Most of you know the criteria were revised for EDS this year for the first time in forever. It was important to tighten up the parameters under which a person is diagnosed with EDS given the confusion over differentiating people with more so-called benign general hypermobility from those that appear to fall under the syndrome of EDS. Only some of the genes that cause or contribute to heritable connective tissue disease have been found, and so usage of objective, scientifically arrived at criteria for diagnosis by a specialist is pretty darn important.
You can read the new criteria here.
The difference to me, between someone with hypermobile joints and someone with a more systemic connective tissue disease is big. I want to know that when I see a doctor, he or she understands my bendy joints could mean I also have stretchy blood vessels causing blood pooling in the heart and insufficient blood output. The heart beats fast and blood pressure fights to normalize. There is a higher likelihood of vascular incidents, and diet can also be challenging with reduced motility in the stomach and intestines.
This distinction, in my opinion, doesn’t discount hypermobility that can cause musculoskeletal problems, pain and fatigue. It can be disabling, and these people (myself included if I’ve been misdiagnosed) need support and a medical team that will assist them in having a better quality of life. This distinction between EDS and hypermobility is an important distinction to me as someone who has dealt with neurological, vascular and digestive issues as well. I am grateful to the people who are doing everything they can to improve our healthcare and quality of life. Especially for friends who are dealing with chiari malformation, thought to develop sometimes from instability in the neck.
So, in a couple weeks I’m going to see Dr. Francomano, the geneticist and specialist in Ehlers-Danlos Syndrome who speaks at our yearly conferences and who was a part of updating the criteria for EDS. She’s one of the practitioners who also contributes to finding the genetic markers for these heritable connective tissue diseases. I was on a two year waitlist to see her, and I really want her opinion after the implementation of the new criteria.
My goals in seeing her have been to be directed to the care I need most, to make sure nothing’s been overlooked that can improve my neurological symptoms, and to coordinate a kind of “low-maintenance” future care. I want to be able to live my life without really having to think about this big thing that effects me because I have a few good specialists to turn to if something is interfering with my living.
I want to do everything I can for this, whether it is EDS or turns out to be something else, but my focus will be on ways to help others, writing poetry and maybe trying acting classes again. I completely chickened out last year! I want to live well within these difficulties and maintain joy. I really would like one day to be working in mental healthcare in some capacity again, and I may start working on my masters this year.
There’s a lot that has happened, and there’s still a lot to figure out. And, I never would have had the strengths I’ve developed without this struggle, and in some ways I’m grateful for it and in awe of the resiliency of the human spirit. I cannot help but have hope.