Scleroderma

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.

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

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*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.

10 Facts About Scleroderma

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Kristine Cruz-Munda is a scleroderma patient who shares her story living with this autoimmune skin condition. Video courtesy of CBS LA.

According to the Scleroderma Foundation, scleroderma is a chronic connective tissue disease, and is generally classified as a rheumatic autoimmune disease. In patients with scleroderma, the body over-produces collagen, reacting as if there were an injury needing repair. This over-production of collagen prevents various organs in the body from functioning normally.

While this condition is poorly understood, there is some information about the disease that we do know. Read on to learn 10 facts about scleroderma.

1. Scleroderma is more common than you think

It’s estimated that 300,000 Americans live with scleroderma. Of these 300,000 patients, approximately 1/3 live with the systemic form of the disease. However, it’s possible that the number of scleroderma patients is actually much higher, since diagnosing this skin condition can be difficult, as the disorder bears a lot of similarities to other autoimmune diseases, such as polymyositis.

2. Localized scleroderma is the first main type

The two main types of scleroderma are localized and systemic. With localized scleroderma, symptoms such as skin thickening and collagen overproduction are limited to a few places on the skin or muscles, and internal organs are usually not affected. In general, localized scleroderma is relatively mild and rarely develops into systemic scleroderma.

Morphea and linear scleroderma are two sub-classifications of this form of the disease, which appear as patches or streaks on the skin, respectively.

3. Systemic scleroderma is the second main type

In contrast to localized scleroderma, systemic scleroderma affects the connective tissue in many parts of the body, including the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart, and other internal organs. It can even impact blood vessels, muscles, and joints. These tissues become hard and fibrous, which decreases their function.

There are two sub-classifications of systemic scleroderma – diffuse and limited. Diffuse scleroderma results in a rapid skin thickening across a larger portion of the skin. Patients with this form of the disease have more internal organ involvement as well. Conversely, limited scleroderma occurs when the skin thickening is less widespread, and is usually confined to the fingers, hands and face. It tends to develop slowly over time.

4. Limited scleroderma is also called CREST syndrome

Limited scleroderma is sometimes referred to as CREST syndrome, an acronym which stands for the different symptoms this condition causes:

Calcinosis – an accumulation of calcium deposits under the skin, which may cause pain
Raynaud’s – a phenomenon in which small arteries that supply blood to the skin constrict excessively in response to cold, limiting blood supply to one’s fingers and toes and changing their color
Esophageal dysfunction – a stiffening of the gastrointestinal tract muscles, resulting in reflux and indigestion
Sclerodactyly – the hardening of the skin on one’s fingers and/or toes
Telangiectasias – round, red spots on the skin’s surface as a result of widened small blood vessels

5. Scleroderma can affect one’s lungs

Pulmonary symptoms can occur in patients with systemic scleroderma. For example, patients may develop pulmonary hypertension, a condition in which the lung’s blood vessels narrow, which results in impaired blood flow in the lungs. This, in turn, causes shortness of breath.

6. Your gender, age, ethnicity and genetics may play a role

Scleroderma affects women up to three to four times more frequently than their male counterparts. According to the Mayo Clinic, the condition most commonly occurs between the ages of 30 and 50, although children can also develop the disease. One’s ethnic background may also influence the risk of developing the disease, the age of onset, and the severity of one’s symptoms. Although it’s believed that genetics play a role in the development of scleroderma, genetic factors are thought to only predispose a person to the disease, rather than cause it.

7. Other autoimmune issues may co-occur

Since scleroderma is an autoimmune disease, it may occur in conjunction with other autoimmune issues. According to the Mayo Clinic, between 15-20% of scleroderma patients have another autoimmune disease, such as rheumatoid arthritis, lupus or Sjogren’s syndrome. This is why it’s important for patients to get evaluated for other potential co-morbidities as well.

8. There is no cure, but treatments do exist

While there is no known cure for scleroderma, treatment options do exist to help patients manage their symptoms and to prevent further complications of the disease. For example, your doctor may prescribe steroids to help you cope with skin symptoms. Blood pressure medications may also be used to treat Raynaud’s phenomenon. Anti-acids and antibiotics can help reduce digestive issues and prevent infections. Immunosuppressants may be prescribed to reduce overactivity of your immune system and to decrease damaging inflammation. And finally, pain medications may also be used to decrease pain if over-the-counter pain medications aren’t effective enough.

9. Surgery may be necessary

In extreme cases, surgery may be required for certain scleroderma patients. For example, patients with severe Raynaud’s phenomenon in their fingers or toes may have tissues that die off or develop painful sores; consequently, amputation of these tissues may be required. Also, in patients with heavy lung involvement, a lung transplant may be necessary to help the patient breathe.

10. Scleroderma support groups are here to help

The Scleroderma Foundation offers numerous local chapters and support groups, designed to help patients connect with others living with the disease. These support groups provide a forum to share feelings, concerns, information with others, and act as a place to offer peer support and encouragement. To find your local support group in the US, visit the scleroderma chapter locator.

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