Céline Dion’s doctor hopes the singer’s decision to share her journey with Stiff Person Syndrome will be a catalyst for more research into the debilitating and rare autoimmune and neurological disorder.
dr. Amanda Piquet, who serves as director of the autoimmune neurology program at the University of Colorado and is the doctor who diagnosed Dion, tells PEOPLE in this week’s issue that the disease is widely unknown — even in the medical community.
Stiff person syndrome (SPS) is an incurable neurological disorder that affects the central nervous system, especially the brain and spinal cord. It is associated with slurred speech, double vision, and painful muscle contractions that can become so severe that patients lose the ability to walk or speak.
“You can think of it as braking the nervous system,” explains Piquet. “So if you can’t brake, you have symptoms of hyperexcitability, muscle spasms.”
In Dion’s case, the five-time Grammy winner struggled with muscle spasms in her throat and feet. She had difficulty breathing and walking, vision problems and, worst of all, “crisis” episodes during which her body became stiff as a board while she suffered excruciating pain.
Piquet says these “crisis” episodes usually occur in the legs or trunk — the chest, stomach and back. They are often confused with seizures; however, they are much different.
“Most people have experienced a charley horse in their calf in their lifetime. So imagine not just that muscle, but all the muscles in the body involved, which can be very distressing and extremely painful,” she says. “It can last from minutes to hours.”
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Celine Dion performs on the first night of her new world tour “Courage” on September 18, 2019.
ALICE CHICHE/AFP/Getty
Céline Dion Diagnosed with Stiff Person Syndrome — Here’s What You Need to Know About the Rare Condition
SPS tends to be a progressive disease, Piquet adds, so it’s common to see patients with minor symptoms that develop over time and become increasingly disabling. She says it’s also difficult to predict when these cramps will occur and that each patient will experience different levels of severity.
That’s why Dion’s diagnosis came 17 years after she started noticing the signs.
“It is a disease that is difficult to diagnose because the medical system does not recognize it well,” explains Piquet. The usual age of diagnosis is around 50 years.
“This is a rare disease and it can look like other things. So initially, when the muscle spasms start, they just come and go and it can mimic many other neurological diseases,” she continues, noting that the disorder is often misdiagnosed as multiple sclerosis or Parkinson’s disease.
Because there is no cure for SPS, treatment plans typically focus on immunotherapy — targeting the underlying autoimmune disease — and symptomatic therapy. This includes antispasmodics and muscle relaxants, as well as physical therapy, massage therapy, hydrotherapy.
“Many of my patients are so determined to find better treatments for this disease because it is so devastating,” admits Piquet.
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Céline Dion Describes Scary Stiff Person Syndrome Symptoms 17 Years Back: ‘I Went Down, Down, Down’ (Exclusive)
Having Dion speak publicly about her own experience with the disorder will undoubtedly be life-changing for many struggling with SPS, Piquet says.
“We don’t have FDA-approved therapies for this disease. Although we do use these treatments, they’re all off-target,” explains Piquet, who estimates that 2 out of every 100,000 people struggle with SPS. “I’ve certainly had patients who have had clear improvements with these therapies, but we need clinical trials and research to tell us what really works best.”
As Piquet and her team continue to make research progress (an epidemiological study they recently submitted is currently under review), the doctor encourages patients to remain hopeful.
“Between the awareness we’re seeing with Celine bringing this to the general population and our epidemiological studies, people will be interested in finding a cure and better treatments for this disease,” she says.
“We have to do better and I think the research is coming.” Piquet tells PEOPLE. “The future of SPS is bright and there is a lot on the horizon. And while we don’t have a cure for this disease, there are definitely things we can do to help manage the disease.”
For all the details on Céline Dion’s Stiff Person Syndrome diagnosis and her fight to get back on stage, pick up the latest issue of PEOPLE, on newsstands now.
Categories: Trends
Source: HIS Education