I Spoke to a Leading Expert on Ehlers-Danlos Syndrome. Here Are the Key Takeaways for Our Community.

For the past two years, a group of experts, advocates, and patients have been gathering as an ad hoc committee of the National Academies of Sciences, Engineering, and Medicine (NASM), per the request of the U.S. Social Security Administration (SSA). The culmination of this collaborative and Herculean effort has resulted in a first-of-its-kind publication: “Selected Heritable Disorders of Connective Tissue and Disability,” a consensus study report.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

What does this mean and why am I so excited?

This committee reviewed several heritable disorders of connective tissue (HDCTs), primarily Marfan syndrome and the Ehlers-Danlos syndromes, and created an all-encompassing report about the current state of the diagnosis, treatment, and disease course of the selected conditions. The authors took into account patient experiences, published evidence, and supplied their own expert judgment. One of the major goals of this publication is to make the disability application determination processes for folks with these HDCTs easier.

This means members of our community will finally be able to point to a dedicated publication and say, “Here’s what my condition entails, some of the challenges I face, and how I need you to help me.” Our experiences have always been legitimate. Whether or not they are heard is another story. This book, which will command attention and respect from the medical profession and the federal government, can help there.

Of course, as someone living with Ehlers-Danlos syndrome, I was thrilled to see this publication. I was even more thrilled to have the opportunity to speak with one of the authors of this publication, world-renowned Ehlers-Danlos syndrome expert and neuro-ophthalmologist Dr. Eric Singman, MD, Ph.D., about his journey to becoming an Ehlers-Danlos syndrome expert, why the HDCT consensus study report is important, and ocular and neurological manifestations of EDS. 

And let me tell you, friends, Dr. Singman is definitely someone I’m so thankful to have working on behalf of the HDCT community.

The Journey to Becoming a World-Renowned Expert in Ehlers-Danlos Syndrome

Dr. Singman, whose day job is in the University of Maryland School of Medicine’s Department of Ophthalmology and Visual Science, has been studying the effects of traumatic brain injuries on the visual system for decades. He became interested in studying Ehlers-Danlos syndrome after seeing patients with Chiari malformation (he is a neuro-ophthalmologist, after all), one of whom shared her Ehlers-Danlos syndrome diagnosis and educational resources with Dr. Singman, which set him on a long and fascinating path. As he put it, “Well, [EDS] actually came to me, I didn’t go to it.”

With knowledge of Ehlers-Danlos syndrome in hand, Dr. Singman started asking his concussion and Chiari malformation patients about EDS symptoms, which resonated with a good amount of his patients. He told me that the hardest part of identifying this overlap in his patients was helping them find geneticists who would see them and test them for Ehlers-Danlos syndrome, which is an experience I’m sure many of us with HDCTs can relate to. Once he found a couple of geneticists to whom he could refer his patients, he eventually ended up with 60 or so patients who he was treating for their concussions and had suggested Ehlers-Danlos syndrome, who ended up having their EDS diagnosis confirmed by geneticists.

The key to seeing more and more patients who would eventually be diagnosed with Ehlers-Danlos syndrome? Dr. Singman says it all comes down to respecting and treating patients like the people they are. As he explained, “Unfortunately, a lot of people are treated like, ‘What’s your problem? You look so good, you must be fine, right?’ I didn’t do that.”

After developing relationships with the Ehlers-Danlos syndrome community, Dr. Singman was approached by the EDS Society, which catapulted him into the EDS limelight.

A Publication to Help Folks With HDCTs Receive the Benefits They Need

Dr. Singman has taken the helm on NASM’s vision and concussion research on HDCTs and the disability application process. He told me that the SSA has been seeing an increased number of applications for Social Security Disability Insurance (SSDI) from folks with Ehlers-Danlos syndrome and they frankly didn’t know enough about EDS to make proper determinations. 

As Dr. Singman explained, this book has information that “advocates of EDS patients, whether they’re physicians or attorneys helping to get disability for them … want to know about, because, I think, it will help them better sympathize, if not empathize with what EDS patients bravely go through. And [the book] is certainly something that their doctors are going to have to read … The bottom line with EDS patients is that if you know what they go through [when they] have any kind of health complaint, someone who knows EDS is going to automatically widen their own differential diagnosis … and take the patient that much more seriously. And the book is going to help with that tremendously.”

As far as applying for SSDI goes, Dr. Singman recommends applicants to apply with an attorney: “In my experience, the patients who I’ve worked with who’ve had the most success have started off speaking to a lawyer who knows disability, or at least a social security person who knows disability … because the forms are horrendous.” Dr. Singman also acknowledged the challenges of wading through the chaos that is the SSDI application process while living with chronic illness – whether it be mental or physical. He reiterated that, while a lawyer could make the process a lot more expensive, having a disability attorney on your side could also make the process a lot less frustrating. He explained, “By all means, fill out the paperwork, give it a shot … but if you don’t have a high tolerance for that, or you’re not feeling well, or you need [the benefits] faster … I would probably want somebody on my side who knows the system.”

“It takes a village to treat Ehlers-Danlos syndrome patients.”

