Today was a hard day. I went to the geneticist to formalize my “provisional clinical diagnosis” of EDS. It didn’t really work out like I’d spent the last four months hoping.
I come from “humble beginnings.” We always had medical insurance from the state, my mom was disabled but I didn’t know why as a kid and turns out she didn’t really know why for a long time. People don’t realize that sort of upbringing means fighting hard for appointments, treatments, diagnosises. You don’t get surgeries or new clinical trial treatments. You get whatever that doctor, who is so bogged down with patients, has the time to tell you.
My mom for years struggled with health problems. I did as a child too. So did my brother and little sister. Doctors wrote us all off. Except my mom had things that would show up on scans, like degenerating discs. She was always in pain. She didn’t get diagnosed with hEDS until she was almost 40. No one ever told her she needed a formal diagnosis from a geneticist, though no one really questioned hers.
Today, I found that coming from poverty means, for someone like me who needs to show “positive family history,” there’s a huge hurdle. My doctors don’t believe my mom or brother have it because I don’t have proof other than them telling me they were diagnosed.
I guess though, since she was diagnosed before the changed the criteria, her diagnosis doesn’t count as positive family history even if I had a paper saying she had it. She doesn’t have the ability or resources to seek out a new evaluation for me.
I brought my provisional diagnosis based on the new criteria, diagnosed by my rheumatologist. The geneticist started out telling me I might not really have EDS. She then did the exam and said my skin wasn’t stretchy enough, but I was Hypermobile so I was “on the border.” She said I needed to give her proof. My brother was diagnosed with hEDS last year, but he didn’t have any paperwork to give me. He said no one ever questioned his diagnosis, but his skin doesn’t lie. And today, my hands were puffy and swollen so my skin didn’t stretch.
My brother said he’ll get it for me. But until then this woman stripped away the only answer I had, an answer that’s taken years to obtain, an answer I got only a few short months ago from a doctor whom I respected and thought was very intelligent.
I never even knew I was Hypermobile. I thought since my mom was more I was not. But the pain, the joint problems, the fact I can hardly use my hands or do things like my hair and makeup... the migraines the left sided abdominal pain that no one can explain to me. These things didn’t matter to her. She just took away the diagnosis.
I’ll bring her the proof when my brother provides it. Til then I’ll twiddle my thumbs. She suggested seeking pain management but if no one believes I have pain how can I do that? I feel defeated. But I won’t give up, no matter the hurdle.
#EDS #Hypermobility #Pain #Diagnosis #frustrating