Introduction
Celine suffered a voice-affecting disorder characterized by an inability to relax certain muscles—a peculiar re-stiffening response after initial voluntary contractions. This is called “Stiff-Person syndrome,” and it’s simply hard to get through the voice, unless you are professionally trained since birth to use an astonishing range of techniques. This over-the-top peculiarity is not the defining attribute of Celine’s illness. The emotional trauma central to her life imposed by this disorder is the overwhelming part of her survival story. It is against this backdrop that Celine Dion’s health journey is told here: she is now both performer and patient, at apartheid with her identity since first diagnosed at age twelve. Stiff-Person syndrome is a rare—33 in every million—autoimmune disorder. With a background of infection, a person’s immune system starts mistakenly attacking parts of the body. In Stiff-Person syndrome, the auto-antibodies commonly attack the body’s own proteins as produced by two enzymes: glutamic acid decarboxylase and alanine-amino-transferase.
In an age when physicians and self-thinkers seek to enhance their own physical and mental well-being—driven in part by the World Health Organization’s definition of health as an overall state of physical, mental, and social well-being, not just the absence of disease itself—it is a good reminder that some are living in different circumstances. Celine Dion is a Canadian singer known well for her contributions to French-chanson and English music. Surprisingly, her health journey featured a rare and life-altering condition. The light that’s been cast on this disorder first by Dion’s presence, and secondly by a joy of openly discussing her condition should be an example to us all. She is someone we celebrate when she delivers to her worldwide audiences, as we long for the same joy from ourselves in our own little lives. This article is not a medical investigation, however, understanding it is a humanistic obligation if not challenge.
Background on Celine Dion’s Health
Celine Dion was diagnosed with Stiff-Person Syndrome (SPS): a rare neurological disease causing muscles to restrict movement and motion. SPS is so crushing that the patient becomes paralyzed and can’t move, while still feeling pain. The syndrome affects only roughly 1 in 1 million people overall, and one major question that many might be asking is: how did superstars like Celine find themselves in such a disheartening situation? This question is of great interest, and understanding SPS could guide both ongoing concert performances and save additional people confronted with a more serious situation.
Many pursue singing as a career, but only a handful reach such stardom that creates a legacy. Singers like Celine Dion have an exceptional way of sending a message to all of us through their voices—and they capture our hearts in the process, leaving us forever changed. In 2014, Celine’s life took an unexpected turn. She went through a period of feeling stressed and dizzy at the same time, and she found herself lacking strength to perform—and in a career like Celine’s that is the last thing an artist can afford. At first, Celine thought that her symptoms were anxiety-related, but when her stress numbers started going down, the physical symptoms remained—and the particular symptoms she was struggling with were not consistent with the normal diagnoses seen in society.
What is Stiff-Person Syndrome?
Stiff-Person Syndrome can develop at any age in individuals. Although sex-specific incidence has not been reported, this condition occurs most frequently in mid-life adults, and about five percent of cases may occur early in life before the second or third decade. The incidence of Stiff-Person Syndrome is believed to be underdiagnosed; however, with the increasing awareness of this condition, more individuals are diagnosed with adult-onset and variant forms. The diagnosed case number is approximately 1:1,000,000 and predominantly occurs in Caucasians. There is no cure for this condition, and current treatment options are limited to managing symptomatic episodes with medications that enhance the function of GABA, a neurotransmitter that is less abundant in Stiff-Person Syndrome individuals. These medications have limited efficacy and come with significant side effects. A small portion of individuals may benefit from plasma exchange and intravenous gammaglobulins treatment for episodic relief.
Stiff-Person Syndrome is a rare neurological disorder characterized by progressive muscle stiffness, rigidity, and episodic spasms in the trunk and limbs. These symptomatic episodes are frequently triggered by external environmental stress, such as noise, light, or emotional distress. This condition can also lead to falls and fractures from increased muscle tone and loss of muscle coordination. It frequently leads to a debilitating effect on the individual’s quality of life. Furthermore, it has also been found that these individuals may struggle with chronic pain and suffer from various autoimmune disorders, such as diabetes, thyroiditis, and pernicious anemia. The antibody, anti-glutamic acid decarboxylase GAD65, is an essential biomarker in Stiff-Person Syndrome and can be quantitatively tested.
Symptoms and Diagnosis
Other potential symptoms may include: nerve pain and muscle weakness, head drooping (head and upper thorax are pulled forward), muscle jerks or spasms, irregular heartbeat, non-paralytic pontine exotropia, a form of periodic ataxia. According to clinical evidence, anxiety, emotional stress, and sudden movement or noise exacerbate muscle stiffness and spasms. Symptoms of SPS can often exacerbate if the patient tries to sit down or lie down and if the patient is touched or approached by others. These stressful state and environmental triggers are noted as suggesting that SPS involves a mechanism such as a “startle” response. Due to relatively few diagnosed cases, the presentation of symptoms can vary significantly by the individual.
