The Mystery and Misery of Autoimmune Diseases

Heidi Hughes from Tampa, Florida, was 34 when she noticed that her fingers were unusually stiff. At first, she thought it was just from sleeping in a strange position, or perhaps carpal tunnel syndrome from hours spent typing on her computer. But the stiffness continued, and her fingers began to ache and swell. Eventually, she struggled even to open a jar of peanut butter, with pain shooting through her wrists.

Albert Stowell was in his 60s when he started to experience slurred speech, double vision, choking episodes and muscle weakness. A farmer in the Austin, Texas area, he was having trouble managing his livestock and machinery.

Chelsea H. of Lakeland, Florida, was in high school when she started feeling bloated and uncomfortable after eating common foods like pizza and pasta.

As she began her career in marketing, the bloating became painful and more frequent. She was constantly exhausted, barely scraping together the energy she needed for work.

Each of these people would visit doctor after doctor, take test after test, before finally getting a diagnosis. Heidi learnt she has rheumatoid arthritis, when the immune system attacks the lining of the joints. Albert has myasthenia gravis, which occurs when the immune system’s antibodies interfere with communication between nerves and muscles, leading to muscle weakness that worsens with activity. And Chelsea is dealing with coeliac disease, in which eating gluten—a protein found in wheat, barley and rye—prompts an immune attack on the lining of the small intestine, leading to bloating, diarrhoea, abdominal pain and fatigue.

All are autoimmune diseases. They occur when the immune system, which is supposed to defend the body from illness, mistakenly attacks it instead. While the exact cause is unknown, there are different theories about why the immune system suddenly malfunctions, including genetics, hormones, physical stress, injury or other illnesses.

Illustration by Kate Traynor

According to the Cleveland Clinic, there are over 100 types of autoimmune diseases. Although they target different organs and tissues, all result in chronic inflammation from a misdirected immune response. And while the early symptoms of autoimmune diseases can be subtle, if they’re left unchecked, the chronic inflammation can eventually cause irreparable damage.

This bodily ‘glitch’ is surprisingly common. A December 2024 study published in the Journal of Clinical Investigation found that about 15 million people in the U.S. have an autoimmune disease, and a third of those have more than one. Some experts believe the true number is closer to 50 million, since many people remain undiagnosed or misdiagnosed for years. About 80 per cent of those with autoimmune diseases are women (63 per cent to 95 per cent, depending on the disease). Researchers say this likely stems from a combination of hormonal and genetic factors: Oestrogen boosts the immune response, and the X chromosome carries more immune-related genes than the Y chromosome.

Concerningly, the rates of auto­immune diseases are on the rise. Experts suspect that this surge is linked to a combination of environmental exposures such as pollution and chemicals, gut microbiome changes, viral infections, and lifestyle factors such as stress, diet and sleep.

Some other common autoimmune diseases include Hashimoto’s thyroiditis, Sjögren’s syndrome, psoriasis, lupus, type 1 diabetes, multiple sclerosis, vitiligo, Crohn’s disease, ulcerative colitis, Graves’ disease and alopecia areata.

Treatment varies depending on which organs or tissues are affected. Autoimmune conditions can not yet be definitely cured, and so far only limited preventive strategies exist for high-risk individuals. Therapy generally focuses on controlling symptoms and limiting damage, often with a combination of medications and lifestyle changes such as diet, stress management, physical therapy and exercise.

A variety of drugs work by suppressing the entire immune system, leaving those taking them vulnerable to infections and other illnesses. But newer biologic therapies—treatments made from living cells—are able to target specific parts of the immune system, giving patients fewer side effects and better control over their symptoms. In some cases, patients may receive infusions of antibodies from donated plasma, or, in severe cases, have a bone marrow transplant. Scientists are also studying CAR-T cell therapy—where the immune system’s T cells are reprogrammed to eliminate its B cells, which cause many autoimmune diseases—as a new treatment.

Heidi, Chelsea and Albert each found a way to manage their conditions. Heidi finally found relief with a biologic drug called adalimumab (brand name Humira and others), physical therapy and an anti-inflammatory diet. Chelsea follows a strictly gluten-free diet and takes a daily multivitamin to make sure her body gets the nutrients it needs. While she admits that there are lots of foods she misses, she also says she’ll take how she feels now any day over how she felt when she was eating gluten.

As for Albert, it took a year and a half and visits to seven different neurologists before he finally got his diagnosis of myasthenia gravis. Even then, the first treatments he tried weren’t very helpful. But then in 2020 he entered a clinical trial for zilucoplan (brand name Zilbrysq), a drug that targets a specific part of the immune system that affects myasthenia gravis symptoms. That, he says, was like spotting a light at the end of a dark tunnel. Today, his symptoms are under control, he says, and he can once again enjoy time with his family and handle his daily tasks.

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