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A bit of-known neurological dysfunction has been thrust into the highlight after a documentary revealed singer Celine Dion’s battle with stiff person syndrome (SPS).
The disease is rare, affecting just one or two folks for each million. Yet for individuals who are recognized, it may possibly have a devastating influence, inflicting muscle rigidity, ache and spasms.
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Two people who find themselves dwelling with stiff person syndrome — Carrie Robinette, 45, from San Diego, California, and Corwyn Wilkey, 44, who lives in Anchorage, Alaska — shared with Fox News Digital the particulars of their expertise.
Path to prognosis
Robinette, a Navy spouse and mom who was working as a full-time protection advisor, had been dealing with a number of health issues — ache, neuropathy, fatigue, migraines, bronchial asthma, allergic reactions, thyroid and endocrine points, kidney points, even most cancers — for greater than 15 years.
“I was honestly ‘always sick’ from the time I was born,” she stated in a telephone interview with Fox News Digital.
Two people who find themselves dwelling with stiff person syndrome — Carrie Robinette, 45, from San Diego, California, at left, and Corwyn Wilkey, 44, who lives in Anchorage, Alaska, proper — shared with Fox News Digital what their experiences have been. (Carrie Robinette/Corwyn Wilkey)
“Also, even as far back as high school, I had incredibly tight muscles in my legs, and there were countless times that I woke up crying with charley horse cramps in my calves.”
Then, in May 2023, Robinette started experiencing painful, full-body spasms.
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That kicked off a 12 months of testing and visits to specialists in rheumatology, nephrology, endocrinology and neurology.
“After learning more and going back through my medical history, we realized that symptoms we previously blamed on other causes were likely early signs of stiff person syndrome.”
Over the final 12 months, as Robinette’s “constellation of symptoms” intensified, the docs lastly narrowed it down.
“It is beyond frustrating to literally not know at the start of each day if it will be a good day or a bad day.”
“There is not a consensus within the SPS community on exact diagnostic criteria, and some doctors seem hesitant to diagnose rare diseases, so the journey to diagnosis is complicated by how rare the illness is,” Robinette stated.
“Definitive testing is not readily available.”
Robinette, at left, receives remedy for her stiff person syndrome at a San Diego hospital. (Carrie Robinette)
These days, Robinette’s largest problem is frequent pain.
“Even if my body is not actively spasming, it feels like my muscles are sore, even bruised — all day, every day,” she stated. “I think eventually, we grow accustomed to our pain, so it just becomes the new normal.”
Some days, Robinette can stroll and transfer “almost like normal,” whereas different days she will’t stroll with no cane or walker.
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She commonly makes use of a mobility chair when touring any distance past 50 toes.
“It is beyond frustrating to literally not know at the start of each day if it will be a good day or a bad day.”
‘Initial signs’
Wilkey, a father of younger kids who works as an interpretive media publications specialist for Alaska State Park and can also be a singer, first observed muscle spasms in his larynx whereas performing with his band.
As a musician, Corwyn Wilkey stated his signs share some similarities to Celine Dion’s. “My initial symptoms were throat and facial spasms that have progressed into full-body seizures,” he informed Fox News Digital. (Corwyn Wilkey)
“Like Celine Dion, my initial symptoms were throat and facial spasms that have progressed into full-body seizures,” he informed Fox News Digital by way of e mail.
Wilkey was formally recognized with stiff person syndrome in 2021 at the Mayo Clinic in Rochester, Minnesota.
“The most prominent physical challenges are muscle stiffness and rigidity, seizure-like muscle spasms, cognitive distortion and decline, chronic pain and fatigue, PTSD, loss of coordination and fine motor control, headaches, joint pain, back pain, and inability to coordinate my body the way I want to,” he stated.
Wilkey’s full-body spasms are generally robust sufficient to dislocate and even fracture bones, he stated.
James Chung, M.D., PhD, chief medical officer at Kyverna Therapeutics in Emeryville, California, famous that prognosis of stiff person syndrome is a posh course of. (He has not handled both of the patients talked about on this article.)
James Chung, M.D., PhD, chief medical officer at Kyverna Therapeutics in Emeryville, California, stated a prognosis of stiff person syndrome is a posh course of. (Dr. James Chung)
“We start with a detailed clinical evaluation, looking for characteristic muscle rigidity and spasms,” Chung, who focuses on drug growth for autoimmune ailments, informed Fox News Digital by way of e mail.
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Blood exams are additionally wanted to detect the antibodies which are present in a majority of circumstances, he stated.
“Given the rarity of SPS, patients often feel misunderstood, even by health care professionals.”
“Electromyography (EMG) is essential, showing continuous motor unit activity in affected muscles,” he stated.
In many circumstances, docs will carry out a lumbar puncture (spinal faucet) to analyze cerebrospinal fluid for elevated antibodies and to rule out different circumstances, along with imaging scans.
“SPS is often a diagnosis of exclusion due to its rarity,” Chung stated.
Limited therapies
While there may be at present no treatment for stiff person syndrome, therapies will help handle signs and enhance patients’ high quality of life.
Treatments are extremely personalised for every affected person, in accordance to Chung.
Robinette exhibits what her life seems like with SPS. “For now, unfortunately, I am currently battling my condition without any helpful medications.” (Carrie Robinette)
In most circumstances, patients take drugs like diazepam and baclofen to scale back muscle stiffness and spasms, and should take intravenous immunotherapies to assist scale back autoantibodies.
“Pain administration typically includes a combination of medications,” Chung stated. “Physical and occupational therapy are vital.”
Some present drugs can have intense unintended effects, nevertheless.