The consensus study is, in part, a guide for SSA officers, but, more importantly, it is a publication that can help Ehlers-Danlos syndrome patients, advocates, physicians, attorneys, and anyone else whose life is affected by an HDCT, far beyond the SSA. A major point of emphasis in this study is the importance of coordinated care across a wide range of disciplines in order to provide the best treatment to patients with HDCTs. This treatment is key to improving screening and preventative care. As the authors of the study write, preventative treatment “relies on effective coordination among a team of clinicians across a broad range of physical and mental health care disciplines who are knowledgeable about these disorders.” The authors also acknowledge that access to appropriate care can be difficult, including a lack of provider knowledge and expertise in these conditions as a barrier.

When it comes to sharing this book with your provider, Dr. Singman sees great value in doing the following: “Download the book and say, ‘Do me a favor. Dr. XYZ, I’m an Ehlers-Danlos syndrome patient, I will be coming to see you. Could you please just look this over, this is peer-reviewed information … Please could you familiarize yourself a little bit with EDS, so that we can work better together as a team?”

Trust me, I know it can be difficult to advocate for yourself in a medical setting, but this book could be a great conversation starter. If your provider participates in a patient portal system, send them a quick message, either with the link to the publication or the title of the book. This study is peer-reviewed, which means it has been validated by other experts in the same fields, but who did not author the study. That’s the big ol’ scientific stamp of approval.

What the authors of the study push for is collaboration and community among patients with HDCTs and providers. In our discussion, Dr. Singman noted the desperate need for an Ehlers-Danlos syndrome center of excellence, where there could be specialists, nurses, educators, and advocates all under one roof. He added that “it takes a village to treat EDS patients, just like it takes a village to treat other kinds of disease.”

The importance of community is evident throughout the entire study, with the authors going so far as to write, “Relevant support groups provide valuable education regarding the manifestations and lived experiences of the disorders.”

While we may not see a large, physical Ehlers-Danlos syndrome center of excellence in the near future, Dr. Singman shared that the providers who wrote this book have created a community and plan to keep in touch, in large part to “create a virtual network.” As Dr. Singman enthusiastically elaborated, “Now I have a neurosurgeon who is EDS-savvy who I can point patients to; now I have an anesthesiologist, a pain management specialist, who’s EDS-savvy. Now I have a rheumatologist who’s EDS-savvy, and I’m just loving it, because [now] the hard part is maybe driving to Indiana, but at least it’s someone to talk to.”

I want to say one word to you. Just one word: Prevention!

Another large focus of the HDCT publication is on prevention of complications associated with HDCTs. While there currently aren’t any early childhood screening tools for Ehlers-Danlos syndrome and, aside from the types of EDS that have certain common facial characteristics or kyphoscoliotic manifestations, there aren’t many easily visible signs and symptoms, Dr. Singman recommended being on the lookout for kids who are “particularly gifted at dancing, martial arts, gymnastics, or cheerleading, because they’re so darn flexible.” He doesn’t want children to be deterred from pursuing activities they love, but instead make the child and those around them aware of their higher risk of injury and steer away from any party tricks that involve hyperflexibility. 

Dr. Singman also suggested that kids who demonstrate hyperflexibility be taken to a health care provider to be checked out for HDCTs and start having their health monitored. And while he’d rather not discourage kids from participating in activities, Dr. Singman did say that playing certain contact sports might not be the best idea. As he put it, “hyper-flexible also means hyper-fragile.”

This concern for contact sports goes further than dislocation and wound prevention: “I would love EDS patients to avoid concussion. And that means if you’re going to do something that needs a helmet, please wear the helmet and maybe avoid things that need a helmet, if you can … I would love [EDS patients] to avoid concussion sports.” 

As Dr. Singman explained, “EDS patients get concussions easier and get them worse. I’ve had hundreds of concussion patients, perhaps thousands at this point, and I can tell you that EDS patients just seem to not do as well.”

A Doctor’s Message to Our Mighty Zebras

Dr. Singman, who is genuinely one of the kindest, brilliant, and most humble doctors with whom I’ve ever had the pleasure of speaking, wanted to share the following with our Mighty community:

“I’d like to thank the [EDS community] for putting up with the ignorance that I’ve demonstrated as a physician. You know, I’m 60 years old. And I feel like I should have known this stuff earlier. So accept my apology for not knowing it earlier. And thank you for educating me … When I do a review of systems, I ask the questions taught to me by other EDS patients. I’d like the EDS community to know that there are a lot of doctors out there who are willing to talk with you. And you just have to be brave about saying, ‘Listen, I’d like you to be a little more comfortable knowing about EDS. Maybe before I see you, here’s just an article or two you can read.’”

I think that’s great advice and I look forward to seeing what comes next from this committee! For now, I’ll be sharing the published study with my fellow patients, advocates, caregivers, and all of our providers.

Further Reading

To read online or download a free prepublication copy of “Selected Heritable Disorders of Connective Tissue and Disability,” check out NASM’s website, where you can also pre-order the paperback for $35 (US).

And to learn more about Dr. Eric Singman’s career and his publications, take a look at his Google Scholar profile. (I highly recommend “From Provider to Advocate: The Complexities of Traumatic Brain Injury Prompt the Evolution of Provider Engagement.”)