Celine Dion, who on Thursday announced she's battling Stiff Person Syndrome, has been diagnosed with an incurable neurological disease so extremely rare that, according to the famed Cleveland Clinic, only about one out of every one million people get it.
The Cleveland Clinic, founded in 1921 and credited with pioneering many medical breakthroughs, also says twice as many women suffer from the disease as men, and symptoms -- which can take months or even years to develop and may include violent spasms and an inability to even walk -- can occur at any age but usually within the ages of 30 and 60.
The Mayo Clinic describes Stiff Person Syndrome as "a rare disorder of motor function characterized by involuntary stiffness of axial muscles and superimposed painful muscle spasms, which are often induced by startle or emotional stimuli."
The disease is often misdiagnosed as Parkinson's disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia, according to the National Institute of Neurological Disorders and Stroke. The institution says a "definitive diagnosis can be made with a blood test that measure the level of glutamic acid decarboxylase (GAD) antibodies in the blood." According to the NINDS, those with Stiff Person Syndrome "have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain."
ET spoke with Dr. Tara Zier, a dentist who founded the Stiff Person Syndrome Research Foundation after she was diagnosed with the disease in 2017. The foundation aims to raise money for development of treatments and a cure.
Zier, whose own symptoms included the left side of her face becoming numb, weakened hips and difficulty in walking, opened up to ET about the serious challenges that lie ahead, though she cautioned cases can vary.
"People can die from complications of the disease. It's serious," she said. "At the same time, I know people who have lived with it for 30-plus years. I think that more information would need to be known about her specific condition. There are different types and different categories. We just don't know enough about [the disease] and that's why the research is so critical, so we can understand it better."
Zier can speak from her own experience that physical therapy is paramount to living a better life with the disease.
"If she can tolerate the physical therapy then there are a lot of pluses as far as strength," Zier explained. "I’ve experienced that myself. I’m a lot stronger than I was in 2017. I’ve been able to gain muscle back. Not entirely but I’ve been able to gain some muscle back. And I see myself, over time, with physical therapy being able to do much more than I was before. So, that’s where I have hope for people with this condition, including Celine. Do what you can and have grace and love for yourself, and if it doesn’t happen right away, it doesn’t mean that it won’t happen."
Dion, 54, revealed the diagnosis in an emotional video posted on social media.
"Hello, everyone, I’m sorry it’s taken me so long to reach out to you, I miss you so much and I can’t wait to be onstage talking to you in person," Dion, wearing an all-black outfit, begins her message. "As you know, I’ve always been an open book and I wasn’t ready to say anything before but I’m ready now."
Taking a deep breath, the singer becomes emotional before revealing, "I’ve been dealing with problems with my health for a long time, and it’s been really difficult for me to face these challenges and to talk about everything that I’ve been going through. Recently I've been diagnosed with a rare neurological disorder called the Stiff Person Syndrome, which affects something like one in a million people."
For some time now, Dion's been forced to cancel or postpone events due to spasms. She now knows what's brought on those spasms, which have impacted her ability to take the stage.
"While we’re still learning about this rare condition, we now know this is what’s been causing all of the spasms that I've been having,” she explained. "Unfortunately these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk, and not allowing me to use my vocal cords to sing the way I’m used to."
There is no cure for Stiff Person Syndrome, and the best way doctors can treat patients with SPS, according to Yale Medicine, is by focusing on relieving their symptoms with medications such as sedatives, muscle relaxants and steroids.
Some other prescriptions may include immunotherapies such as intravenous immunoglobulin and plasmapheresis. There's also physical and occupational therapy, as well as aqua therapy.
Zier emphasized that while there's no cure for the disease, recovery also isn't linear. She said the pain can "bounce around" from time to time and patients with the disease can have flare ups. It's why she underscored the importance of living a stress-free life, but therapy's equally important.
"It's a process. There are no guarantees for anything in life. There's no guarantee for recovery. But what are the options? Are you going to sit back and do nothing because there isn't a guarantee or are you going to do what you can to get better?" she said. "That's going to give people the best chance of recovery, is to do what they can to get better, because the alternative is really not moving because of pain, fatigue and any other symptoms they're experiencing. That leads to muscle atrophy, difficult with mobility and potentially being bedridden. So, to give people the best chance is to look at comprehensive healing and to take those steps. It's not easy. It's hard. It's really hard, but that's where I think there's hope. That's what I'm doing."