A Look Into the Daily Life of Those Living with Stiff Person Syndrome

“How are you doing?”—a seemingly straightforward question that is often loaded for Tara Zier, an individual living with Stiff Person Syndrome. Before she can even answer, people often assume she’s okay. An easy misdiagnosis when looking into the brunette’s warm eyes, bright smile, and observing her tall, sinewy physique. “That feels odd because of how sick I feel,” she reveals. Not wanting to complain or be a burden, she usually responds with, “I’m hanging in there,” even if it couldn’t be farther from the truth.

From the bed to the living room and back again — the only places you’ll go all day, every day. This is the life of someone suffering from Stiff Person Syndrome. Difficulty standing, showering, or even cooking — not to mention the ever-looming fear of a muscle spasm that can harden you like a statue at a moment’s notice. This is the life that Tara Zier lives. These debilitating symptoms have slowly transformed Zier’s being. “I drag myself out of bed every morning, then set up for my day on the couch,” she states. Before SPS, Zier was Dr. Zier, a 52-year-old dentist with a thriving practice. Karate was her hobby and she enjoyed traveling with her children. “I never gave my health a second thought,” she recollects.

Then one day, within a month, she had lost 30 pounds. Running around from specialist to specialist, she was finally referred to a local neurologist who ran a battery of tests that eventually uncovered what was wrong. She had an abnormal and elevated level of antibodies to Glutamic Acid Decarboxylase. “You have Stiff Person Syndrome,” he revealed to her. “When I became sick, my whole life turned upside down. I had to hire someone to help take care of my kids. I need help with meals,” says Zier.

By now you know Stiff Person Syndrome is ultra stealthy, something you cannot see from the outside looking in, yet it tears at the physical and mental core of who someone is. “I want to desperately be myself, so I do my best to be upbeat and engaging while battling the debilitating symptoms,” says Zier, who founded The Stiff Person Syndrome Research Foundation (SPSRF), a non-profit raising awareness and funds to help those that are diagnosed with SPS. She explains that it is as much a battle of the mind as it is the body. “I feel like I am performing all of the time. It is exhausting. I felt like I lost my identity when I had to stop practicing dentistry.”

In December, when people are focused on family and holiday travel, Céline Dion revealed she was centering her health. The 54-year-old singer had been diagnosed with Stiff Person Syndrome, a rare neurological disease that leaves sufferers with draining and debilitating muscle spasms. The incurable disorder has caused the best-selling singer to postpone her upcoming tour to 2024 to recuperate and rest while determining the best course of treatment. “I have a great team of doctors working alongside me to help me get better,” said Dion.

Rarely ever spoken of in the news, the award-winning singer has brought awareness to a medical condition that has long gone unnoticed. Learn more about its symptoms, causes, treatments, and what it’s like to be diagnosed below.

What is Stiff Person Syndrome?

Medically categorized as a neuro-autoimmune disorder, Stiff Person Syndrome or SPS causes those diagnosed to have stiff muscles in the arms, torso, and legs. According to the National Institute of Health, it can even cause “greater sensitivity to noise, touch, and emotional distress, which can set off muscle spasms.”

What Causes Stiff-Person Syndrome?

While the cause of SPS is unknown, its symptoms are said to be “caused by deterioration of the parts of the nervous system that restrain our muscles. This loss of restraint leads to overexcited, hyperactive muscles. Unfortunately, we don’t know why most autoimmune diseases develop, but genetics and environmental factors both likely play a role,” according to Dr. Basil Kahwash, a Board-Certified Immunologist at Vanderbilt University in Nashville, Tennessee. This decreased inhibition results from the disruption of some central nervous system pathways that inhibit muscle contraction. Some abnormal antibodies may impact the altered neuronal excitability.

“The action of the abnormal antibodies is only partially understood. It is not known why these abnormal antibodies are produced. The normal immune system makes antibodies which recognize and help destroy foreign bodies,” explains Zier. Although people make billions of antibodies, in SPS, a few antibody types are abnormal.

Because it is an autoimmune disease, antibodies are directed toward a person’s tissues resulting in the body attacking itself. She notes that more research is needed to better understand the role of the abnormal antibodies associated with SPS; Since this disorder includes abnormal neuronal (nerve cells) function and abnormal antibodies, it is considered a neuroautoimmune disorder. It may take up to seven years to determine an adult has SPS, and more often than not, it is misdiagnosed as MS, Parkinson’s, or a psychological disorder, according to Zier and the Stiff Person Syndrome Research Foundation.

Can SPS be cured? Is it treatable?

Zier maintains that while there are treatments, there is no cure. While treatment primarily focuses on relief from symptoms, it is often not enough. Zier adds that immunotherapies involving medications and other treatments have been utilized to address specific autoimmune abnormalities.

People with SPS have very different responses to treatments, so the patients and their physicians carefully try and evaluate medications. It is impossible to predict which drugs will be effective for an individual; however, some experts report that the types of SPS antibodies in a person might influence which immunotherapies are most likely to be effective. There is currently no cure for SPS. Medications and other treatments may help reduce some individuals’ stiffness, muscle spasms, and pain. Unfortunately, most patients with SPS still have at least some degree of disability.

Who is affected by SPS?

