Bob Saget’s Battle Against Scleroderma, the Autoimmune Disease that Took His Sister’s Life

Actor Bob Saget was an advocate for scleroderma research, raising over $25 million to find a cure. Image courtesy of the Scleroderma Foundation.

Bob Saget, the beloved Full House actor who recently passed away, battled against a little-known autoimmune disease prior to his passing. The condition was scleroderma, and it was responsible for the passing of his older sister Gay Saget at the young age of 47.

Gay was diagnosed with scleroderma at age 44, a mere three years before her passing. She had suffered from unrelenting symptoms for years before her diagnosis, however, but doctors couldn’t pinpoint the cause. Her brother Bob had commented on his sister’s diagnosis journey, saying: “She had a lot of fatigue…it felt like her skin was on fire. She went to regular medical doctors that said that it could be lupus, it could be mental illness, it could be Epstein-Barr. They named everything except what it was.”  

Gay’s frustrating journey to diagnosis is no outlier in the chronic illness community. Many patients with chronic illnesses such as autoimmune diseases go years without a diagnosis, until their symptoms become severe enough to be diagnosed.

Dr. Fred Wigley, a professor of medicine at Johns Hopkins University, has studied scleroderma for the past 45 years. “[Scleroderma] can be a very terrible multi-system disease, but not in every patient,” Dr. Wigley said. With scleroderma, the body over-produces collagen, impairing the functioning of various organs. Common symptoms of the condition include tightening of the skin, finger and toe pain, arthritis, muscle weakness and trouble swallowing. It can also damage internal organs, especially the lungs.  

Gay was among approximately 300,000 Americans living with the disease. About 80% of these patients are women, most commonly between the ages of 30 and 50. The disease tends to be more severe in patients of color, for unknown reasons.

Bob said that his sister was treated with steroids, like prednisone and cortisone, but that the drugs failed to relieve her symptoms, and did not get to the root cause of the disease. “She got treatment, but it was just treating her symptoms…She had to move to Los Angeles to live with my parents because she needed so much help,” he had explained. 

There are multiple different types of scleroderma, with localized being the most common and more mild type. With localized scleroderma, the internal organs are rarely involved, and it primarily affects the skin. Systemic scleroderma is the less common type, affecting about 30% of patients living with the condition. This is the type that Bob Saget’s sister had, which impacts one’s connective tissues and internal organs.

Since scleroderma was a cause that was very dear to his heart, Bob Saget focused on raising funds for the Scleroderma Research Foundation, which aims to find a cure for this debilitating autoimmune disease. In total, he raised over $25 million for the foundation prior to his passing, leveraging his fame and Hollywood connections to garner donations from big-name celebrities like John Mayer, Rob Williams and Dave Chappelle.

“For me, it’s an homage to [my sister], and somehow telling her that her life had a real purpose,” Saget had said. He continued, “I have a lot to live up to. I feel like, to really do her justice, is to really make huge strides in the next decade or two and to really help these sweet, innocent victims with this disease.” 

In light of Bob Saget’s passing, his family members asked friends and fans to remember him by making a donation to charities benefitting patients with scleroderma. To make a donation in Bob Saget’s memory to the Scleroderma Research Foundation, see the official in memory webpage. Donations will be matched up to $1.5 million.

Multiple Sclerosis is Likely Caused by a Virus, Says Study

US military study suggests that the Epstein-Barr virus may be a leading cause of Multiple Sclerosis (MS). Image courtesy of HealthCentral.

Multiple Sclerosis (MS), a debilitating autoimmune disease, may in fact be caused by a virus, suggests a new study published in Science by Harvard Medical School Researchers.

The researchers tested a cohort of more than 10 million young adults on active duty in the US military between 1993 and 2013. During this 20-year timeframe, 955 individuals were diagnosed with MS over the course of their period of service. The researchers found that the risk of MS increased 32-fold after infection with the Epstein-Barr virus, known as EBV for short.

