Hypermobile Ehler-Danlos Syndrome is a genetic connective tissue disorder that impacts mostly women.
In the Northwoods, it’s a chronically misdiagnosed condition that many physicians have little experience with.
“A few years back, my dad told me that if he ever retired, nobody would take his patients… And so he was really fretting about retiring and delaying it, because his patients would just be totally out of care.”
David Harris comes from a family of physicians.
His dad, Dr. Jim Harris, is a board-certified doctor in Allergy and Immunology based in South Bend, Indiana, and his sister works with pain in Physical Medicine and Rehabilitation.
“Many of his patients with pain would go see her and then they, you know, noticed that overlap,” he explained.
Over time, his dad developed a large base of patients with chronic, difficult-to-diagnose conditions, including Ehler-Danlos Syndrome or EDS, Mast-Cell Activation Syndrome or MCAS, Postural Orthostatic Tachycardia Syndrome or POTS, and, more recently, long COVID.
For all these conditions, symptoms can’t be easily measured, there’s no standout genetic marker, and physicians mostly have to rely on self reported experiences.
“So that makes it very hard to include within our insurance-based evidence-based medical system, where doctors want to test to prove that you have this condition. And so, after about a year of just talking to hundreds of patients, I realized the only thing that would really move the needle for people is if we actually provide better access to care,” he explained.
David Harris started his own clinic, the EDS clinic, a telehealth organization that helps people get the right diagnosis and treatment from providers with experience treating the condition.
This kind of service could be a lifesaver for patients stranded in care deserts.
Diane Lechner is familiar with having a lack of care options.
Lechner, who grew up in Weston, was a strong athlete as a teenager, starting off in gymnastics and then trying basketball and volleyball, but she started experiencing chronic pain.
Then, the migraines, GI issues, and fainting episodes came along.
“I felt like I was just too young to have all of that I had,” she said.
She studied to become an occupational therapist, desperate to find some answers to her own health questions along the way.
She also started working with a team of doctors at Marshfield Clinic in Marshfield, who thought it was psychosomatic.
“And eventually, I did have a couple of doctors who said, you know, you really just need to work with a psychologist here and come to accept you have a chronic pain condition, and it's manifested, you know, through your mind and you're basically not going to ever get better unless you deal with their mind,” said Lechner.
It took years before she finally found the right name for her condition.
When she was 35, she came across an article by Dr. Alan Pocinki, an expert in joint hypermobility and sleep disorders.
“He's talking about hypermobility syndromes and all of these manifestations, and I keep reading about this and about page five, I am like ‘I have every single one of the things he's talking about here,’” said Lechner.
It took another 2 years and battles with her insurance before she was finally seen by a specialist through the UW system and diagnosed with Hypermobile Ehler-Danlos Syndrome, a genetic connective tissue disorder.
Later, she also went to the Mayo Clinic where she was diagnosed with Postural Orthostatic Tachycardia Syndrome, or POTS, a common comorbid condition characterized by dizziness, fainting, heart palpitations, and more.
Dr. Dacre Knight is the Medical Director of the Ehler-Danlos Syndrome Clinic at Mayo Clinic.
He said that he’s heard Lechner’s story many times, unfortunately.
Dr. Knight stressed that hypermobility disorders like HEDS won’t get better over time without proper treatment.
“Patients are often told that this is just in their head. Unfortunately, as much awareness is being brought in these conditions, there's still a very large gap in understanding in the medical community about how to effectively make these diagnoses and treat them.” said Dr. Knight.
A 2023 study found that participants had spent an average of over 10 years searching for their HEDS diagnosis.
It’s exceedingly common to be dismissed as psychosomatic, which in and of itself can also lead to anxiety.
“Someone's misdiagnosed, told it’s anxiety, then that gives them anxiety, and then you know all this stress just mounts, and then all of these other symptoms just get worse with time. So it can be very problematic,” he explained.
In a 2022 study, 67% of respondents said their medical needs were not being met and 87% reported interest in a multidisciplinary clinic for EDS.
This is where David Harris’s EDS Clinic comes in.
Traveling miles to meet a specialist can be too much for people dealing with chronic debilitating health issues, but for those who have access to devices and internet access, telehealth provides an alternative.
Telehealth technology has improved vastly with investments since 2020.
Still, Harris notes that appointments are sometimes limited by the fact they’re not in person.
“Sometimes there's information you can't really describe. Or you might not notice on a video, especially if it's bad quality, like if a patient has hives but doesn't talk about how they have this itchy rash,” he said.
In virtual physical therapy, providers can’t manipulate their patients, but they can still supervise exercises and work on patient education.
An independent evaluation from the Peterson Health Technology Institute found that virtual musculoskeletal therapy, when guided by a physical therapist, delivers clinically meaningful improvements in pain and function.
He said that so far, they’ve been able to provide a lot of care to people who otherwise wouldn’t be able to access it.
“Right now, there's so many people out there who have been told by their doctors, by their family, even, that their symptoms are crazy, or made up or that they themselves, the patient is crazy. It's really sad, because not only are the symptoms not in their head, but there's also treatment options for it,” said Harris.
He says that he hopes they can reach people suffering without support and provide new hope.