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Robinette has skilled hallucinations, lack of muscle management, nausea, vomiting and mind fog.
“For now, unfortunately, I am currently battling my condition without any helpful medications, and it is nearly unbearable,” she stated.
Kyverna Therapeutics is at present creating a brand new CAR-T cell remedy, KYV-101, that goals to “reset” the immune techniques of patients with autoimmune ailments, in accordance to Chung.
Wilkey, pictured with his kids, endured a darkish time after his prognosis. “I lost everything — my marriage, all my money, my home and even my children for a time,” he stated. (Corwyn Wilkey)
“This approach could potentially offer a more targeted treatment that addresses the root cause of SPS rather than just managing symptoms,” he stated.
The drug has not too long ago gotten FDA approval to enter part 2 medical trials.
“I can really see it being the life-changing treatment that so many people with SPS and other autoimmune conditions need,” stated Robinette. “I simply want science moved faster!”
Mental and emotional results
Many patients with stiff person syndrome battle with nervousness about experiencing spasms in public, which regularly leads to social isolation, in accordance to Chung.
“Depression is common, stemming from power ache, lack of independence and the disease’s unpredictable nature,” he informed Fox News Digital.
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“Patients also frequently experience frustration with the medical system due to misdiagnosis or dismissal of symptoms,” he added.
“Given the rarity of SPS, patients often feel misunderstood, even by health care professionals.”
When Wilkey acquired his prognosis, he struggled with treatment-resistant despair, PTSD and complicated regional ache syndrome, he informed Fox News Digital.
“This past year, on my journey with SPS, my family and I have really been put through the wringer,” Robinette informed Fox News Digital. (Carrie Robinette)
“The difficulties associated with the disease destroyed my marriage and, for a time, turned me into a rage monster,” he stated.
“It has felt very much like receiving a death sentence.”
To deal with his “incredible” ache, Wilkey was prescribed oxycodone and morphine, which finally led to addiction.
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“I became unable to function and felt like a burden on my family, which led me to attempt suicide,” he stated.
Wilkey underwent a interval of hospitalization, intensive remedy and ache rehabilitation packages.
“I misplaced the whole lot — my marriage, all my cash, my residence and even my children for a time,” he stated.
Today, Wilkey continues to take part in palliative care remedy, in addition to psychedelic-assisted remedy for PTSD and despair. (Corwyn Wilkey)
Today, Wilkey continues to take part in palliative care remedy — as SPS is taken into account a progressive and terminal disease — in addition to psychedelic-assisted remedy for PTSD and depression.
Robinette has additionally skilled psychological and emotional challenges stemming from her disease.
“This past year, on my journey with SPS, my family and I have really been put through the wringer,” she informed Fox News Digital.
“It takes a toll to feel like you are in a medical crisis and yet know that even if you go to the hospital, no one will help you.”
“Seizing, in 10 out of 10 pain, losing control of muscles, and having the body twist and contort into a terrifying, seemingly endless episode — some of these events last 10 to 60 minutes, which feels like an eternity.”
The hardest half, she stated, is that some docs have informed her, “It could be in your head,” or “We can’t help you because we aren’t sure what it is.”
“It takes a toll to feel like you are in a medical crisis and yet know that even if you go to the hospital, no one will help you,” Robinette stated.
Celine Dion was recognized with stiff person syndrome in 2022. (Neilson Barnard/Getty Images for The Recording Academy)
“I think it would make a world of difference to SPS patients to not have the added stress of having to constantly have to advocate for care.”
Stress management is essential for SPS patients, Chung stated, as emotional stress can set off or worsen spasms.
“Supporting mental health is a key component of comprehensive SPS care.”
Who is most in danger?
Stiff person syndrome is a progressive and finally terminal neuromuscular autoimmune disease.
SPS exhibits sure demographic patterns, Chung stated.
“It is incredibly empowering to know that you are not alone.”
“Women are more commonly affected, with a 2:1 ratio compared to men,” he stated.
The typical age of prognosis is between 30 and 60 years of age.
“There’s a strong association with other autoimmune disorders,” Chung stated, which might complicate the prognosis course of.
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“About 30% to 40% of SPS patients have type 1 diabetes, and we see larger charges of thyroiditis, vitiligo and pernicious anemia,” the physician went on.
“This clustering suggests a genetic predisposition to autoimmunity, although we haven’t identified specific genes for SPS.”
Advice for dealing with a prognosis
For those that reside with stiff person syndrome, Chung stated the greatest plan of action is to get schooling from dependable sources and to construct a robust help community.
“Work carefully with a multidisciplinary medical team, be proactive in your remedy and talk overtly with your well being care suppliers,” he suggested.
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The physician additionally really useful training stress-reduction methods and staying as bodily lively as safely potential below skilled steering.
Robinette is pictured with her husband, Jared Robinette, who she stated has given her “incredible support” all through her battle with stiff person syndrome. “He has been at my side through every terrifying episode,” she stated. “He has gone above and beyond caring for me. I am truly lucky to have such a kind and thoughtful partner.” (Carrie Robinette)
Wilkey’s greatest recommendation: “Don’t try and go it alone.”
He stated, “You will drive yourself insane and beat your head against the wall, trying to cope on your own. Connecting with other survivors and developing a solid support system of crucial allies is essential.”
For Robinette, sharing her story has been a useful coping mechanism.
“It is incredibly empowering to know that you are not alone,” she stated.
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“I believe that the more our voices rise, the more chance we all have of being heard.”
Those in search of extra data and sources for stiff person syndrome can go to The Stiff Person Syndrome Research Foundation at www.stiffperson.org.
