Managing Life With a Rare Disease
- Beloved Canadian singer and mom of three Celine Dion is celebrating her 58th birthday with “the best gift” of her life—comeback concerts in Paris.
- Dion is looking forward to returning to the stage as she continues to inspire fans and others living with rare diseases. She revealed in December 2022 that she had been diagnosed with stiff-person syndrome (SPS), a rare neurological disorder.
- To manage her rare condition, she is undergoing intravenous immunoglobulin (IVIG) treatment, which the American College of Rheumatology (ACR) defines as therapy made from antibodies collected from the plasma of thousands of healthy donors. She also receives support from a physical therapist, a vocal therapist, and takes prescribed medications.
- 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 Clinical and PubMed are great resources to use if you’re considering experimental treatment for your rare disease.
Dion—who has been managing life well with a rare neurological disorder called stiff-person syndrome (SPS), which she was diagnosed with in 2022—took to social media to share the exciting news with her fans, while offering some uplifting insight into her health.
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Dion, who suffered the loss of her husband René Angélil 10 years ago, continued by praising her fans for helping her in ways she’s unable to describe.
She explained, “You’ve helped me in ways that I can’t even describe and I’m truly so fortunate to have your support. I’ve missed you so much. And that brings me back to my birthday, actually.
“So this year, I’m getting the best gift of my life. I’m getting the chance to see you, to perform for you once again in Paris, beginning in September this year. I’m so happy. I’m so ready to do this. I’m feeling good. I’m strong. I’m feeling excited, obviously.”
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After acknowledging the pre-concert nerves she’s experiencing, Dion further emphasized her gratitude, saying, “I can’t wait to see you again. Well, happy birthday to me. I love you all and I’ll see you soon. Big kisses and goodbye for now.”
Dion’s upcoming Paris concert dates are listed as follows:
- Saturday, September 12
- Wednesday, September 16
- Saturday, September 19
- Wednesday, September 23
- Saturday, September 26
- Wednesday, September 30
- Saturday, October 3
- Wednesday, October 7
- Saturday, October 10
- Wednesday, October 14
According to Canadian news outlet, La Presse, Dion’s residency will held at Paris La Défense Arena, an indoor arena in Nanterre, a western suburb of Paris, France.
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Fans were overjoyed with the news, with one commenting, “I’m not crying… you are crying… Ok.. I’m crying.”
Others commented, “After long queues I’m registered everywhere and ready,” and “We are so happy for you… Take care from here.”
“Happy birthday Céline!! This is the best present for us too xxxxx,” another comment read.
Celine Dion’s Battle With Stiff-Person Syndrome
Celine Dion revealed that she was diagnosed with stiff-person syndrome back in December 2022. The heartbreaking diagnosis led her to postpone and/or cancel several concerts scheduled for Spring and Summer 2023.
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.
“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 spoke about how she’s managing her symptoms in an earlier interview with the “TODAY” show, 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.
As Dion is reportedly seeking help from physical therapists, medication, and a vocal therapist, it’s a relief to see she’s been able to manage the disease—as her journey with SPS is offering hope for other patients battling rare disease.
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Back in 2024, 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.”
Resilience Through Adversity
SurvivorNet specializes in covering the lives of people who overcome seemingly insurmountable obstacles. Often, seeing the positive helps them maintain their resilience.
Dr. Zuri Murrell, an oncologist at Cedars-Sinai Medical Center, spoke to SurvivorNet about the role of a positive outlook on survival rates: “I’m pretty good at telling what kind of patient are going to still have this attitude and probably going to live the longest, even with bad, bad disease. And those are patients who, they have gratitude in life.”
Resilience: Staying Positive Despite Adversity
Meanwhile, resilience is an important trait, but not the easiest to build. When building resilience, the ultimate goal is not to avoid tough times, but to be able to bounce back from them. And yet, when they are faced with an overwhelming, life-changing situation, how do people shift their view? How do they learn to see the problem as temporary, rather than permanent, and figure out a solution?
It’s complicated, because building resilience is more about your mental and emotional fortitude than anything else. According to the American Psychological Association, “the resources and skills associated with more positive adaptation (i.e., greater resilience) can be cultivated and practiced.” In other words, resilience is not something you’re born with, which should be encouraging. Instead, after every challenge in your life, you build more and more resilience to those hard times.
Building resilience is down in the same way you build muscle, through patience and steady exercise of the skill.
Some lessons learned from other cancer warriors SurvivorNet has covered include being willing to learn, spending time with people who inspire you, allowing yourself to grieve, being flexible, and leaning in to your community for support.
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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.”
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.
RELATED: Clinical Trials Can be Life-Saving for Some
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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