Hope In Managing Stiff-Person Syndrome
- Singer Celine Dione may be living with a rare neurological disorder called stiff-person syndrome (SPS), but she’s not letting that stop her from doing what she enjoys and spending time with loved ones. She recently recorded herself responded to Kelly Clarkson singing “My Heart Will Go On,” admitting it brought her to tears.
- Dion, who lost her husband to throat cancer in January 2016, revealed in December 2022 that she was diagnosed with stiff-person syndrome, and the diagnosis prompted her to postpone and/or cancel several concerts scheduled for last year due to her heartbreaking diagnosis. However, she’s since returned to performing and recently sang “Hymne à l’amour” at the Eiffel Tower during the most recent summer Olympics in Paris, France.
- Dion is managing her condition through intravenous immunoglobulin [IVIG], which the American College of Rheumatology (ACR) describes as therapy “prepared from a pool of immunoglobulins (antibodies) from the plasma of thousands of healthy donors.” She is also receiving help from a physical therapists, a vocal therapist, and medication.
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers. More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease. Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
The 56-year-old mom of three, also known as the “Queen of Power Ballads,” is known for singing the beloved song composed by James Horner, which was the best-selling single of 1998 and took to the top of the charts in more than 25 countries.
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Her emotions followed Clarkson’s sweet reaction to Dion’s recent performance at the 2024 Summer Olympics in Paris, France, when Dion sang Edith Piaf’s song “Hymne A L’Amour” during the opening ceremony.
Recounting the well-praised performance, Clarkson said during a broadcast of the Olympics Opening Ceremony, “I actually can’t talk right now. If you know anything just about Celine right now, this is her purpose…
“That she got through that, that was incredible. And in my field, she is the gold winner for vocal athletes.”
Following up to Clarkson’s reaction, Dion said, “It was so sweet to hear your voice. our voice was breaking and it touched me so tremendously.”
It’s certainly admirable to see Dion being so open with her feelings amid her battling with a rare neurological disorder. Despite her health issues, and coping with the loss of her sweet husband years ago, she’s continuing to thrive and impress her fans.
Just this week, Dion made a surprise appearance at the Shrine Auditorium in Los Angeles at the City of Hope Gala to present the Spirit of Life Award to Jay Marciano, Chairman and CEO of AEG Presents.
Alongside a photo of herself on stage at the event, Dion wrote, “Extraordinary company gathered there in support of the acceleration of cancer research and treatment. You can learn more about the cause on @cityofhope .
“It was my honor to share the stage with the guest of honor, Jay Marciano, and the likes of my dear friend @eltonjohn for a truly unforgettable evening. City of Hope is a phenomenal cancer research organization and to be a part of such an inspiring night touched my heart deeply. I’m so grateful to have been invited. Together, we can make a difference. – Celine xx….”
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During her speech at the event, Dion said, “The City of Hope is so well-named. It does so much more than the important research leading to new treatments.
“It provides care to people in their greatest time of need…it provides the most precious ingredient of all. It provides hope.”
Speaking to People this past summer, she admitted, “I’m still married to René. He’s still my husband. When we have to travel to my treatments to see my doctors, I always bring pictures [of him].
“And we have pictures, of course, all over the place in the house.”
She continued, “Even when they were very small, even when he was still with us in his bed [when he was] in his room struggling, he was with us still.
“[They would tell him], ‘Dad, we’re going to be watching Ratatouille tonight, so I hope you like it.’ They were talking to him, and they kiss the pictures.”
Celine Dion’s Battle With Stiff-Person Syndrome
In December 2002, Celine Dion revealed that she was diagnosed with stiff-person syndrome, and the diagnosis led her to postpone and/or cancel several concerts scheduled for Spring and Summer 2023 due to her heartbreaking diagnosis.
In her Instagram video announcement, Dion informed her fans, “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 talk about everything that I’ve been going through.
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“I have a great team of doctors working alongside me to help me get better and my precious children, who are supporting me and giving me hope.”
Stiff-person syndrome (SPS) is described as a rare neurological disorder with features of an autoimmune disease, that is “characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms,” the National Institutes of Health explains.
The NIH notes that people with this disease, which has been found to affect twice as many women as men, are often seen with unusual postures, with their backs hunched over and stiffened.
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“A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain,” the medical research agency adds.
According to Johns Hopkins Medicine, symptoms associated with the rare, progressive neurological disorder include:
- Painful muscle contractions
- Muscle spasms (which often begin in the legs or back)
- Difficulty walking
- Unsteadiness and falling
- Shortness of breath
Although the disorder isn’t curable, people with this disease can be treated with “IVIg, anti-anxiety drugs, muscle relaxants, anti-convulsants, and pain relievers” to help control symptoms. Symptoms can sometimes include falling due to a lack of their body’s normal defensive reflexes.
“People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS,” NIH explains.
New Hope For Stiff-Person Syndrome Treatment
Celine Dion recently spoke with the “TODAY” show on how she’s managing her condition, revealing she’s using intravenous immunoglobulin [IVIG], which the American College of Rheumatology (ACR) describes as therapy “prepared from a pool of immunoglobulins (antibodies) from the plasma of thousands of healthy donors.”
The ACR explains, “Immunoglobulins are made by the immune system of healthy people for the purpose of fighting infections. Unlike many of the medications prescribed by rheumatologists, IVIG/SCIG [Subcutaenous Immunoglobulin] do not increase the risk for infection.
“IVIG/SCIG work in different ways to prevent the body from attacking itself and to decrease several types of inflammation in the body. It is considered safe for use during pregnancy and breastfeeding.”
It’s a type of treatment that’s used for various types of autoimmune and immunodeficiency conditions.
Dion is also reportedly seeking help from physical therapists, medication, and a vocal therapist.
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We’re happy Dion has seemingly been able to manage the disease, as she’s been seen looking incredible at recent events, but it’s important to note there is hope for patients with SPS.
Just this year, the FDA cleared Kyverna Therapeutics’s CAR T-cell therapy trial for a Stiff-Person Syndrome Trial, according to CGTLive.
Dr. Marinos Dalakas, MD, FAAN, Professor of Neurology, Director, Neuromuscular Division, Thomas Jefferson University School of Medicine, Philadelphia, PA, said in a statement, “CAR T-cell therapy has already shown preliminary but promising results in patients with SPS treated outside of the US.
“I find the KYSA-8 trial of extraordinary importance as a promising novel therapy for patients with stiff person syndrome who do not respond to current therapies, with implications in providing potentially long-lasting benefits.”
In regard to other treatment methods, the National Institute of Neurological Disorders and Stroke (NINDS) explains, “With appropriate treatment, SPS symptoms may be kept under control.
“Several symptoms improve with oral diazepam (an anti-anxiety and muscle relaxant drug) or with drugs that alleviate muscle spasms, such as baclofen or gabapentin.”
Meanwhile, a study founded by the NINDS showed that intravenous immunoglobulin (IVIg) treatment, the type Celine Dion is undergoing, “is effective in reducing stiffness, sensitivity to noise, touch, and stress and for improving gait and balance for people with SPS.”
Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.
Seeking Care at a Comprehensive Cancer Center
“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology.”
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Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.
“We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment )or trying to find specialists) is clinicaltrials.gov, a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.
Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinical Trials Can be Life-Saving for Some
Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.
By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.
And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.
To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.
“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
PubMed
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.
If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
Newly-Developed Drugs
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.
The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.
Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
Contributing: SurvivorNet Staff
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