When Kaniah Gunter first developed an itchy rash in 2007, she thought maybe it was because of a different detergent or soap.
Later, her eyelids began swelling so severely, she said, that her face looked unrecognizable in the mirror.
Then came the weakness.
The Norfolk mother said she struggled to get out of bed, climb stairs, tie her shoes and even turn a doorknob. She began tripping and falling. Breathing felt harder. Swallowing became painful. Her hair started falling out.
“I always been an athlete in my day,” Gunter said. “Now I wasn’t able to get up and take care of my daughter.”
It would take three years, visits to multiple specialists and an ER hospitalization before she finally got a diagnosis: dermatomyositis, a rare autoimmune disease that attacks the skin, muscles and organs.
It can cause debilitating muscle weakness and severe skin rashes, as well as affect the lungs, heart and gastrointestinal tract. In some cases, dermatomyositis is associated with cancer, said Ruth Ann Vleugels, vice chair of dermatology at Brigham and Women’s Hospital in Boston, where she leads the autoimmune skin disease program.
“Not only are they worried that they have a horrible rash, but they actually have to think, ‘Oh my goodness, I could have horrible muscle disease. I could have a cancer association,’” Vleugels said. “So this is not only highly impactful from a physical standpoint, but also from an emotional standpoint as well.”
Because the disease can involve many parts of the body, patients often see several specialists before getting the correct diagnosis.
The rash may be mistaken for lupus, psoriasis or eczema, while muscle weakness may be ascribed to medications, Vleugels said.
“Because there is this possibility for a rapid decline in patients, we really want to make sure we address this early, not only with appropriate diagnosis, but then, ideally intervening with appropriate therapy early on as well,” Vleugels said.
For Gunter, the search for answers stretched across nearly two decades.
She said she saw a primary care doctor, dermatologist, cardiologist, allergist, eye doctor and neurologist as her symptoms worsened.
In 2010, she had lost a significant amount of weight and was hospitalized with ulcers and swallowing problems. A medical director in the hospital recognized her condition and pushed for a referral to Johns Hopkins in Baltimore.
That December, she said, specialists at the Johns Hopkins Myositis Center finally had a treatment plan.
“That doctor saved my life,” Gunter said.
Because dermatomyositis is rare, many patients struggle to find specialists close to home.
Gunter had to travel to another state for proper diagnosis and treatment. Even today, she still travels out of network for specialty care while receiving some treatments locally.
She said she has met several patients in Hampton Roads, but most are scattered and do not have a local support group and are often traveling outside the region for treatment.
“We did not have a brochure when I first was seen. I walked away with empty hands,” Gunter said. “I truly believe our local community needs the resources.”
She found support through national rare disease and myositis organizations and has taken it upon herself to be that resource she didn’t have 15 years ago.
Today, she leads a nutrition coaching program locally in Hampton Roads and connects patients with brochures, financial assistance information and national resources.
There is currently no cure for dermatomyositis, but physicians are watching closely as a new targeted drug moves through the FDA review process.
That drug recently showed promising results in an international clinical trial. Vleugels said the therapy could offer a more specific way to control the disease than many existing treatments.
Patients with dermatomyositis are often treated with steroids such as prednisone, which can help control inflammation but can also cause serious side effects, such as weight gain, diabetes, high blood pressure, bone damage and vision problems, Vleugels said.
If approved, Vleugels said the drug could be significant not only because it improved both skin and muscle symptoms in trials, but also because patients were able to reduce their reliance on steroids.
The FDA has accepted the drug’s application and granted it priority review. If approved, the drug will be the first targeted therapy for dermatomyositis.
