Woman with same condition as Celine Dion describes life with stiff person syndrome

New mom Alison Lafferty is thrilled that a documentary featuring the most famous person with stiff person syndrome is about to debut. “I Am: Celine Dion” will stream on Amazon Prime starting June 25. Lafferty and her small network of friends with stiff person syndrome will be watching closely. It’s a chance for the world to understand more fully the rare, debilitating condition they’re living with.

Lafferty’s experience with the syndrome began in 2021. “I was a teacher. I had moved to South Carolina and got my first teaching job in Allendale near Beaufort. I had gotten married to my husband. I was coaching volleyball at the school,” she said.

“And then one day, I was sitting at my desk, and I couldn't get up. I couldn't use my legs. And I had to call one of my teacher friends and say, ‘I need you to help me get up and see if I can walk.’ And luckily, I could. But that's when I really realized that something was wrong. It was terrifying because it's like being stuck. I felt like I was tied down.”

 

Testing showed she had a condition she’d never heard of, one that affects about one or two in a million people. Her local doctor gave her the news. “He said, ‘I don't have the capacity to treat you, so I'm going to refer you to MUSC.’”

At MUSC Health, the medical arm of the state’s only comprehensive academic health system, Lafferty found doctors with expertise in treating stiff person syndrome. Gina Perez Giraldo, M.D., described the condition. “It’s a progressive central nervous system disorder, which is heterogeneous in presentation but unified by clinical and electrophysiologic evidence of central nervous system hyperexcitability,” the neurologist said.

“It’s characterized by stiffness. The cause is not completely clear. It’s generally associated with antibodies, with the GAD antibody being the most common one found.”

Doctors diagnose stiff person syndrome by measuring the level of GAD, or glutamic acid decarboxylase, antibodies. It’s a marker of diabetes at a lower level and of stiff person syndrome when it measures about 10 times above the range for diabetes.

Once the syndrome kicks in, it can take a heavy toll. The National Institute of Neurological Disorders and Stroke says symptoms include stiff muscles in the torso, arms and legs. Noise, touch and emotional distress can trigger muscle spasms. It can leave people hunched over and sometimes unable to walk or move easily. They may be susceptible to falling without the reflexes to protect themselves.

Perez Giraldo said there is no cure, but there are ways to make patients more comfortable. “It’s treated with benzodiazepines, muscle relaxers and immunotherapy.” 

Dion, the Canadian singer, has talked about needing a heavy dose of Valium to be able to perform. The Grammy winner said she got off the medication during the pandemic, which caused her symptoms to get worse. She’s still dealing with the disease, which is progressive and affects more women than men. But Dion’s willingness to talk publicly about the condition is an inspiration to Lafferty. 

 

Lafferty’s battle, out of the spotlight but difficult as well, has involved neurologists and experts in the Movement Disorders Program at MUSC Health. She’s received IVIG, or intravenous immunoglobulin infusions. “That helped immensely,” she said.

Lafferty recently moved with her husband, who’s in the military, to Nevada. But she credits MUSC Health with getting her on the right track. One of her former doctors, neurologist Andrew Keegan, M.D., is glad to hear about her progress. "It's encouraging to find a combination of medications that can stabilize the disease and help the patient maintain a quality of life,” he said.

Lafferty has also become an advocate for others with her condition, developing a small network of friends around the world who also have stiff person syndrome. “They're all at different spectrums of the disease. But they are all powerful and show strength that has given me strength.”

That strength has allowed her to move forward with her life with her husband, Matt, and her daughter, Ava Mae. “I just started a program to pursue my master's and hopefully Ph.D. in history,” the former teacher said.

“I'm still clinging onto the hope that I can pursue my dream of teaching at a collegiate level. As for the immediate future, it's just taking care of my daughter, taking care of myself to the best of my ability and making sure that she knows that she's loved, she's safe, and even if mom is mom is sick, that doesn't mean anything different for her.”