Two primary symptoms exist: continuous, prolonged muscle contractions causing muscle stiffness and spasm, encumbering movement; and altered sensitivity to stimuli such as noise. Although the symptoms potentially lead to problematic consequences due to the severity of these symptoms and the unpredictable nature of the disorder, the symptoms themselves are not fatal. The diagnosis of SPS is often made based on a combination of the clinical symptoms, particularly the episodes of stiffness, and identification of specific antibodies against two proteins, GAD65 and/or amphiphysin, in blood.
Celine Dion’s Experience with Stiff-Person Syndrome
Celine was then diagnosed with SPS, and she revealed that it was unbearable, life-threatening, and the pain was extraordinary. She expressed her “deep understanding” for doctors in sheer generating her energy, taking the time necessary for investigations, and always trying hard to figure out the genetic side of enigma. Celine Dion publicly drew more awareness to her audience and fans, such as assisting with the Myobloc procedure and donating to research while attending charity events for SPS.
After giving birth to her first son, Rene-Charles, Dion was experiencing fatigue, and her muscles quickly began gently shaking. Worrying about an overwhelming life and motherhood and touring, Dion was thinking that this must be the result of too much or from being just tired, accounting for these symptoms and a later episode of her immune system activating like she had experienced as a child. After the birth of her twin boys, Nelson and Eddy, Dion continued to experience trembling which developed into excruciating pain. Despite the pain, her constant smiling for the family’s public events medicated her through the day, and the pain and spasms caused her to wake at night. At the time, Celine was diagnosed with lupus. However, different doctors in different segments of medicine were concerned about the constant reminders of electrocution, constant trembling, and constant difficulty in cuddling that she was enduring. Celine struggled even more and her weight fluctuated wildly. Various members of her team suggested a neurological geneticist, which she barely understood at the time, telling her that solving a hereditary puzzle can sometimes be complicated, obscure, and, most of all, necessary. Hopeful as she was, Celine went through all of the steps necessary.
Celine Dion is among the world’s most beloved and recognized figures in popular music. Her health struggles are also well known, and she provided a detailed account of her experiences for BioMarin, a biotechnology company. Dion has been living with a rare neurological disorder for many years, affecting her physically, emotionally, and mentally. The genetic disorder stems from a change in the GAD gene, occurring in about one in a million individuals. It appears to be more common in women. In early childhood, Dion experienced immune problems like intensive food allergies recurring. As she was growing up, she was also experiencing trembling, shivering, and electric shock-like sensations, which she associated with being tired. The condition disrupted her daily routine whenever it appeared and as such, has had a major impact on her life.
Public Awareness and Advocacy
At the same time, such publicity, the information perceived by the public as more accurate may permit therapeutic hazards. Sensationalism can mislead true potential side effects of certain therapies as globally applicable to the entire population, causing general panic and skepticism. SPS is an ultra-rare disease that leads to reports about harmful effects on most rare diseases. While some patients have reported ownership benefits, opioid consumption and off-hours fear side effects, countless others benefited with substantial improvement in their SPS-induced neglect. Disappointing excesses disproportionately affect beneficiary subgroups. Celine Dion’s disease story not only enhances public awareness of SPS, gives optimism and courage to SPS patients and their friends, but also publicly highlights the direct benefit of immunotherapy. The upsides and downsides of Celine Dion’s popular statement also illustrate a serious concern in the bioinformatics era: the movement in the direction of non-negotiated, truth-checked, expert-curated information. Viewed from this perspective, some bright spots also emphasize some daunting challenges which are currently riveting a compelling struggle.
Public awareness of SPS has been advanced by the celebrity diagnosis of Celine Dion in 200Celine was diagnosed in 2007 at the University of California-Los Angeles (UCLA), and her story has garnered attention through numerous public statements and media content. Additionally, her charitable foundation made a donation to a non-profit organization focused on SPS. The publicity created by Celine’s diagnosis has made the condition more widely known, which has been to the benefit of the SPS community. High-profile patient advocacy brings media coverage and also raises society’s awareness, brings experience and perspective, and encourages fundraising support. An analogy can be made with the ALS “Ice Bucket Challenge” where public interest and financial support skyrocketed following a number of celebrity diagnoses. These helped to break the myth that brain development could predict ALS victim residual strength, since in most cases strength quickly degraded.
Treatment and Management of Stiff-Person Syndrome
The underlying cause of Stiff-person syndrome is not known. The disease is often difficult to diagnose and is often misdiagnosed as a psychological disorder. The diagnosis of Stiff-person syndrome (SPS) is established after a thorough clinical evaluation, a detailed patient history, and various specialized tests that measure the levels of specific antibodies. The gold standard for a diagnosis of SPS is the detection of antibodies to a protein called glutamic acid decarboxylase using a radiolabeled antigen-specific assay. However, SPS is often diagnosed based on the presence of characteristic signs and symptoms. The main symptoms are muscle rigidity, involuntary muscle spasms, altered walking, low bone mass, and frequent bone fractures, and autoimmune diseases, such as Graves’ disease or type 1 diabetes. Treatment for SPS is largely symptomatic and supportive and includes high-dose muscle relaxants such as benzodiazepines, anti-spastic agents, and various other drugs. Therapeutic modalities are selected based on the signs and symptoms present in each patient. Prompt recognition of the symptoms followed by appropriate treatment is the best way to prevent long-term neurologic problems.
