Tomorrow, February 29th is Rare Disease Day. It's a day to raise awareness of the impact that rare diseases have on individuals, families, communities, and society.
Fun Fact: The first Rare Disease Day took place on February 29th – a rare date that only happens once every four years – in 2008. Since, it has taken place on the last day of February each year.
I'll be honest, this is the first year I've known of Rare Disease Day. Rare diseases, while fascinating, seemed a million miles away.
What changed? In April 2019, I became the parent of a child with a rare diagnosis. In an abrupt, unexpected, and heart wrenching moment, I was thrust into a new role – a role as a special needs parent and advocate for my rare Angelman Syndrome warrior.
Over the past several months, I've been exposed to rare disorders, research, terminology, and a community that I had never known existed. And, here's what I've learned:
Rare Isn't Actually That Rare
In America, a medical condition effecting less than 200,000 people is considered rare. It's estimated that 25-30 million American's, or 1 in 10, have rare diseases. Let that soak in a minute – ONE IN TEN! This means that people suffering from, overcoming, and thriving through their rare diseases and those that love them, care for them, and have dedicate their careers to helping them are all around us.
While the numbers for a specific disorder may be small, the cumulative impact of rare diseases is impressive!
Rare is Inspiring
There are approximately 7,000 rare diseases known across the world. Most are genetic or have a genetic component. For many, signs may be observed at birth or in childhood. The things humans can endure are mind blowing!
Those who face rare disease are nothing short of inspiring. These are people who don't take "firsts" for granted – they know that first words, first steps, firs days of school, or first jobs, don't happen, or don't come naturally, to everyone. They know that for some, firsts require hours of grueling therapy and many sleepless nights. They may get discouraged, angry, or sad. But, they pick themselves up remain positive, optimistic, and hopeful.
Just yesterday, I met a 13-year old girl with Osteogenesis Imperfecta, a rare syndrome that causes extremely fragile bones, who has endured 59 broken bones. She was showing me her favorite hip hop dances during her water therapy session and telling me how she finds people with rare disease happier than most.
If you take time to get to know someone with a rare disease, I promise you'll be better off for it.
The Rare Disease Community Needs Your Support
More than half of those with rare disorders are children. At this very moment, there are hundreds of thousands of parents struggling to receive a proper diagnosis for their child, learning to navigate complicated medical issues, driving long distances to receive proper treatments, reassessing their finances to figure out a way to give their children what they need, and advocating and praying hard for potential cures or therapeutics.
We know the statistics – that many rare diseases result in premature deaths of infants and young children, those with special needs are more likely to be abused, and divorce rates are higher among those with special needs children. We worry all the time, but we bury those worries to focus on giving our babies what they need today. We want time for "self-care," but we feel guilty missing an opportunity for physical therapy. We want help, but we are overwhelmed with how to "teach" this life to someone else.
So, what can you do?
Listen. If you come across a parent of or person with a rare disorder who wants to talk about it, listening and asking sincere, caring questions is incredibly meaningful. For me, spreading awareness of Angelman Syndrome, educating others, and being an advocate gives me more purpose and helps me feel productive in something I often feel little control over.
Share. "The more we share, the more we have." Sharing your connection to or knowledge of rare diseases makes a difference in two important ways:
1) It helps parents navigate this new world of rare disease. I can't tell you how much better equipped I am to care for Cami because of others who have had more experience than I sharing their story! 2) It raises awareness and helps us build a kinder, more understanding world for those with special needs or rare diseases.
Support. More than 90% of rare diseases are without an FDA-approved treatment. The research in many rare diseases, including Angelman Syndrome, is truly incredible. By understanding rare diseases, researchers are deepening their knowledge of how the human body and diseases function – information that will be critical to learning ways of treating more prevalent disorders. By donating to your favorite rare disease foundations, participating in walks, or even sharing a social media post, you're creating hope and helping us find cures or treatments for our rare disease warriors.
For more information, please visit the National Organization for Rare Disorders, where many of the statistics in this post have come from, and RareDiseaseDay.org.
Another great reason to remember Feb 29 as being a truly extraordinary day !