MS is a chronic inflammatory demyelinating disease of the central nervous system. The chronic inflammation occurs when the immune system mistakenly attacks the protective sheath (myelin) that covers nerve fibers, causing communication problems between your brain and the rest of your body. According to the Mayo Clinic, the disease can eventually cause permanent damage or deterioration of the nerves. Other symptoms include vision problems, slurred speech, fatigue, dizziness, tingling or pain in parts of the body, and bowel, bladder, and sexual dysfunction.

Multiple Sclerosis and the Epstein-Barr Virus

Although the exact cause of multiple sclerosis is unknown, it has long been hypothesized that the demyelination in the brain and spinal course is triggered by a viral infection. This particular study found that serum levels of neurofilament light chain, a biomarker of neuroaxonal degeneration, increased only after EBV seroconversion, suggesting that EBV is a leading cause of MS. However, the risk of MS was not increased after infection with other viruses, such as the cytomegalovirus (CMV); the researchers had also compared samples to CMV positivity as a negative control group, and found that CMV positivity was actually associated with a lower risk of MS.

“The key finding is that MS is a complication of infection with EBV,” said Alberto Ascherio, a professor of epidemiology and nutrition at Harvard’s T.H. Chan School of Public Health. Commenting on the size and longevity of the study, Ascherio said: “There is no comparable population in the world.”

Stanford University researchers believe that molecular mimicry may be the culprit behind why those infected with Epstein-Barr have a higher risk of developing MS. Molecular mimicry occurs when immune cells targeting EBV accidentally attack myelin, due to the molecular similarities between the virus and this tissue. A 2018 study identified EBV-infected B cells in the brains of MS patients, lending support to the molecular mimicry theory.

Deficiency of vitamin D from the sun may also play a role in the development of MS. Image courtesy of Minnesota Oncology.

Multiple Sclerosis: Vitamin D Deficiency and Genetic Factors

It’s unlikely that EBV is the sole reason behind the development of MS, however. The study suggests that EBV seropositivity is necessary to develop MS, but it isn’t sufficient – otherwise, 95% of the world’s population would have MS, since the virus is prevalent worldwide. According to the UK-based Multiple Sclerosis Trust, an estimated 2.5 million people worldwide have multiple sclerosis. So why do only some people develop MS and not others?

Another theory about the development of MS is vitamin D deficiency. Vitamin D, also known as the sunshine vitamin, may be a protective compound against the development of MS; it has been found, for instance, that the distribution of MS around the world is uneven; generally, the prevalence of the disease increases as you travel further north or south from the equator. The parts of Asia, Africa and America that lie on the equator have extremely low levels of MS, while Canada and Scotland have particularly high rates. This suggests that vitamin D, particularly from the sun, is important in preventing MS, possibly due to its anti-inflammatory properties.

Other studies have shown that certain ethnic groups have a markedly lower prevalence of MS, despite living in places where the disease is more common. For example, the Sami or Lapps of northern Scandinavia, the Inuits of Canada and Greenland (Denmark), and the Maoris of New Zealand exhibit very low rates of MS, despite living in some of the northernmost and southernmost climates in the world.

The Inuit people of Canada and Greenland have very low rates of MS among their population, despite living in some of the northernmost regions of the world. Photo courtesy of The Paleo Diet.

Multiple Sclerosis and Diet

Another theory that has evolved is the relationship between Multiple Sclerosis and one’s diet. As noted above, many northernmost communities do not get sufficient vitamin D from the sun, due to their local climate. However, they make up for this by consuming a vitamin D-rich diet; for example, fish and marine mammals like seal and whale. These foods are also rich in healthy omega-3 fatty acids, which are also known to have anti-inflammatory properties and may help other autoimmune conditions beyond MS, like rheumatoid arthritis, Crohn’s disease, ulcerative colitis, and systemic lupus erythematosus.

Although considered controversial to some, Dr. Terry Wahls, who has multiple sclerosis herself, developed a dietary approach to treating autoimmune conditions with paleo principals, which she calls the Wahls Protocol.

