Hypermobile Ehlers-Danlos Syndrome
The first time I heard about EDS was when I was getting my POTS work-up from my electrophysiologist. He knew it was co-morbid with POTS and sent me to a renowned geneticist in Dallas, Dr. Wilson.
He took a family history.
My mother is known to bruise easily, but she is also one of the most industrious, fatigue-resistant persons that I know. I’ve never heard her complain of pain when I was younger, but she has now since had her shoulder and knee replaced.
Then, there is my sister, the life-long ballerina. She attributes her flexibility to the fact that she stayed in dance and took care of her body. However, she used to have terrible nosebleeds as a teenager and pass out often.
I’m pretty certain my brother has Marfan’s Syndrome (a relative to EDS), but he has a different father who has many tall, lanky people in the family. My sister also shares the same father as my brother.
My dad – he was not one to complain much. I did find out later he had degenerative disc disease like me, but I didn’t know that at the time. He had rosacea and prominent ears, as well. However, he was muscular. With unstable joints, it helps to stabilize those joints with strong surrounding muscles, so it’s possible this gave him an advantage. I will never know, though, as he passed away from cancer five years ago.
Next, Dr. Wilson started testing my flexibility according to the Beighton Scale, the tool used to diagnose hypermobility and hEDS. He took my thumb and proceeded to touch my forearm with it. I joked that I had NO idea it could do that. The other thumb could not, however. And that is the thing about faulty collagen. It is hit or miss where it will affect you. I did end up scoring a 7/9 on the scale, but greater than or equal to 5/9 is diagnostic.
I told him that my shoulders often pop when I roll them. I have trouble using them during activities like rowing, because I get intense pain. My ankles and knees pop, as well. I have never had a joint completely displace, but it doesn’t have to. Subluxations are also diagnostic, which means the joint moves slightly out of place, but does not stay that way. It does prematurely wear down the joints, though, which is what causes the widespread pain common in EDS. Many times, people will see a rheumatologist who will diagnose them with fibromyalgia, when the real issue is EDS-associated pain.
Finally, at the end, I was diagnosed with Hypermobile EDS. While this condition is thought to be one of the underlying genetic components for the many co-morbidities, it was definitely not the last diagnosis I would receive.