisorders
#McCuneAlbrightSyndrome #FibrousDysplasia #MAS/FD #FDwarrior #FibrousDysplasiaFoundation