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.

9/11 Survivors May Be At Greater Risk of Developing Autoimmune Diseases

Jennifer Waddleton, 51, is suffering from an autoimmune disease after serving as a 9/11 first responder. Image courtesy of NBC news.

Jennifer Waddleton, 31, was working as a paramedic in emergency medical services when she was called to ground zero in New York City on September 11, 2001, after the devastating terrorist attacks on the twin towers. Waddleton is among an estimated 400,000 people who were exposed to toxic debris after the collapse of the towers.

At the time, Waddleton didn’t realize the impact that responding to the event had had on her physical and mental health. Now, however, things are different. She can barely stand for more than 30 minutes at a time or tolerate sunlight. She has brain lesions, her hair is falling out, and her teeth are deteriorating.

“My body is failing me at 51,” said Waddleton, who was diagnosed with cancer, chronic acid reflux, sinus issues, and post-traumatic stress disorder (PTSD). But Waddleton began to experience other symptoms that couldn’t be explained by these diagnoses, including crippling fatigue, chronic migraines, and difficulty swallowing. She knew something wasn’t right.

“In the back of my head, I always knew,” she said. “But everyone was like: ‘No, there’s nothing wrong with you. It’s all in your head. You need sleep, you work crazy hours. Stop complaining’.”

Despite dealing with medical gaslighting for years, Waddleton eventually had kidney failure, and doctors couldn’t deny her poor health any longer. She was diagnosed with systemic lupus erythematosus (SLE) in 2012, 11 years after responding to 9/11. Lupus occurs when the body’s own immune system attacks and damages its organs and tissues.

Before being diagnosed, Waddleton was concerned that her troubling symptoms were somehow related to her experience as a 9/11 responder, and if there were others out there experiencing the same thing. According to several research studies, Waddleton’s concerns are valid; autoimmune diseases do appear to be on the rise among 9/11 victims and first responders alike.

Autoimmune diseases may have been triggered among 9/11 victims as a result of exposure to toxic dust at the scene. Crystalline silica, a construction mineral and major component of the debris, is a noted risk factor for autoimmune disorders. Other chemicals found on-site, like organic hydrocarbon solvents and asbestos, have also been associated with immune dysfunction. A 2015 study found that for every month a first responder worked on the World Trade Center site, the risk of developing an autoimmune disease rose by 13%. A 2019 study based on over 43,000 World Trade Center Health Registry participants found that first responders with intense exposure to the toxic dust were almost twice as likely to develop systemic autoimmune diseases. The most frequently diagnosed autoimmune conditions were rheumatoid arthritis, Sjogren’s syndrome, lupus, myositis, mixed connective tissue disease, and scleroderma.

The same 2019 study also purported that PTSD may also be responsible for triggering autoimmune disorders among 9/11 victims and first responders. This confirms other research on the connection between chronic stress, adverse childhood experiences (ACEs), and autoimmune disease.

Many victims of 9/11 can have their health insurance covered or receive a financial payout from the September 11th Victim Compensation Fund and the World Trade Center Health Program. However, autoimmune diseases are not acknowledged by the compensation fund nor the health program. This means that those who suffer from autoimmune diseases are ineligible for free health care, and cannot receive compensation for their suffering. Most of the covered conditions on the list include acute injuries, lung conditions, cancer, and mental health issues.

Multiple petitions among 9/11 victims have requested to have autoimmune diseases added to the list of covered conditions, to no avail; the federal government has cited lack of sufficient evidence proving the link between autoimmunity and exposures from 9/11. Another issue is that autoimmune diseases may have a genetic component, making it even more difficult to prove that the development of these conditions was caused by exposures during 9/11, and not the patients’ own genetic makeup.

So for now, first responders like Waddleton will have to wait until the research catches up. Waddleton manages a Facebook group for 9/11 emergency responders who have suffered from autoimmune diseases after the event, and has seen first-hand the effects that it’s had on these patients.

“It’s incredibly frustrating,” she said. “They left everyone else hanging. This wasn’t supposed to be my life.”

To read more about this story, visit the NBC news website.