Stiff-person syndrome can be a challenging condition to diagnose and manage because of its rarity and the wide clinical variability among patients. Making a correct diagnosis often involves ruling out other conditions, such as Parkinson’s disease, that can cause similar muscular rigidity. No imaging test, such as MRI or CT, can confirm the diagnosis, but an immune assay for autoantibodies directed against GAD65 (glutamic acid decarboxylase 65kD) is positive in the majority (about 80%, type IA or classic form) of people with classic features of SPS. Most of the remaining people with SPS have other immune-related neurologic symptoms, such as cerebellar ataxia and/or ocular complaints, but about 20% do not. Oral muscle relaxants, such as Valium, baclofen, or dantrolene, may be moderately effective, but if a person has other specific symptoms related to the immune class, appropriate therapy now exists. Intravenous immune globulin, plasma exchange, or one specific immune system modulator, rituximab, can also help in some people.
Medical Interventions
Immunomodulation: There are no universally effective treatments for Stiff-Person Syndrome (SPS). The cornerstone of medical therapy for this condition is immunomodulation, and the first-line therapy often includes IVIg or plasmapheresis. 75-85% of patients respond to IVIg, while 20-25% of patients respond to plasmapheresis but only for a short period. Both treatment modalities have not been compared in randomized studies. Often an IVIg taper occurs after an acute rejection in order to preserve long-term gains but tapering often results in relapse and the medication has to be continued. The high rate of reinstitution of IVIg and relatively short-term relief with plasmapheresis, the associated infection and line replacement, and the higher financial burden may necessitate extending therapy to include maintenance plasmapheresis as well.
Stiff-Person Syndrome (SPS) is a rare neurological condition which is classically characterized by extreme muscle stiffness in the trunk and limbs, as well as a heightened sensitivity to external stimuli. To understand the medical interventions for SPS, and Diane’s specifically tailored regimen bill, it is crucial to first understand modern treatment approaches for the disorder. The foundation of treatment therapy is immunomodulation, either via intravenous immunoglobulin or plasmapheresis. Patients have often been prescribed benzodiazepines and muscle relaxants, baclofen, and diazepam, with varying degrees of relief. Drugs that help support the GABA receptors, as well as antioxidants like Co-enzyme Q10, are often encouraged. Physical therapy and yoga have been beneficial. The long-term damage to the GABA-ergic pathways from chronic overstimulation requires a long-term medical approach and a withdrawal schedule.
Conclusion
The syndrome battles causes a constant state of contraction, or muscle stiffness in the major muscle groups. This creates constant pain, both physically and emotionally, in addition to the spasms. It affects sleep patterns and the body’s natural rhythms, causing feelings of tiredness, depression, and chronic fatigue. Speculation is that a deeply traumatic, devastating event or accident has a direct correlation to the onset of this currently incurable, mysterious condition. Celine Dion collapsed while performing due to the tremendous pain from a muscle spasm and had to be carried off the stage. It is likely fibromyalgia was the fuel behind her collapse.
Celine Dion learned to manage her new normal with great care and thought for what is best for her health. She is strong and continues to work hard. This year, even with COVID-19, she was able to have some performances. Celine attributes it to reset and recalibrate her metaphorical internal thermostat. She was diagnosed with Stiff-Person Syndrome. Just like others with the condition, she learned that to remain as upright as possible she should maintain a purposeful regimen of physical therapy, exercise, and movement of her muscles, and fibromyalgia.
Impact of Celine Dion’s Journey
Celine Dion and her husband, René Angélil, managed her SPS symptoms in remarkable ways that have had a huge positive impact. She has been able to perform over 100 performances a year during the last decade, including a highly successful five-year Las Vegas residency. The couple opted for extensive treatments, excellent medical care, and holistic medical, nutritional, and mood strategies. In gratitude to the global community that has shown overwhelming love and appreciation for her and the strength of her husband and children, she has beautifully managed her condition. She had the freedom to use music and performance as a way to cope with her condition. Her family has shaped a sense of normalcy and rich, loving lives. She will go down in history not just for her memorable music hits, but for inspiring strength, hope, and good disease-state management. She truly is a Canadian national treasure.
Celine Dion’s personal journey and her decision to publicly verbalize her health struggles with SPS have brought increased attention to the syndrome and the unique kind of pain that people suffering from SPS endure. As a result of her willingness to advocate for greater SPS awareness, more medical research is being conducted to better understand and treat the condition. This is not just essential for people with SPS. Celine Dion and Mr. Angelil, like many other public figures, are patient advocates for those who silently suffer from rare diseases. Their bravery and persistence in educating the public about the challenges that people with SPS face have created a pathway to medical and psychological help, as well as emotional support for individuals wrestling with difficult diagnostic and therapeutic journeys. We are thankful to Celine Dion and other public figures like her who create hope, awareness, and research for disease states that can be challenging, alienating, and hopeless.
