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.

FDA Approves Drug to Treat Rare Autoimmune Disease

The U.S. Federal Drug Administration (FDA) has approved a drug manufactured by ChemoCentryx to treat a rare group of autoimmune diseases, called anti-neutrophil cytoplasmic autoantibody-associated vasculitis, or ANCA-AAV for short. According to ANCA Vasculitis News, ANCA-AAV causes inflammation and damage to the body’s small blood vessels. This inflammation is the result of antibodies that bind to certain cells of the immune system, called neutrophils, and overly activate them.

Since small blood vessels are found throughout the body, ANCA-AAV causes a variety of symptoms, including:

  • Poor kidney function, leading to kidney failure
  • Severe respiratory problems, including shortness of breath, hoarse voice, cough with blood or mucus, and chest pain
  • Neurological symptoms, including tingling, burning, numbness, and weakness
  • Central nervous system (CNS) involvement, such as headaches, cognitive impairment, and memory deficits. In severe cases, seizures, paralysis or loss of consciousness may also result.
  • Ear, nose, and throat (ENT) symptoms, like sinusitis, nasal discharge, rhinitis, and tinnitus (ringing in the ears)
  • Eye symptoms, including eye pain, vision impairment, and vision loss
  • Joint pain, muscle pain, and muscle loss
  • Skin lesions, including rashes, sores, ulcers, bumps, and bleeding underneath the skin
  • Digestive problems, like vomiting, diarrhea, nausea, abdominal pain, and blood in one’s stool
  • And more…

Due to the numerous symptoms ANCA-AAV causes, it can often be fatal for patients; in fact, ChemoCentryx states that the first year mortality rate for patients living with the disease is between 11 and 18 percent. Current ANCA-AAV treatments on the market include steroids and immunosuppressant medications which compromise the body’s ability to fight off infections. That’s why having a new treatment on the market that works via a different mechanism may be a saving grace for many ANCA-AAV patients.

The new drug, called avacopan, will be sold by ChemoCentryx under the brand name Tavneos. It works by blocking a protein called C5a receptor that is responsible for causing numerous inflammatory diseases. The drug’s wholesale price will be an astronomical $150,000-$200,000 per patient per year. However, it could be the life-saving treatment that the 40,000 ANCA-AAV patients in the US need.

The drug is currently being tested for use on other conditions as well, including the autoimmune skin disease Hidradenitis Suppurativa (HS). The drug has already received approval for commercialization in Japan, and is expected to be approved in Europe by the end of 2021.

Martina, a 29-year-old mother-of-two from Stuttgart, Germany, describes what it was like being diagnosed with this challenging autoimmune condition:

“It began rather unspectacularly, with flu-like symptoms, fever, headaches, and joint pain. So anyone would think, ‘It’s just a normal flu.’ Then it got worse over the course of a week and I went to the hospital.”

She was eventually diagnosed with ANCA-AAV after undergoing a series of blood tests. Unfortunately, she had to give up her career as an educator in the process, since she didn’t have a strong enough immune system to be interacting with children while taking steroids and immunosuppressants to control the disease. Patients like Martina are the ones that could potentially stand to benefit from new drug therapies like avacopan.

Martina, 29, appears in an ad to raise awareness for vasculitis conditions.

To find resources for those living with ANCA-AAV and their caretakers, visit: https://www.myancavasculitis.com/living-with-aav/