Yesterday was a big day for those of us with Ehlers-Danlos Syndrome. You would never know that families all over the globe were so attuned to the American Journal of Medical Genetics (AJMG) unless you’re connected to an EDS Zebra.*
Why the hullabaloo?
Because yesterday, AJMG published the “internationally agreed upon 2017 EDS Classification, for the first time since 1997.”
“Ok, (yawn), international blah blah classification blah blah,” I know you’re thinking. But the bottom line is that for the first time in 20 years there has been enough awareness, organization, research, medical collaboration, genetic technology, and grassroots advocacy to ensure that EDS patients are diagnosed sooner, more correctly, and with better treatment protocols.
And, as I opened up the new classification late last night, there it was: COL5A1. That singular gene. That absurdly tiny, microscopic sliver of our heredity. The mutation in that molecular speck is what has thrown our life around like a ping-pong ball in a cattery. It marks cEDS, or Classical EDS, the type that Sophie and I have. There are 12 other types, each with their own markers and criteria. One other surprise for me was finding that my grandfather had a different type — aEDS. If we were to test his DNA today, we would surely find a mutation in his COL1A1 gene.
Up until now the medical establishment knew that this was a diagnostic marker. It is how Sophie and I were proclaimed Zebras. But it wasn’t official. It wasn’t coded (no pun intended) so that insurance companies and doctors were speaking the exact same language. I spent over a year asking, cajoling, begging, pleading, yelling, threatening and cursing at Blue Cross because they wouldn’t approve further genetic testing for Sophie. She needed more tests because other medical questions weren’t answered in the one procedure they did allow. Thankfully, we found an alternative way to get this NGS (next generation sequencing) completed and we’ll have the results in June. In the meantime, this new criteria will help save other families from going through the financial and bureaucratic stress that we did. I hope they are helped sooner rather than later.
So, while several months ago on this same blog, I railed against the “minutia” of Jewish law and how I found it meaningless, another type of “minutia” showed me that those details can have a mighty impact on existence. Life has a way of throwing some of your hard earned wisdom back at ya, sometimes. Just something else I need to consider.
I close by saying God bless the EDS Society and all of their lay and medical volunteers for making March 15, 2017 so memorable in our eyes. If anyone would like to donate to a worthy cause, you can make an impact here.
*Members of the Ehlers-Danlos and Hypermobile Spectrum Disorders community identify themselves as zebras. Initially this was because of the phrase that is taught to medical students throughout their training – “When you hear the sound of hooves, think horses, not zebras” – that is taught to medical students throughout their training.
In medicine, the term “zebra” is used to describe a rare disease or condition and the different types that make up the Ehlers-Danlos syndromes are rare.
The zebra is the perfect mascot for our community. There is not one type of zebra with the same stripes – but when you see a zebra, you know it’s a zebra. There are so many people living with these disorders with different stripes. We have different symptoms, different types, different experiences, but we are working towards a time that when a medical professional sees someone with these symptoms, they know that it is one of the Ehlers-Danlos syndrome or Hypermobile Spectrum Disorders.
Additionally, a group of zebras together is called a dazzle.
Our community is strong and together, we dazzle. – The EDS Society
Very nicely written.
Sent from my iPad
Sorry and happy. I read your post a few days ago, I have way too many of these things. Doc recommends I don’t get tested. Said its beyond obvious and not to have it on my list of pre-existing conditions. They are all there individually though. I didn’t have kids so that’s not an issue like it is for some people. Robert got thrown off Medicaid. Its a complete error. We have to go see a lawyer. It says right on the letter that you can’t be thrown off if you are totally and permanently disabled. He just got re-checked last summer. They (Medicaid) sent new forms, the correct ones, but until they get them back he’s off. They won’t talk to me becaue he’s over 18, he has an ombusedman type person who never answers her phone, I mean never. Just talking about Sophie today.