Teen Manages the Struggles of Hypermobility Spectrum Disorder

After finally getting a diagnosis, Brianna moves on to college, volunteerism

When 19-year-old Brianna wakes up, she often has to reposition her joints. She typically checks shoulders, hips, and knees, to make sure they haven’t moved out of place during sleep and are stable enough to support her getting up.

Some days the San Jose college student doesn’t feel well enough to start the day. In addition to severe joint laxity, she has digestion issues, as well as pain if she did too much the day before.

That’s the reality for many sufferers of hypermobility spectrum disorder (HSD), a little-known condition that causes connective tissues, joints, ligaments, and the sinew connecting muscles to stretch and be overly flexible.

May is HSD Awareness Month, and the Ehlers-Danlos Society is bringing attention to a condition that affects as many as one in 10 people. HSD causes joints to move beyond the normal range of motion. Children with HSD can often appear double-jointed and extremely flexible. HSD is underdiagnosed and often overlooked.

While many children outgrow hyper-flexibility, for HSD sufferers like Brianna, it’s a lifelong challenge. Brianna has had HSD since she was a child, with her symptoms getting worse at about age 11. She didn’t know what was wrong until age 17, when she finally was diagnosed by a Stanford Medicine Children’s Health pediatrician.

Brianna’s parents had taken her to many doctors to seek answers over the years, including gastroenterologists, orthopedists, gynecologists, and other experts. However, there seemed to be no singular diagnosis that could tie her symptoms together.

Connecting the dots to make a diagnosis

One day when feeling particularly poor, Brianna called for a telehealth appointment. Mekhla Varma, MD, a pediatrician with Stanford Medicine Children’s Health – Pediatrics in Los Gatos and new to the practice, was available to see her. As luck would have it, Dr. Varma was deeply interested in connective tissue disorders and HSD, and she suspected that Brianna was a sufferer.

“It’s not unusual to not be diagnosed for years,” says Dr. Varma. “The average diagnosis takes about a decade. That’s because all the symptoms don’t present together. Over time, doctors start connecting the dots. Fortunately, I could use my knowledge of HSD as a special lens to connect her symptoms to this underlying condition.”

“Dr. Varma said to me, ‘Ever hear of HSD?’” recalls Brianna. The teen embraced the diagnosis and worked with Dr. Varma to learn all she could about HSD. As a result, the poised and thoughtful curly-haired teen can speak fluently about the disorder.

“I’ve always had a fascination with scientific articles,” says Brianna, “so reading papers published about my disease is second nature.” Brianna initially wanted to pursue veterinary medicine, but she changed her mind after realizing that being on her feet all day as a veterinarian would be too physically demanding.

Hypermobility spectrum disorder diagnosis

Dr. Varma explained that the symptoms and complications of HSD, including joint problems, can sometimes be overlooked. While a dislocated, strained, or sprained joint is physically obvious, some of the ways the condition affects the body are not readily noticed and can come and go.

Hypermobility was earlier considered to be a part of genetically transmitted disorders, like variants of Ehlers-Danlos Syndrome (EDS) and Marfan syndrome, as well as hypermobile EDS (hEDS), which does not have a known gene yet, but patients had to meet strict criteria to have a diagnosis. Having a separate diagnosis of hypermobility spectrum disorder is helpful in understanding and managing patients who may not meet the strict criteria, which can range from asymptomatic to severely symptomatic, according to Dr. Varma.

In Brianna’s case, she has had surgery for scoliosis, suffers from gastrointestinal issues, and has worked with Dr. Varma on a gluten- and dairy-free diet. “My stomach issues had gotten incredibly bad,” she says. “I was living off of protein drinks, at one point.”

She says she also bruises and injures easily, and wounds take a long time to heal. Her balance and proprioception issues are improving, thanks to physical therapy and a therapist experienced in HSD.

Collaborative care is key

“Working collaboratively with my patients is so important and can really make a difference,” Dr. Varma says. “Brianna is so collaborative. My job was to make her aware of what HSD was about and to give her the skills to manage it well.” Medications, she says, are also helping.

The courageous and determined teen is busy taking college classes online, volunteering at the local zoo, caring for her two cats and dog, going to physical therapy, exercising at home, keeping up with her studies, and spending time with her parents and brother, 17.

“Physical therapy has had one of the biggest impacts on my life,” Brianna says. “I had gone to PT before, but no one knew I was hypermobile, and I was doing my exercises wrong. Finding people that know how HDS works was so helpful.”

She also does modified Pilates exercises at home and walks when she feels up to it, sharing her activity log with Dr. Varma. Several types of leg braces keep her stable when she feels she needs them, and walking on a treadmill at home helps.

Brianna is also learning to give herself grace and not push too hard. “I have a tendency to push myself too hard, and then I have a flare-up and get laid up.”

Having to take classes remotely, she says, has been disappointing, but attending in person was difficult and debilitating. “That was a compromise I had to make; I really like school, and I really like learning. But I’m doing much better physically with online classes.”

She’s grateful to her family for giving her the resources and support to move forward, and especially to Dr. Varma for her care.

Brianna’s advice to others suffering from HSD: “Just keep going. Keep finding things that work for you. It won’t be normal, and it’ll be hard trying new things, but eventually there’ll be something that helps. Even if it just helps a little.”

Dr. Varma agrees. “She’s managing herself really well. As a young adult, she seems to have learned the tools to live her life successfully. Working with your doctor is so important. As a patient, if you’re equally invested in understanding the condition and taking care of yourself, you can make a difference. I feel happy and grateful when patients like Brianna do well.”

Read more about HSD and listen to Dr. Varma’s podcast on “Raising Awareness for Hypermobility Spectrum Disorder.”