A Jefferson County mother and daughter want to help get the word out about the mysterious condition they both suffer from.
Amy Dickemper, 39, and her daughter, Bella, 11, both of Crystal City, have been diagnosed with Ehlers-Danlos Syndrome, a genetic disorder of the body’s connective tissue. It is characterized by joint hypermobility, which often results in dislocations, as well as a host of related symptoms.
The severity of the condition varies wildly, even among members of the same family. The common denominator among all EDS patients, though, is chronic pain – and no one knows why.
“We’re not really certain why people whose joints look normal on X-rays hurt like this,” said Dr. Gary Gottesman, professor of pediatrics and medicine at Washington University School of Medicine and Children’s Hospital, who treats the Dickempers.
“There’s just not a great understanding yet of why these individuals have skeletal and joint pain.”
The Dickempers want to change that and received a proclamation from Missouri Gov. Mike Parson naming May as Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Awareness Month.
“The goal is to get the word out about this condition, because most people just don’t know anything about it,” Amy said. “There’s not enough education about it. I read on one of the EDS websites about a doctor who said in their whole time in medical school they only had one two-hour lecture about connective tissue disorders.”
‘My whole body hurt’
Amy was diagnosed in late 2021, after she had spent more than 10 years seeking relief from chronic pain.
“I turned 30 and my whole body hurt,” she said. “I’d always had pain, but it got much worse.”
It all came together for her after she joined an online genealogy site.
“I did an ancestry DNA test, and a second cousin I didn’t know I had messaged me,” she said. “She told me she has EDS and both her children do. I had been diagnosed tentatively with fibromyalgia, but that didn’t really fit. I looked into EDS, and it sounded exactly like me. I have hypermobile joints; a lot of weird allergies, like to adhesives; small fiber neuropathy; resistance to local anesthetics. All of these weird things, and it all kind of fell into place.
“I joined a Facebook group and they were really helpful, were able to point me in the right direction.”
She took her findings to a neurologist, who finally gave her a diagnosis in December. The process worked much more swiftly for her daughter.
“In Bella’s case, she had the three criteria for diagnosis: a relative with EDS, her hypermobility and her pain,” Amy said.
Amy said she has gotten relief through medication.
“I have good pain control, and it’s a godsend,” she said.
Amy said the medication is for adults, so there’s nothing similar to prescribe Bella.
“She gets tired easily. She has trouble with heat. It’s very frustrating. She cries and says, ‘I don’t understand why I’m in pain. It‘s not supposed to hurt all the time.’ And she’s going through puberty, and that makes (EDS symptoms) worse.”
Independence is the goal
Ashleigh Kester, a physical therapist with St. Louis Children’s Hospital, works with Bella to minimize pain through strength training and conditioning.
“As a physical therapist, your goal is to help patients be as functional as possible and to enjoy movement,” she said. “I try to help teach them how to move in ways that aren’t painful.”
Despite her pain, Bella has been in dance since she was a toddler and enjoys cheerleading and volleyball.
“Bella is the kind of girl that nothing is going to stop her,” Kester said. “That plays in her favor. She wanted to do things, and she is finding ways to make it work.
“(EDS) is a diagnosis that makes things more difficult for people, but it doesn’t mean they need to stop doing what they like.”
Therapy helps train Bella to use her muscles to stabilize her joints and minimize the hyperextension that can lead to dislocation.
“Our big abdominal muscles are meant for moving,” Kester explained. “We also have lower abs that are meant more for stabilizing our core and our spine. In our daily life we tend not to work those as much, because the big muscles tend to take over.
“When we first started working those lower abs, I had to poke her and say, ‘This muscle! Right here!’ Now she can do it on her own. You can see the progress she’s made.”
Kester said Bella likely will continue with therapy intermittently in the coming years.
“EDS is a lifelong diagnosis, but it doesn’t mean the patient necessarily has to have PT weekly forever,” she said. “The goal is to teach them to manage their condition on their own.”
The pain is real
A diagnosis of EDS can be elusive.
The National Organization for Rare Disorders says EDS affects an estimated 1 in 5,000 people, and the average time for diagnosis is 10 to 12 years.
“A hallmark of this condition is there’s a lot of variability in how it’s expressed,” Gottesman said. “You can have an adult whose case is mild; then their child’s is very severe. It’s hard to explain why that occurs. There are other moderating genes and proteins and enzymes we don’t really understand.”
The diagnosis can be particularly challenging in children.
“It’s natural for the average child to have some hypermobility in the first decade,” Gottesman said. “So it’s hard to separate out those who are affected unless there’s a known family history. All the symptoms can mimic other things. Joint pain is often attributed to growing pains.”
But early diagnosis of the condition is critical, both for physical and mental reasons, according to medical sources.
“One of the biggest issues we as physicians need to be aware of with EDS is the psychiatric effects,” Gottesman said. “People, especially in their young years, can feel they’re falling apart. They have a lot of anxiety about the next thing that’s going to go wrong.
“Many are treated as though they’re malingerers. They hurt, and you do all the objective things you would do to assess them, like X-rays and blood tests, but then everything looks pretty darn normal.”
But, Gottesman said, it’s important to acknowledge that their pain is real.
“There’s something different about the connective tissue surrounding the nerve endings (in EDS patients),” he said. “It’s not normal, so the feedback is not normal. I feel like it might be something like phantom limb pain, but that’s just a hypothesis.”
Kester said those affected by EDS can lead normal lives, with some modifications.
“Just looking at it from a physiology point of view, there are some things that are going to cause you a bit more pain, carry a bit higher risk of injury,” she said. “You can choose not to do them, or you can choose to let us help you learn how to do them as safely as possible.”
Amy said that is what she hopes for Bella.
“The goal is for her to learn to do things in ways that will keep her safe and healthy so EDS won’t turn into a terrible chronic condition in the future,” she said. “Hopefully, we can minimize arthritis for her; I have it real bad. I just want to give her the most normal life opportunities she can have.”