Rare disease sufferer to hold awareness event

If you’ve never heard of stiff person syndrome, you’re far from alone. The neurological disorder — characterized by progressively stiffening muscles and intermittent, painful spasms — affects about one in 1 million people, according to an estimate cited by the Nation Organization for Rare Disorders.

One of them is Kenai resident Holly Ward, who is organizing a gathering today to raise awareness of those like her who suffer from medical problems few know of, which few doctors have experience treating or diagnosing, few researchers dedicate themselves to studying, and few insurance companies are eager to pay for.

The National Organization for Rare Disorders promotes Rare Disease Day every year on the last day of February. Ward, diagnosed recently with stiff person syndrome, will host the local event from 12 p.m to 4 p.m at Kenai Sports and Family Chiropractic, where she will give out information, hold raffles, and accept donations for a local rare-disease advocacy group she plans to form.

Ward’s experience as a rare-disease sufferer began on April 23, 2016, when she left her work early because of pain in her arm. The sudden, intense pain drove her to the Central Peninsula Hospital’s emergency room.

“They sent me to my doctor’s office, and I started having spasms just out of the blue,” Ward said. “No one could figure out what was going on. We thought I had MS (multiple sclerosis) or ALS (amyotrophic lateral sclerosis). We kept doing a bunch of tests, because I couldn’t walk for two weeks. Normal things people will try to do are giving you muscle relaxers, but it wasn’t working. We had to do a lot of research and digging around to figure out what was going on. … It was months of MRIs and CAT scans and I had x-rays done, a blood test. A lot of the symptoms I had, we found MS had a lot of the symptoms, but I was lacking the lesions in my brain — there were significant differences.”

Chiropractor Dr. Joe Keith of Kenai Sports and Family Chiropractic is a friend of Ward’s, who had treated her previously. He and Dr. Lynn Carlson of the Kenai Medicenter referred her to neurological specialists in Anchorage. Keith said most interpreted Ward’s pain as a stress-related issue before one, Dr. David Roberts of the Alaska Neurology Center (whom Keith said had encountered stiff person syndrome before), diagnosed her condition.

“We did a couple of tests, and he said ‘you’re going to want to look this up — it looks like you have stiff person syndrome,’” Ward said. “At the time I had my own ideas of what I could possibly have and didn’t really look into stiff person syndrome right away. It took me like a week, and then I was like ‘this is everything I have.’”

Though some researchers believe stiff person syndrome is an autoimmune disorder — in which a body’s immune system attacks healthy tissue — its exact causes are unknown. In Ward’s case, there was at least one definite complication: she was pregnant. This made her a rare case of a rare disease, ruling out some treatment options and requiring adjustments to others.

A few weeks ago, a doctor at the Kenai Medicenter gave Ward the first round of a new treatment — transfusions of treated blood plasma — that she hopes will put stiff person syndrome into remission. The Kenai Medicenter hasn’t performed these treatments before, she said, and modifications to deal with her pregnancy make them even more unusual. Ward’s insurance company considers the treatments experimental. Because of this, her insurance has approved payment for only one of the three transfusions Ward’s doctor believes she needs. Ward said she is working with the insurance company to get the others approved.

Keith said insurance issues are one example of how many medical establishments may be ill-equipped to deal with rare disease.

“Insurance companies are nowhere near being prepared to deal with rare diseases,” Keith said. “Hospitals, depending on where they are — especially down south and in more specialized areas — they can have much better portals for patients exhibiting rare diseases. As far as the basic family practice, not every practice is set up to deal with these people. And hopefully that’s where they’ll realize something is off and send them to a specialist.”

Keith said Ward’s experience being diagnosed with a rare disease was not normal. Rare-diseases sufferers more usually spend years being misdiagnosed. A 2010 survey by the United Kingdom-based charity Rare Disease UK found that 20 percent of the 600 rare-disease victims it surveyed had been studied for five years or more before getting a correct diagnosis.

The rarity of rare diseases makes them difficult to deal with in any systematic way, Keith said.

“When it comes down to it, it’s each and every doctor’s responsibility when they have a patient come through the door with rare symptoms to have a specialist to send them to, or at least to have a realm in the medical field to shuffle them into so they get the right diagnosis,” Keith said. “Especially at the family practice level. But there’s no real systematic way where you can filter them through and spit them out in the area where they have their diagnosis. It’s going to have to come to down to having each and every doctor knowing how to identify these conditions.”

Ward plans to use the funds raised at Tuesday’s event to establish a rare-disease advocacy group of her own. Among her plans are a website with information about stiff person syndrome, highlighting opportunities for patient funding. One target of her awareness-raising campaign, she said, is doctors.

“I’m hoping in Alaska there’s a community out there in the medical field who are willing to step out of their normal days and be like ‘hey, let’s do something to help these people — what can we do to be more ready clinically and medically for them?’” Ward said. “Because more than half the time people go to the hospital for their rare diseases and disorders, and they don’t know how to serve them so they can live a healthy life.”

Reach Ben Boettger at ben.boettger@peninsulaclarion.com.

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