Health
Stiff person syndrome patients share what it’s like to live with the rare disease
This story discusses suicide. If you or someone you know is having thoughts of suicide, please contact the Suicide & Crisis Lifeline at 988 or 1-800-273-TALK (8255).
A little-known neurological disorder has been thrust into the spotlight after a documentary revealed singer Celine Dion’s struggle with stiff person syndrome (SPS).
The disease is rare, affecting only one or two people for every million. Yet for those who are diagnosed, it can have a devastating impact, causing muscle rigidity, pain and spasms.
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Two people who are living 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 details of their experience.
Path to diagnosis
Robinette, a Navy wife and mother who was working as a full-time defense consultant, had been dealing with multiple health issues — pain, neuropathy, fatigue, migraines, asthma, allergies, thyroid and endocrine issues, kidney issues, even cancer — for more than 15 years.
“I was honestly ‘always sick’ from the time I was born,” she said in a phone interview with Fox News Digital.
“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 began experiencing painful, full-body spasms.
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That kicked off a year 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 last year, as Robinette’s “constellation of symptoms” intensified, the doctors finally 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 said.
“Definitive testing is not readily available.”
These days, Robinette’s biggest challenge 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 said. “I think eventually, we grow accustomed to our pain, so it just becomes the new normal.”
Some days, Robinette can walk and move “almost like normal,” while other days she can’t walk without a cane or walker.
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She regularly uses a mobility chair when traveling any distance beyond 50 feet.
“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 symptoms’
Wilkey, a father of young children who works as an interpretive media publications specialist for Alaska State Park and is also a singer, first noticed muscle spasms in his larynx while performing with his band.
“Like Celine Dion, my initial symptoms were throat and facial spasms that have progressed into full-body seizures,” he told Fox News Digital via email.
Wilkey was officially diagnosed with stiff person syndrome in 2021 at the Mayo Clinic in Rochester, Minnesota.
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“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 said.
Wilkey’s full-body spasms are sometimes strong enough to dislocate and even fracture bones, he said.
James Chung, M.D., PhD, chief medical officer at Kyverna Therapeutics in Emeryville, California, noted that diagnosis of stiff person syndrome is a complex process. (He has not treated either of the patients mentioned in this article.)
“We start with a detailed clinical evaluation, looking for characteristic muscle rigidity and spasms,” Chung, who focuses on drug development for autoimmune diseases, told Fox News Digital via email.
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Blood tests are also needed to detect the antibodies that are found in a majority of cases, he said.
“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 said.
In many cases, doctors will perform a lumbar puncture (spinal tap) to analyze cerebrospinal fluid for elevated antibodies and to rule out other conditions, along with imaging scans.
“SPS is often a diagnosis of exclusion due to its rarity,” Chung said.
Limited treatments
While there is currently no cure for stiff person syndrome, therapies can help manage symptoms and improve patients’ quality of life.
Treatments are highly personalized for each patient, according to Chung.
In most cases, patients take medications like diazepam and baclofen to reduce muscle stiffness and spasms, and may take intravenous immunotherapies to help reduce autoantibodies.
“Pain management often involves a combination of medications,” Chung said. “Physical and occupational therapy are vital.”
Some current medications can have intense side effects, however.
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Robinette has experienced hallucinations, loss of muscle control, nausea, vomiting and brain fog.
“For now, unfortunately, I am currently battling my condition without any helpful medications, and it is nearly unbearable,” she said.
Kyverna Therapeutics is currently developing a new CAR-T cell therapy, KYV-101, that aims to “reset” the immune systems of patients with autoimmune diseases, according to Chung.
“This approach could potentially offer a more targeted treatment that addresses the root cause of SPS rather than just managing symptoms,” he said.
The drug has recently gotten FDA approval to enter phase 2 clinical trials.
“I can really see it being the life-changing treatment that so many people with SPS and other autoimmune conditions need,” said Robinette. “I just wish science moved faster!”
Mental and emotional effects
Many patients with stiff person syndrome struggle with anxiety about experiencing spasms in public, which often leads to social isolation, according to Chung.
“Depression is common, stemming from chronic pain, loss of independence and the disease’s unpredictable nature,” he told 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 received his diagnosis, he struggled with treatment-resistant depression, PTSD and complex regional pain syndrome, he told Fox News Digital.
“The difficulties associated with the disease destroyed my marriage and, for a time, turned me into a rage monster,” he said.
“It has felt very much like receiving a death sentence.”
To treat his “incredible” pain, Wilkey was prescribed oxycodone and morphine, which ultimately 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 said.
Wilkey underwent a period of hospitalization, intensive therapy and pain rehabilitation programs.
“I lost everything — my marriage, all my money, my home and even my children for a time,” he said.
Today, Wilkey continues to participate in palliative care therapy — as SPS is considered a progressive and terminal disease — as well as psychedelic-assisted therapy for PTSD and depression.
