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Testifying in Support of a Bill to Create a Rare Disease Council

Giving my testimony in support of Massachusetts House Bill 3714 (to create a Rare Disease Council) was one of my favorite things that I’ve done so far. With a few other people, I got to read my story in front of the Joint Committee on Public Health and the over 100 people in the hearing room. I’ve included the text at the end of this post and you can watch the whole thing here or below, it’s about 10 minutes. I heard about the opportunity at the last minute, literally a day and a half before the hearing, and decided I was going to make it work no matter what I had to do. I wrote my testimony, which was hard because I was already exhausted, and made it to the State House the next day.

I had no idea what I was getting into. When I rolled (in a wheelchair this time – no more collapsing in public!) into the State House, I was shocked at the amount of people milling around. Apparently it was some sort of public health day, and when I got to the hearing room there were well over 100 people there. And everyone was really dressed up, all the men in suits, and I felt like a grubby punk in my jeans and boots. I wanted to shrink into the floor. I do know better, too, I was just in such a rush that I just put on whatever was at hand. I didn’t expect everyone to be quite so dressed up, though, because they weren’t in my previous visits. And I had no idea there would be so many people there!

Julie, Rep. Paul Heroux, Sandi, and me

Representative Paul Heroux, the bill’s sponsor, spoke alongside our group, which was Julie from Rare New England, and Sandi, another EDS patient. My friend Christina also wrote and submitted her testimony but couldn’t be there in person. I hadn’t met any of them before, but we did get to talk and get to know each other for a while after, which was great. I read my testimony, and it must have made an impact, because at least four people came up to me during the next couples hours and thanked me, telling me it was very powerful. Since I was worried it wasn’t good enough, I was relieved to hear that. I was also very happy that there were so many people in the room (all waiting for the chance to speak in support of various other public health bills), because now they too got to hear about the challenges EDS and other rare disease patients face. Every extra person that hears about this increases the chance that someone else will get a proper diagnosis and treatment who might not have otherwise.

If you want to support the bill, you can email Representative Kate Hogan, the House Chair of the committee (she’s the main person who can convince the House to pass the bill) at Kate.Hogan@mahouse.com.

My Testimony in Support of MA House Bill 3714

My name is Jordan. I am 31 and live with my husband in Somerville. I have Ehlers-Danlos Syndrome and several comorbid conditions. I have had health problems my whole life, but I became permanently disabled in 2012, when my digestive system basically stopped working. I went from an active cross-country runner with a career, working in IT on Beacon Street, to being unable to eat, in and out of the hospital, basically housebound with severe pain, fatigue and weakness. I was diagnosed with gastroparesis and within 2 years, due to severe weight loss and malnutrition, I had to have a feeding tube surgically placed, which saved my life.

I regained most of the weight I had lost and became stronger, but I still had a list of unexplained symptoms, and was sure there was an overarching condition that was causing all of it, including my digestive problems. After a lot of research, I read about EDS and immediately knew that was what was I had. However, when I asked my (now ex) primary care about it, she wouldn’t refer me to a geneticist and told me I was wasting my time because “even if you did have that there’s nothing that can be done about it.” She was wrong.

I found a new primary care, who did send me to a geneticist, who diagnosed me with EDS and told me I had “walked out of a textbook.” I was so relieved to finally have an answer to a lifetime of health issues, but I am still upset that I have had to fight every step of the way for a correct diagnosis and proper treatment.

I had started asking doctors about my seemingly random symptoms and frequent injuries at a very young age, but the dots were never connected. I asked my pediatrician about my hypermobile joints as a preteen. She told me I was just double jointed and that it was nothing to worry about, so I never mentioned it again. No other doctor, even when I became desperately ill and was literally starving to death, asked me about this hallmark symptom of EDS. It never occurred to me that being double jointed could have been connected to my digestive system failing, so I never volunteered the information.

This is why it’s so important to have awareness for rare diseases – if doctors don’t recognize them, or even know what questions to ask, patients will not be diagnosed and treated. The medical community desperately needs better education on how to recognize and treat rare diseases. If just one of my doctors had thought to ask a few simple questions, I could have avoided years of intense pain and suffering, to say nothing of the mental anguish I went through by having so many doctors not believe me. I can’t tell you how many doctors insisted I had an eating disorder or was a drug-seeker or mentally ill. In severe pain, I was turned away from pain clinics in Boston on four separate occasions, and I’m extremely blessed to have one doctor who now helps me with my pain management. Laws are being passed every day that restrict access to the opioids that many of us need to deal with our severe chronic pain, but nobody is speaking up on our behalf. One of my main hopes for the Council is that it will help fight for patients’ rights and put a stop to patients being treated like they are crazy, liars or addicts.

I do as much advocacy and awareness work as I can, but my health severely limits this. A Rare Disease Council could speak for many patients like me, and hopefully save other patients from going through what I went through. Please help all of us by passing this bill. Thank you.

 

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