Did you know Rare Disease Day was February 28th, 2015 worldwide? A disease or disorder is defined as rare in the US when it affects fewer than 200,000 Americans at any given time. 80% of rare diseases have identified genetic origins and 50% of rare diseases touch children. There are currently 6000 to 7000 classified rare diseases. Why am I writing this, because chances are you know someone with rare disease. According to the National Institutes of Health, there are approximately 25 to 30 million Americans, nearly 1 in 10 Americans, currently affected by a rare disease. Even though each disease is rare, together they significantly impact the American (and world) public as a whole. My family counted and we know three people in our immediate world with a rare disease; these diseases are Kennedy Disease, Chromosome 22q11.2 Deletion Syndrome (22q), and Williams Syndrome.
Unfortunately because these diseases are rare, there is a lot of misinformation surrounding them. TV shows, like Grey’s Anatomy, have incorrectly stated “facts” about 22q, causing understandable uproar in the 22q community. 22q is a disorder caused by a small missing piece of the 22nd chromosome and it is estimated that 1 in 2000 to 4000 children are born each year with 22q. 22q is frequently referred to as the most common ‘rare’ syndrome you’ve never heard of.
Similar to 22q, Williams Syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 7 and affects approximately 1 in 10,000 births. Williams syndrome is characterized by a wide range of medical problems with the most significant being cardiovascular disease. This disease is most often not inherited but a random genetic mutation and is present at birth. In 2015, The William Syndrome Changing Lives Foundation has partnered with Positive Exposure to educate and transform people’s perceptions of those living with genetic, physical and behavioral differences.
Kennedy Disease is also known as Spinal Bulbar Muscular Atrophy, it is a currently incurable and non-treatable recessive progressive neuro-muscular disease. Often misdiagnosed as ALS, it is very similar in nature, causing muscle weakness and atrophy throughout the body. The nerve cells in your body become dysfunctional and eventually die, leaving the muscles unable to contract. It is estimated that 1 in 40,000 individuals worldwide have Kennedy Disease. Symptoms usually present in a man’s the late 20’s or early 30’s, however, earlier and later onsets have been recorded. While ALS life expectancy is between three to five years after diagnosis, people afflicted with Kennedy’s Disease can live out their full life expectancy.
These are just 3 of over 6000 diseases classified as rare – the 3 that enter my family’s world. Rare diseases are often unknown, underfunded, and in need of emotional support. Rare disease families many times feel isolated in their illness. Rare Disease Day is a day to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. Show your support for a rare disease in your life by raising your hands and snapping a picture to share on social media and on the Rare Disease Day website.
Consider a donation if you are able, March 3rd 2015 is the world’s first ever Rare Disease Giving Day; a campaign called “Give RARE” is a joint effort to raise money for registered disease and disorder non-profits.
Educate yourself and your children to let our friends and neighbors know they are not alone in their fights. The Mighty is asking readers for all of March to write a letter to the disability or disease they face (either directly or indirectly) to publish. Share in these incredible stories. The Mighty has introduced me to diseases such as Congenital Fiber-type Disproportion Myopathy, Noonan Syndrome, and has opened my eyes to truths people wish others understood about rare disease.
It does not weaken us to make the effort to understand and include those who are different. It strengthens all of us. —Carrie McGee
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