Robinette has also experienced mental 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 told 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 part, she said, is that some doctors have told 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 said.
“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 crucial for SPS patients, Chung said, as emotional stress can trigger or worsen spasms.
“Supporting mental health is a key component of comprehensive SPS care.”
Who is most at risk?
Stiff person syndrome is a progressive and ultimately terminal neuromuscular autoimmune disease.
SPS shows certain demographic patterns, Chung said.
“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 said.
The typical age of diagnosis is between 30 and 60 years of age.
“There’s a strong association with other autoimmune disorders,” Chung said, which can complicate the diagnosis process.
“About 30% to 40% of SPS patients have type 1 diabetes, and we see higher rates of thyroiditis, vitiligo and pernicious anemia,” the doctor went on.
“This clustering suggests a genetic predisposition to autoimmunity, although we haven’t identified specific genes for SPS.”
Advice for handling a diagnosis
For those who are living with stiff person syndrome, Chung said the best course of action is to get education from reliable sources and to build a strong support network.
“Work closely with a multidisciplinary medical team, be proactive in your treatment and communicate openly with your health care providers,” he advised.
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The doctor also recommended practicing stress-reduction techniques and staying as physically active as safely possible under professional guidance.
Wilkey’s best advice: “Don’t try and go it alone.”
He said, “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 helpful coping mechanism.
“It is incredibly empowering to know that you are not alone,” she said.
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“I believe that the more our voices rise, the more chance we all have of being heard.”
Those seeking more information and resources for stiff person syndrome can visit The Stiff Person Syndrome Research Foundation at www.stiffperson.org.
Health
Lack of sleep during pregnancy could impact baby's development, study reveals
Sleep is crucial, especially for pregnant women.
Inadequate sleep during pregnancy can have many negative effects, including neurodevelopmental delays for the child, according to a new study.
The research, which was published in the Endocrine Society’s Journal of Clinical Endocrinology & Metabolism, examined the effects of short sleep duration (SSD) — defined as sleeping fewer than seven hours per night — on pregnant women.
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The China-based researchers analyzed sleep data from 7,059 mother-child pairs from three Chinese hospitals. The children were screened for developmental delays from 6 months to 3 years old.
Insufficient sleep during pregnancy was associated with an increased risk of delays in nervous system development, the researchers found.
“Our findings highlight the importance of addressing sleep quality during pregnancy to potentially mitigate the risk of long-term cognitive and behavioral issues in children,” lead study author Peng Zhu, M.D., of Anhui Medical University and the MOE Key Laboratory of Population Health Across Life Cycle in Hefei, China, told Fox News Digital.
“Additionally, we discovered that cord blood C-peptide levels partially mediate this association, indicating that maternal sleep might impact fetal glucose metabolism and, consequently, the child’s neurodevelopment.”
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The neurodevelopmental delays can lead to slower development of social, emotional, behavioral, motor, cognitive or speech skills, the new study revealed.
Boys, compared to girls, have a higher risk of these issues when their mothers experience SSD, the researchers found.
“This suggests that male fetuses might be more sensitive to the metabolic environment influenced by maternal sleep patterns,” Zhu said.
“This insight could lead to tailored interventions and a deeper understanding of how prenatal factors affect neurodevelopmental outcomes in a sex-specific manner.”
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Pregnant women may have trouble sleeping due to hormonal changes, discomfort, frequent urination and other factors, the Endocrine Society noted in a press release.
Dr. Jillian LoPiano, a Miami-based OB-GYN and chief health officer at the reproductive telehealth platform Wisp, acknowledged that the study measured a “possible biological marker” in neurological development.
“Much more research is needed to assess this relationship, but adequate sleep is known to be associated with proper growth and socioemotional development,” she told Fox News Digital.
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Poor sleep during pregnancy is also associated with other complications, including preeclampsia and gestational diabetes, LoPiano detailed.
“Adequate sleep is known to be associated with proper growth and socioemotional development.”
The expert recommended that pregnant women who are experiencing trouble sleeping consult with a doctor.
She also shared a few simple methods that can help improve sleep, including sleeping in a cool, dark room, minimizing screen time and distractions before bed, having adequate wind-down time, meditating and using support pillows.
The study researchers reiterated the importance of sleep hygiene.
“Pregnant women should be advised on strategies to improve sleep hygiene, such as maintaining a consistent sleep schedule, creating a relaxing bedtime environment, and avoiding caffeine and electronic devices before bed,” Zhu told Fox News Digital.
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The researchers also recommend that health care providers screen pregnant women for sleep quality and provide guidance on achieving sufficient sleep.
“Furthermore, monitoring and managing gestational diabetes, which is linked to sleep patterns, should be emphasized,” Zhu added.
The study did have some potential limitations, the researchers acknowledged.
“As an observational study, we can only establish associations rather than causality,” Zhu told Fox News Digital.
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“Additionally, sleep duration was self-reported, which may introduce some level of bias.”
