Lupus – Autoimmune Warrior

Actress with Lupus Spreads Awareness for Autoimmune Disease

In 2007, Maria Alejandra Hernandez was living her best life in New York City, working her dream job as an actress. However, she started to feel unwell, and generally tired and run down. She had a kidney biopsy done, but it didn’t lead to any answers. She recovered from the mystery illness, and went on to live her life.

Four years later at age 21, her health problems resurged with a vengeance.

“It started with a pain in my finger, I remember,” Hernandez explains. “I thought I probably bumped it or I’m just stressed out. It’s probably going to go away.”

However, the pain didn’t go away, and in fact continued to spread to her shoulders.

“The pain was so excruciating, I couldn’t even lift my hands,” she says. She was hospitalized for a month, while doctors performed a myriad of tests in an effort to diagnose the cause of her sudden pains.

She was eventually diagnosed with systemic lupus erythematosus. The autoimmune disease was causing her body’s own immune system to attack her joints, resulting in the unbearable pain in her fingers and shoulders. Shortly after, she started getting rashes on her face. Butterfly rash, which is a skin rash in the shape of a butterfly that appears across the nose and cheeks of lupus patients, is a hallmark symptom of the disease.

Hernandez admits that she knew nothing about lupus prior to being diagnosed. She explains, “I thought I could tell the doctor, okay, give me the medicine so I can just get better. Well, it doesn’t work that way!”

She recounts with emotion finding out that lupus is a life-long, chronic condition: “I remember one of the doctors telling to me that there was no cure; I felt like my life ended right there.”

While 90% of lupus patients are women, the symptoms can be completely different from person to person. Hernandez says that in addition to joint pain, fatigue, and skin rashes, she also experienced weight gain, hair loss, and kidney problems. At that point, she thought that her career as an actress would have to come to an end.

Lupus put a strain not just on Hernandez’ career, but on her relationship as well. At one point, the young woman told her husband that she likely wouldn’t be able to have children, and that he should find a new relationship to fulfill his dream of having kids.

“He said, ‘No way in hell!'” Hernandez laughs. Her husband stood by her side throughout her aggressive medical treatment. She now manages her symptoms with a combination of daily prescription medications and a healthy diet. Staying positive is also an important part of maintaining her mental health.

Hernandez said that her blood tests have shown promising results that her lupus is under control. As a result, she revealed that her and her husband are looking forward to starting a family of their own.

“For Warriors like myself, [becoming a parent] might take a little longer, but I’m not losing hope,” she declared. “If I hadn’t gone what I went through, I wouldn’t be here now, raising awareness [for lupus],” she said.

“Now, lupus doesn’t control me. But I’m using it to help [others].”

Maria can be found on Instagram at: @mariaalejandrahl. To learn more about Maria’s battle with lupus, visit the Today show YouTube channel.

Is There a Genetic Cause of Lupus?

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Gabriella Piqueras, a 16-year-old Spanish girl living with lupus. — Gabriella Piqueras is a 16-year-old girl living with lupus in Madrid, Spain. Her DNA may be the key to finding a genetic cause for this debilitating autoimmune disease. Image courtesy of El Pais.

Researchers have long pondered whether there is a genetic cause of systemic lupus erythematosus, known as lupus for short. Lupus is a systemic autoimmune disease that occurs when the body’s immune system attacks its own vital organs and tissues, resulting in widespread inflammation and debilitating symptoms. Now, researchers have discovered a genetic mutation in a young patient, whose DNA may be the key to finding a cure for the disease that affects at least 5 million people worldwide.

One Girl’s Case My Help Solve the Mystery

Gabriella Piqueras, a 16-year-old teen from Madrid, is the center of a new research study published in Nature magazine. Ever since Piqueras was five years old, she has suffered from debilitating symptoms, like constant bruising and bleeding beneath her skin. She was admitted to a hospital in Madrid for treatment, where she was diagnosed with lupus as the cause behind her painful symptoms.

Piqueras’ DNA was recently studied by Carola Garcia de Vinuesa, a leading immunologist at the Francis Crick Institute in London. In the study, it was discovered that she had a genetic mutation on her DNA that activates the TLR7 receptor in her cell’s membranes. This receptor activation normally causes immune cells to recognize and attack threatening viruses, but in Piqueras’ case, it causes her immune cells to attack her organs and tissues instead.

Discovering a Genetic Cause for Lupus

After discovering the genetic mutation in the patient’s cells, researchers modified the DNA of mice in a lab at Australian National University in Canberra. As a result, the mice went on to develop lupus. Lead researcher Garcia de Vinuesa commented on the study, saying: “It was already known that this receptor appeared to be activated in lupus patients, but no one knew if it was a cause, a consequence or a side effect of inflammation. Now we can show that it is the cause.”

The discovery of the TLR7 receptor as a genetic cause of lupus is significant. Not only does it show that genetics can lead to development of the disease, it could also explain why 90% of lupus patients are women. Garcia de Vinuesa explains that the instructions for making TLR7 are located on the X chromosome on our DNA. Since women have two X chromosomes on their DNA, and men only have one, women are significantly more likely to develop the disease.

Environmental Factors May Also Play a Role

Maria Galindo, a Madrid-based rheumatologist, states that although the study’s findings are important, it’s also important to consider the environmental causes of lupus as well. She explains that there is “a base of genetic susceptibility that, in the presence of external stimuli, triggers an exaggerated autoimmune reaction.” She concludes, “Everything indicates that the TLR7 pathway is very important, but it is not the only one.”

While more research is required to understand both the environmental and genetic factors behind lupus, this Spanish study sheds light on the chronic autoimmune disease that is often referred to as a ‘cruel mystery’. With more scientific research into lupus, more treatments can be developed to help the 5+ million people living with the disease worldwide. And for patients like Gabriella Piqueras, that could make all the difference.

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

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*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.