"Rare"... To be or not to be?
You are here
Guest post by Michelle Breedlove Sells
February 24, 2014
"Rare" To be, or not to be... Rare? THAT is the question.
{Originally posted Feb 28th 2014}
Every year when "Rare Disease Day" rolls around I get the same type of inquiries. "22q isn't really rare. So why are we (you/the 22q community) taking part in "Rare Disease Day"". I typically end up answering the emails or Facebook posts individually. Because fundamentally I agree with that way of seeing it. I whole heartedly understand it and struggle with it myself. So I try to take the time to stop and formulate a reply that illustrates the difficulty of this decision. Decisions where there is no clear answer. I'm pretty confident there are rarely crystal clear answers for important topics... Neither is there enough time in the day to make sure everyone see's the commentary or debates, which I happen to think is important. But for anyone who's interested. Here's a copy of my reply to a question on the topic of 22q and "Rare Disease Day".
"Yes, I've had this dialogue on a number of occasions already. I too believe 22q is not a "rare" syndrome. I commonly refer to it as "a common syndrome, that is rarely diagnosed" However, where the red-tape and bureaucracy is concerned, it is. For example.... In order to have 22q deletion syndrome added to the newborn screen it must be approved by the "Us Secretary's Committee on Childhood Diseases and Heritable Disorders". They consider it rare... But hear me out.... "Rare Disease Day" is an internationally celebrated day. There are meetings and events happening all over the world and specifically in Washington DC this week and next. All of them related to resources associated with "rare" diseases and disorders. I did not think it was wise to abstain from the awareness event given that the resources and legislation that these folks will and have fought for would indeed be beneficial to the 22q community. It's a double edged sword... I suppose we could take the strong stance that 22q isn't rare, but then we would not have had 277 (last I checked) sporting profile pictures with information about 22q right now. But again, I completely agree that 22q is not rare. However until we have a thousand or more people willing to jump in the mix and go to Washington, or raise money for research. I think it would be a mistake to not take part in events that ultimately raise the level of awareness for our community of families and hundreds of thousands of families dealing with similar issues and limited resources for "rare-er syndromes and diseases. But I understand your commentary... Just trying to work within the confines of what tools we have available to us." -Michelle Breedlove Sells
P.S. To the Moms & Dads who posts these questions respectfully... I say, Thanks. Asking questions means you are paying attention and using your voice. These are both good things.
Guest Blogger Photo:
My name is Michelle Breedlove Sells and I have a rare disorder. I am imperfect and covered the scars that are my daily reminders of my “rarity”. In 1975 (the year I was born), rarity meant white blood cell issues, a missing thumb and the use of only two fingers on my left hand. It also meant major spine surgery at 13 years of age to address a spine that twisted and curved (severe scoliosis) threatening my vital organs. It meant being “different” from the other kids. It meant I had to quit dancing at thirteen. It meant I was called a “four fingered freak” and humiliated at school for wearing a back brace. Most of my major issues were addressed during my youth. But as I type this message today... my rarity leaves me unable to have children. My Rare Disorder rarely leaves me be. There are millions of us with rare disorders! From birth, we are silently tasked with rising above our "rarity"! At 38 years old I choose to rise above my own "rarity" by championing my god-daughters rare disorder; it’s called 22q11.2 Deletion Syndrome. I’ve spent the last 3+ years meeting children and adults like her from around the world. They are all different. They are all perfect in their imperfection and I ask you to take heed of their communities cry for help! There are no million man marches for 22q Deletion Syndrome. There is no widely recognizable pink ribbon, or yellow bracelet that signifies their cause… YET! I Michelle Breedlove Sells, the “One Thumbed Crusader” will spend the rest of my days working to bring greater public awareness of 22q Deletion Syndrome. I am blessed beyond explanation and thankful that my rarity differentiates me from the crowd. It is this rare gift that I intend to use to make a difference in the lives of those affected by this syndrome. -MBS