According to The Stiff Person Syndrome Research Foundation, SPS affects at least 1 – 2 people in every million and is more common in women than men. It usually occurs between ages 20 – 50 and is extremely rare in children, but The SPSRF is aware of at least one child, I.M., who was diagnosed with SPS at 18 months old.

When I.M. had reached the milestone of crawling in her journey of growing up, she was suddenly unable to continue a short time thereafter. Her parents were alarmed and immediately took the young child to a bevy of specialists — her mother wanted a neurology consultation right away and was finally able to secure one. At this time, the doctors ran every test they could think of and determined that the baby had Stiff Person Syndrome within two months of examination at a hospital in Providence, Rhode Island. This was later confirmed by neurologists at Boston Children’s Hospital.

Does the COVID Vaccine cause SPS?

Currently, there is no established link between COVID-19 vaccines (or any vaccine) and increased risk of SPS, states Dr. Kahwash. “We don’t know why SPS develops in some individuals. SPS was first discovered in the 1950s and has remained very rare since then. At present, millions of Americans have received a COVID-19 vaccine, and to date, there’s no sign that the population rate of SPS is increasing.”

What is it like living with SPS?

Zier suffers from SPS and states that it has affected every aspect of her daily life. “I now deal with fatigue, muscle rigidity, and pain on a daily basis. My sleep is compromised. My back muscles feel like they are in a vice. I have to plan everything down to when I’m going to shower due to limited energy. I endure physical therapy three days a week. It’s difficult and adds to the fatigue and pain. But it’s worth it because I’m getting stronger. For me, this illness is invisible, which has its unique set of challenges.”

People assume she feels fine because of her outward appearance, but battling the debilitating symptoms can sometimes feel like a performance.

“Everyone’s experience with this condition is different,” tells Zier. It is a spectrum that ranges in severity. “Some have muscle spasms so severe they break bones, dislocate joints, and result in life-threatening breathing problems. Most have problems with mobility and require assistance like walkers and wheelchairs. Some people are bedridden.” A major challenge with SPS is serious injury from a startling or unexpected body spasm. Those with SPS can fear going outside or become uncomfortable with it, and this can lead to isolation, depression, and anxiety — an unfortunate side effect of medication and treatment, according to Zier.

Lea Jabre, a 35-year-old woman who serves on the Patient Advisory Board of the Stiff Person Foundation, feels every aspect of her life has changed. “As my symptoms have progressed, and they have developed quite rapidly in the last three years, I feel my life has been put on hold. I am at an age where I thought I would either be a mum or starting a family or traveling the world with my husband to discover new and exciting places.” SPS has taken over her life — she cannot walk without a cane or for long distances, she can’t exercise, and she cannot be in loud places or around bright lights. Too much stimulation gets her stiff or triggers spasms for her. Lea feels that her body has complete control over her life.

For young I.M., it is a traumatizing experience when she is overstimulated by sound or action, especially as a toddler who cannot articulate her feelings with words. Her pain or comfort level is expressed as any child’s is, but because of her diagnosis, it becomes evident when it stems from SPS. The psychological piece is not even a consideration with tiny children as it is with adults. Navigating the school system has proven challenging as they had never heard of this diagnosis. I.M.’s parents needed to get her an IEP (Individualized Education Program) to continue receiving the necessary support in her preschool classroom, on top of ongoing therapies.

Dr. Kahwash breaks it down even further, explaining that “most people know that you need to think about moving a muscle before you can do so, and that requires a nervous system. Not everyone knows that your nervous system also holds your muscles back from moving on their own when you don’t want them to be moving.” He paints a picture of what this sort of spasm can feel like for someone living with Stiff Person Syndrome: “Imagine contracting one of your muscles and holding it that way — this is what occurs when an SPS patient loses the ability to relax their muscles. This loss of relaxation control is also what causes muscle spasms.”

Both Lea and Tara feel strongly about the public, or even those who practice medicine, acknowledging their daily difficulties – Jabre even wept the day she received her diagnosis. “After five years, more than 20 doctors, and being constantly called crazy, the day a neurologist finally acknowledged something was wrong with me, I cried tears of joy. Little did I know how difficult of a diagnosis it would prove to be.” She hopes that the medical community will have access to better research so we can have better treatments to eventually find a cure. So far, the foundation has donated $97,500 to Johns Hopkins Stiff Person Syndrome Center for research on Biomarkers to better understand the disease and develop more targeted treatments.

Céline Dion’s announcement feels monumental for Lea and Tara, who see her courage as a way to open doors to more awareness about the disease, hopefully leading to much-needed research in the long run. As for what Zier hopes will change for those who suffer from SPS, she leaves us with this final thought. “This disease is not incurable. It hasn’t been cured yet. That’s why we need research.”

The Stiff Person Syndrome Research Foundation is propelling forward with a course of action, launching the first-ever patient contact registry and natural history study in 2023 to give researchers a large pool of patients to study, which is critical for driving research forward.

Receiving this diagnosis is beyond words — it can be scary, difficult, and feel like you’re left in the dark. Zier still does not let this get her down. In fact, her pain has transformed into motivation to better the lives of those in her shoes. “As soon as the call [with her doctor] ended, I was on a mission to find out what the disease was, who were the best doctors to treat it, and if anyone had gone into remission. And now, five years later, I’m on a mission to cure it.”