New Ways to Treat MS

Ascherio, for his part, believes that his team’s groundbreaking research on the connection between viruses like Epstein-Barr and MS could pioneer the development of new multiple sclerosis treatments. For example, immunosuppressive therapies that deplete B cells infected by EBV.

There is also renewed interest in developing vaccines and antivirals against EBV with the objective of eradicating MS. While antivirals targeting EBV don’t yet exist, Ascherio says their development is realistic: “Once you establish the causal connection, I think it’s a question of providing sufficient rational for research on antivirals, specifically for EBV, that could help people with MS [around] the world,” he concluded.

Woman with Rare Autoimmune Disease Affecting Eyes Describes Diagnosis Journey

Emma Zaks was a 33-year-old fitness instructor when she began experiencing debilitating symptoms of a rare, undiagnosed autoimmune disease.

Emma Zaks was 33 years old and living in New York City. As a fitness instructor at SoulCycle, she taught up to 18 spin classes per week, and was in terrific shape. That’s why Zaks was taken by surprise when, in the middle of teaching a spin class, she had to leave to throw up. Unable to continue the class with the debilitating stomach pains and nausea she was experiencing, she took an ambulance from her work to the ER.

After a few tests, including a colonoscopy, an endoscopy, and CT scans, Zaks was told that she likely had an infection affecting her stomach or intestines, and was given antibiotics and discharged after a six-day stay in hospital. The antibiotics didn’t work, however, and she woke up to a terrifying sight in the mirror: her right eye was pointing sideways. She was also seeing double.

Zaks woke up to impaired vision as a result of a stroke. She didn’t know it yet, but she suffered from a rare autoimmune disease.

Zaks later learned that she had had a stroke. Doctors prescribed her steroids, and covered her right eye with an eye patch to help her see straight. She was discharged from hospital, but Zaks’ troubling symptoms continued. “I found myself back at home, sicker than I’d ever been, and without a single real explanation. For two weeks, I lived and worked with continuing pain,” she explained.

She returned to the ER a third time, and an X-ray revealed that she had a stricture – her small intestines were abnormally narrow and had twisted around themselves, preventing anything from passing through. She received laparoscopic surgery to correct the stricture, and a biopsy to explore her condition further.

While awaiting her biopsy results, Zaks had an MRI done, which revealed a small lesion in her brain that controls eye movement and direction. Both her MRI and biopsy results lead doctors to diagnose Zaks with an autoimmune disease known as Wegener’s Vasculitis, or Granulomatosis with polyangiitis. The autoimmune condition had caused her stroke and her initial gastrointestinal issues.

Zaks went from being an active fitness instructor to a ‘shell’ of her former self.

“In a matter of months I’d become a shell of myself both externally and internally,” Zaks said. Her new treatment regimen included intense steroids and Rituxan infusions. She dropped to 95 pounds, was extremely weak, and always off balance due to her compromised vision.

Doctors offered few treatment options for her wayward right eye – which at this point, had been pointed sideways for a year. One medical provider even suggested Botox as a way to paralyze her eye muscles. Thankfully, she eventually found a physician that performed strabismus surgery, sewing the eye muscle to the wall of her eye, thereby fixing her vision.

Zaks was able to return to her job as a SoulCycle fitness instructor, and is grateful for her newfound health. “Since the surgery, I have to remind myself not to take for granted the everyday activities that used to drive me to tears in frustration,” she reflected.

Something else that has caused Zaks to reflect is the medical gaslighting she went through as part of her journey to diagnosis. “Knowing what I know now, I wish I had pushed harder for more answers, but who was I to question these doctors?” she lamented. “I hate confrontation and wanted to be a ‘good patient’ who was liked. So I took the prescriptions and advice to rest and went home, hoping for the best. Needless to say, things didn’t get better.”

Zaks believes it’s important to advocate for yourself as a patient, and trust your gut instinct. “If I had just listened to the initial diagnosis and prognosis, I would still be wearing an eye patch,” she declared.

To learn more about Zaks and her battle with Granulomatosis with polyangiitis, listen to her interview on the podcast Pregnantish.