Improving the Lives of Those Living with Ehlers-Danlos Syndrome
Chronic pain, stretchy skin, and joints that easily dislocate – these are just a few of the symptoms that people with Ehlers-Danlos syndrome (EDS), a genetic connective tissue disorder, face daily.
“Joint hypermobility is one of the more common symptoms that people describe, while others may easily bruise or have tearing of the skin,” said Dr. Eric Rush, clinical geneticist at Children’s Mercy.
EDS is considered rare – only 1 out of every 5,000 people are diagnosed, but Dr. Rush, argues that number is conservative, “Nobody really knows because it’s clear the medical community is underdiagnosing the disease. I would hazard that this one class of genetic conditions is more common than all the other genetic conditions we see combined.”
Diagnosing the disease can be difficult for several reasons. Many physicians simply aren’t familiar with EDS as a disorder because it is rare and there are 13 different subtypes that range in severity.
Many times, patients are bounced around, sometimes for years, until a diagnosis is discovered - often being misdiagnosed as having an autoimmune disease due to the multisystem concerns expressed by patients and families.
“A lot of these kids end up in rheumatology because they've seen so many doctors in so many different subspecialties and there’s nowhere else to turn,” said Dr. Jordan Jones, Rheumatologist at Children’s Mercy. “They’re tired, frustrated and it’s just another box to check.”
People with EDS may present with a wide range of symptoms, however, it is an inherited condition and family history can provide important clues to finding answers.
“Sometimes we’re able to determine the presence or absence of EDS based on physical examination and family history alone,” said Dr. Rush. “In patients where it’s not as obvious, genetic testing can help either make a diagnosis or rule out EDS.”
A diagnosis can mean validation for many families, something Dr. Jones has witnessed many times, “It’s like a weight has been lifted. Parents will say they knew something was going on with their child and are relieved to finally have answers. Some parents have even told me they’ve been dealing with similar symptoms their entire life, but have never heard of EDS.”
Living with EDS
Living with EDS isn’t easy. Dr. Jones said it’s not uncommon for kids to miss school or stop playing sports and participating in other activities they once loved due to the pain.
Symptom flair ups are frequently seen and can be triggered by stress or an illness, “It can quickly become a vicious cycle,” said Dr. Jones. “A patient will have bouts of pain, which can trigger anxiety and poor mood, which can cause the person to withdraw from others or things they enjoy. That in turn can cause insomnia, more pain, more depressed mood, and each symptom plays off each other, which can lead to overall worsening health.”
Dr. Rush says quality of life can vary significantly, “Some patients have a quality of life that is reasonably good, while others haven’t had a consistent approach to their care.”
Providing a Home for Patients
To help provide support and the treatment patients need, Drs. Jones, Rush, Malloy-Walton and Black, spearheaded the EDS Clinic at Children’s Mercy, which is now offered once a month and designed to improve care.
During clinic, patients are seen by a geneticist, cardiologist, rheumatologist, physical therapist, pain psychologist, social worker, research coordinator and nurse coordinator all on the same day.
Patients will likely be seen in clinic every 6-12 months.
“The goal is to see these kids, provide a diagnosis, set up care, get them on the right track so they can successfully be managed by their primary doctors until they come back for a follow-up,” said Dr. Jones.
Dr. Rush added that the clinic allows for more specialized care, “We’ve all been seeing these patients in our own clinical spaces. Now we see and treat the patient together, which allows us to work in our own area of expertise and maximize our utility as a specialist.”
This clinic is a first-of-its-kind in the region, which offers multi-disciplinary collaborative care, support to families, education and research – a component that Dr. Rush said was important to incorporate from day one, “We’re working in collaboration with the Genome Center and we hope to identify forms of EDS in which genetic causes have yet to be identified. The second thing we’re doing is really understanding the natural history of this disease process and what it means to take optimal care of people with this condition.”
Improving the Quality of Life
In the end, it’s about helping improve the lives of those living with EDS.
“We've heard the patients – they asked for a place where they can come and feel like they’re not alone, and that’s what we want to provide for them,” said Dr. Jones. “A place that will help them navigate the health care system and provide education and excellent care.”
Dr. Rush said there’s a lot of excitement from those involved with the clinic, “We think it's something special and a meaningful experience that will help make the lives of these kids better, which is really what this is all about.”
Learn more about the Genetics Clinic at Children's Mercy.