A young Alabama woman with a rare disorder that leaves her body literally as stiff as a board is the first Fred Hutchinson Cancer Research Center patient to receive a stem cell transplant in hopes of helping — if not curing — her devastating condition.
Sallie Rhodes, 26, was diagnosed more than a year ago with Stiff Person Syndrome, or SPS, an oddly named neurological autoimmune disease that strikes about one in every million people worldwide and leaves some sufferers so rigid they can’t walk or move on their own.
It’s a bizarre disease in which severe muscle contractions can be triggered by loud noises or sudden scares, sending victims crashing to the ground, unable to break the fall. Rhodes has suffered concussions, cuts and other injuries after what she calls “lock-ups” — searing spasms that make her legs stiff, her head and neck rigid, the muscles in her torso so tense she can barely breathe.
“I just get totally locked,” said Rhodes, who lives in Montgomery, Alabama. “My dad and brother will pick me up by my ankles and shoulders and I’m like a board. They’ll pick me up to put me on the bed and I don’t sag like a normal person would.”
Rhodes has been sick for more than two years with symptoms that stumped doctors who originally suspected ailments ranging from meningitis to Rocky Mountain spotted fever. Before that, she was a normal, happy young woman with an apartment, roommates, a passion for jogging and a good job as a pediatric nurse. But she contracted a severe and unexplained virus at age 24 and hasn’t been the same since.
“Basically, my life has been turned upside down,” said Rhodes, who now lives with her parents and can’t be left alone. “I’ve missed out on a whole lot of things. I’ve missed out on weddings, events with friends. I’ve definitely lost friends, lost my job, lost so much.”
SPS typically strikes in adulthood at an average age of 40, though it’s been known to occur in people from their mid-20s to late 50s. Treatment for SPS consists mostly of massive amounts of muscle relaxers, pain relievers, and anti-anxiety and anti-seizure drugs. Rhodes also was treated for several months with plasma exchange, or PLEX, a process of replacing plasma in the blood with protein fluid.
But nothing helped for long and Sallie Rhodes’ condition continued to deteriorate. Desperate for answers, her mother, Carrie Rhodes, 55, started researching other potential treatment options for SPS.
She learned that some SPS patients benefitted from stem cell treatments that used high-dose chemotherapy and implants of the patients’ own cells to reboot their immune systems and reverse the worst symptoms of the disease.
Such transplants have been used in just a few patients, including two women in Ottawa, Canada, with severe SPS whose cases were chronicled in a recent issue of JAMA Neurology. Those women are both in clinical remission now, back to work — even skiing — at more than two and four years after their transplants.
But the treatment is still highly experimental — and typically not covered by health insurance. In Sallie Rhodes’ case, her policy said specifically that stem cell transplants for autoimmune conditions weren’t included. However, officials with Blue Cross and Blue Shield of Alabama made an exception and approved the procedure.
Bernie McLaughlin, a nurse with the Fred Hutch program, said several other SPS patients are good candidates for transplants in Seattle, but they face roadblocks from insurers who won’t pay for the procedures.
“We are happy we had the option to do it,” Carrie Rhodes said. “Otherwise we would have had to show up in Seattle with $450,000.”
The family had settled on Fred Hutch because of the center’s vast experience founding and performing bone marrow transplants, Carrie Rhodes said. They applied for — and were accepted into — an ongoing clinical trial testing the efficacy of the transplants in people diagnosed with more than a dozen neurological autoimmune diseases that did not respond to conventional therapy.
In May, the Rhodes family loaded into a medical motor home — Sallie’s condition prevents her from flying — and drove 2,600 miles from Montgomery to Seattle for a three-month stint as the first SPS patient to receive an autologous hematopoietic stem cell transplant, or auto-HSCT, at Fred Hutch. Everyone was anxious and excited, including not only Sallie and her mom, but dad Spears Rhodes, 55, and her 22-year-old brother, also named Spears.
The auto-HSCT study is led by Dr. George Georges, a Fred Hutch physician who is using the procedure to treat patients with rare or recalcitrant diseases who’ve exhausted other options.
In Rhodes’ case, the idea was that the transplant could disrupt SPS, which seems to be linked to high levels of an antibody that attacks glutamic acid decarboxylase, or GAD, an enzyme involved in the synthesis of gamma-aminobutyric acid, or GABA, which is directly responsible for regulation of muscle tone.
“The antibody to the GABA-ergic neurons probably interferes with the normal process of muscle relaxation after contraction,” explained Georges. In other words, the muscles stay painfully rigid.
Georges cautioned that even among SPS patients, Rhodes’ symptoms were very severe.
“She was so disabled,” he said. “This patient was more stiff and more debilitated than the patients in Ottawa.”
Simply getting through the mechanics of the May 5 transplant was a challenge, Georges said. Doctors were worried that Rhodes’ condition was so severe that muscle spasms could stop her breathing, or that she’d be nauseous from chemotherapy and unable to keep from choking on her own vomit.
But the transplant performed at the University of Washington Medical Center, with follow-up at Seattle Cancer Care Alliance, was a success.
More than five months later, Rhodes’ SPS symptoms are much better, both she and Georges agree. Her upper-body motion is much improved, and her spasms are less frequent and severe when they do occur.
“She’s done incredibly well, better than I thought she would,” Georges said.
But Rhodes and her family say the improvement hasn’t been quite as dramatic as they anticipated. She’s never entirely stopped having spasms, including episodes severe enough to send her regularly to the emergency room.
“They had told me it was totally experimental. It may get better, it may not get better, who knows?” Rhodes recalled.
Additional plasma exchange has helped, likely by removing the anti-GAD antibodies from her blood. But the effects last for just weeks, at most, and the procedures are invasive, expensive – and not covered by Rhodes’ health insurance.
Just this month, Rhodes underwent surgery to remove her thymus, an organ that loses most of its function by adolescence but sometimes regrows in adults treated with chemotherapy. The surgery went well, but afterward, Rhodes’ father accidentally bumped some medical equipment, causing it to crash noisily to the floor.
Within minutes, Sallie Rhodes was in full spasm — and she’s had several more episodes since, Carries Rhodes said.
Mother and daughter both admit they’re disappointed that Sallie’s condition hasn’t improved faster.
“I just went through this treatment and I wanted to see some sort of positive effect,” Sallie Rhodes said. “I did, my upper body has changed fantastically. But I was discouraged. I was disappointed because I’m so debilitated by this condition.”
Georges said he understands and feels compassion for the family’s reaction. With such an experimental therapy, it can take time for full improvements to take effect. In the Ottawa cases, the patients improved gradually over a period of three years after their transplants.
That’s mostly because it takes time for the antibody to leave the system, he added.
“She has experienced some improvement and we anticipate — we hope — that she will experience further improvement, reduction in SPS symptoms over the next two to three years,” he said.
For now, that leaves Sallie Rhodes and her family to cope daily with the demands of the devastating disease. She said she wants to increase awareness about Stiff Person Syndrome in hopes of raising money that could lead to research-based cures.
In the meantime, Rhodes said she’s relying on her Christian faith to glean a larger lesson from her sudden and bizarre illness.
“I see the amount of people lifting me up in prayer and supporting me,” she said. “I’ve gained strength in the Lord and an entirely new outlook on life.”
JoNel Aleccia is a former staff writer at Fred Hutchinson Cancer Research Center. From 2008 to 2014, she was a national health reporter for NBC News and msnbc.com. Before that, she was a reporter, editor and columnist for more than two decades at newspapers in the Northwest. Reach her at firstname.lastname@example.org.