Hope Amid A Rare Diagnosis
- Grammy-winning vocalist Céline Dion has been diagnosed with a “very rare” neurological disorder called Stiff-person syndrome (SPS), and she took to social media today to tell her fans about her recent struggle with Stiff-person syndrome (SPS).
- Despite revealing the news of her rare diagnosis, Dion, who lost her husband, producer René Angélil, to throat cancer on January 14, 2016 when he was 73, continues to stay optimistic and hopes for recovery.
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.
A tear-eyed Dion addressed fans across the globe on social media about how she’s dealing with the diagnosis, how grateful she is for the support she’s been receiving, and the future of her European tour.Read More
“Recently, I’ve been diagnosed with a very rare neurological disorder called the stiff-person syndrome, which affects something like one in a million people. 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 continued. “Unfortunately, these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk and not allowing me to use my vocal chords to sing the way I’m used to.”
The mother of three then announced that eight of her 2023 European summer tour shows have been canceled in the wake of her diagnosis. However, her Spring 2023 shows have been rescheduled to 2024—a time when Dion aspires to get better and return to performing.
“It hurts me to tell you today that this means I won’t be ready to restart my tour in Europe in February. 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,” Dion explained.
‼️ Celine Dion reschedules Spring 2023 shows to 2024, and cancels 8 of her summer 2023 shows. ‼️
"It hurts me to tell you that I won't be ready to restart my tour in Europe in February.” – Céline
— Celine Dion (@celinedion) December 8, 2022
Dion has been experiencing health issues over the past year, as she previously announced in April that her 2022 European tour dates had been rescheduled to next year. At the time she said, “It’s my health issues causing us to postpone the shows. I am doing a little bit better…but I’m still experiencing some spasms. I need to be in top shape when I’m on stage. I honestly can’t wait, but I’m just not there yet… I’m doing my very best to get back to the level that I need to be so that I can give 100% at my shows because that’s what you deserve.”
Now, months later, she has maintained hope and continues to work daily with her sports medicine therapist to “build back” her strength and ability to perform again, even though “it’s been a struggle.”
“All I know is singing. It’s what I’ve done all my life and it’s what I love to do the most. I miss you so much. I miss seeing all of you, and being on the stage performing for you. I always give a hundred percent when I do my shows, but my condition is now allowing me to give you that right now,” Dion said towards the conclusion of the emotional statement, before thanking her fans for their support.
“I always give 100% when I do my show but my condition is not allowing me to give you that right now. For me to reach you again I have no choice but to concentrate on my health at this moment. And I have hope that I’m on the road to recovery. This is my focus and I’m doing everything I can to recuperate.”
Learning About Stiff-Person Syndrome (SPS)
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,” according to the National Institutes of Health.
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.
“It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don’t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord,” the NIH explains. “The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia.”
“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.
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, which could be 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.
Céline Dion on Losing Her Husband
Dion lost her husband Rene Angélil to throat cancer on January 14, 2016. Angélil was first diagnosed with the disease in 1998, but it went into remission for some time. Unfortunately, he was diagnosed with throat cancer again after doctors found a lump on his neck in 2014. He had surgery to treat the cancer and doctors removed parts of his tongue. Two years later, he passed away at age 73.
The Canadian superstar has been very open about her grieving process since his death. In a previous interview with TODAY, Dion shares that she still feels Angélil’s presence.
“Losing my husband, for my kids to lose their father, it was quite something,” Dion said. “I feel like Rene has given me so much through the years and still today I see my kids I look at them and… We still live with him. He’s part of our lives every day.”
Dion also says she is very lucky to have so many people making her laugh and filling her life with joy despite still feeling the loss of her husband.
“Right this second, love is so big right now in my life with my kids, with life itself, I’m not thinking about a relationship and falling in love again,” she said.
Mental Health: The Basics
The term mental health refers to both our emotional and psychological well-being. Our mental health can affect how we think, feel, and behave.
Certain triggers like stress, traumatic events, or change in your physical health can affect mental health. It’s really important to keep tabs on your mental health and, if necessary, seek treatment. This doesn’t necessarily mean traditional therapy because while it may be really helpful (even life-changing) for some, that doesn’t mean it’s for everyone.
Problems with mood and overall mental well-being can be attributed to several factors. For some people it’s genetic, while others may be experiencing a response to some sort of stressor or past trauma.
Dr. Samantha Boardman, a New York-based psychologist, explains how to be “realistically optimistic” when learning to cope with mental health struggles.
In order to keep your mental health in check, it’s important to be aware of signs — which can be subtle — that there is something affecting your mind. These signs include:
- A change in eating or sleeping habits
- Losing interest in people or usual activities
- Experiencing little or no energy
- Numb and/or hopeless feelings
- Turning to drinking or drugs more than usual
- Non-typical angry, upset, or on-edge feelings
- Yelling/fighting with loved ones
- Experiencing mood swings
- Intrusive thoughts
- Trouble getting through daily tasks
These symptoms can be wide-ranging and vary a great deal from person to person. Everyone experiences grief differently, for example. However, if you are feeling unusually sad, on-edge, or like you’re no longer interested in activities you used to love, know that there are many treatment options available and many different healthy ways to help you cope.
Coping With Emotions
A diagnosis of cancer or any rare disorder, like the one Céline Dion has opened up about, can be derailing and send you into a down-spin of emotions. And an important way to pick yourself back up is to feel those emotions and let them out. In this episode of SurvivorNetTV’s series, “SN & You,” survivors share how they handle their mental health and cope with their emotions after undergoing cancer treatment.
Getting a handle on your mental health is important and processing your emotions is one of the first steps. Cancer survivors say that first you must let the emotions out, find your support system, and live your life.
“People that are strong cry, it’s the weak ones who try to hold it in,” says Evelyn Reyes-Beato, a colon cancer survivor.
In this episode, you’ll hear several women, all of whom are cancer survivors, talk about their experiences dealing with cancer and navigating life after a diagnosis. Many of these women get very emotional about what they have gone through. It just goes to show that crying and being open with your emotions are part of the healing process.
Have a Rare Disease? Here are Some Resources
With a rare diagnosis can come all sorts of feelings of anxiety, fear, and loneliness. 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.
“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.”
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.
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 customized 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.”
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.
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