Future studies with objective sleep measurements and larger sample sizes could help to validate the findings, the researcher added.
Health
Best friends have babies on the same day, at the same hospital: ‘Can’t make this stuff up’
Two best friends in Florida got to experience one of life’s most meaningful experiences together — becoming mothers — and it was caught on camera.
It started in May 2024, when Carolynn Shada announced her pregnancy to her best friend, Kali Gaynor — only to get a surprise of her own when her friend said she was also expecting.
“Our due dates were eight days apart, so we always joked around with the idea that we all could be at the hospital at the same time,” she wrote on Instagram.
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“NEVER did we ever think our BOYS would be born on the same day.”
Yet that’s exactly what happened — in August, the best friends went into labor and delivered their baby boys on the same day, in the same hospital.
“Her precious baby boy was born a bit after 12AM on Tuesday,” Shada wrote of her friend.
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“The hospital we were at was at a max capacity, so a few hours after she birthed her baby they moved her to triage. As morning rolls around, I head to the hospital and was placed in the EXACT room she delivered her baby in. My son was born later that afternoon with the same midwife group.”
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“You can’t make this stuff up!”
Fox News Digital reached out to Shada and Gaynor for comment.
Health
Health, happiness and helping others are vital parts of free and responsible society, Founding Fathers taught
It’s well known that Ben Franklin was a morning person. In his “Poor Richard’s Almanac,” he famously said, “Early to bed, early to rise, makes a man healthy, wealthy and wise.”
But what did Ben Franklin do when he got up early? What was his morning ritual?
That is less well known. In his autobiography, Ben Franklin wrote that the first thing he did when he woke up each day was to ask himself the following question: “What good shall I do this day?” (See the video at the top of this article.)
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I love Ben Franklin’s ritual.
For most of my adult life, my default morning thoughts included questions such as, “What annoying tasks do I have to do this day?” and “What terrible things have happened in the world that I’ll read about when I open my laptop?”
Nowadays, I try instead to do what Ben Franklin advises: I ask myself, “What good can I do today?”
Written on a piece of paper, it now hangs over my desk as a reminder.
This new habit is the result of the year I spent recently trying to live like the Founding Fathers. I wrote about the wisdom I learned in my new book, “The Year of Living Constitutionally.”
“The Founders’ idea of virtue meant public-mindedness. A virtuous person puts the interests of others before their own interests.”
As Franklin’s morning ritual implies, the Founders were obsessed with the idea of virtue.
Nowadays, the word “virtue” has a bit of a cringey and fusty ring to it.
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I hear the word most often used in the phrase “virtue signaling,” which is not a compliment.
“Virtue signaling” refers to someone who is ostentatiously trying to show off how righteous they are by, for instance, loudly asking a waiter about the living conditions of the bees that produced the honey for their oatmeal.
In the Founders’ era, the word virtue had no such mixed connotations.
Virtue was a cherished ideal. In his book “First Principles,” Thomas E. Ricks writes that the Founders used the word virtue about 6,000 times in the collected writings from the Revolutionary era.
That’s more often than the word “freedom.”
“I almost wish the Constitution had a Bill of Responsibilities.”
The Founders’ idea of virtue meant public-mindedness. A virtuous person puts the interests of others before their own interests. A virtuous person focuses on those two key words in the Constitution’s preamble: “General Welfare.”
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I think we’re due for a resurgence of virtue. I know I could use more of it.
As a rule, I’m too focused on my individual rights. Rights are wonderful, and I’m grateful that I live in a country that puts an emphasis on individual rights. But rights come with responsibilities.
I almost wish the Constitution had a Bill of Responsibilities.
The idea of public responsibility, I believe, was more ingrained in the 18th century and didn’t need to be spelled out. You were expected to sacrifice for your community.
If there was a fire, you were expected to be part of the bucket brigade, helping to save your neighbor’s house. If you were a man, you were expected to be a part of your local militia.
“If I’m depressed, I find the best thing to do is to help others. It gets me out of my head.”
When my wife and kids and I wrote a Constitution for our family — an exercise I fully recommend — we included a Bill of Rights, but also a Bill of Responsibilities.
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It’s not about being saintly.
Service actually wasn’t opposed to happiness. It was integral to it.
As Jeffrey Rosen, president of the National Constitution Center, has said, “Happiness wasn’t about feeling good. It was about doing good.”
I find this observation to be true in my own life. If I’m depressed, I find the best thing to do is to help others. It gets me out of my head.
That piece of paper over my desk serves as a moral North Star and helps tamp down my Larry David side.
When I start to get angry about something silly — such as my Instagram post didn’t get enough likes — I can look at the phrase and get a reality check.
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It reminds me of the big picture.
“The Year of Living Constitutionally: One Man’s Humble Quest to Follow the Constitution’s Original Meaning” by A.J. Jacobs (2024) is published by Crown.
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