If you get diagnosed with a rare autoimmune disease—or any rare disease—you might have not ever heard of the disease before, let alone met another person who has it. You might get some blank looks if you try to tell someone about your condition. “It is hard for a patient to explain it to others in the general population,” says Rula Hajj-Ali, MD, associate director of the Center for Vasculitis Care and Research at Cleveland Clinic’s Department of Rheumatic and Immunologic Diseases. That’s because, by definition, a rare disease doesn’t affect large numbers of people. According to the National Institutes of Health, a rare disease is one that affects fewer than 200,000 people at any particular time in the United States. The good news: there is more knowledge now about many of these rare diseases, and research into rare diseases is ongoing, through initiatives like the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health (NIH).
10 Rare Autoimmune Diseases
There are thousands of rare diseases—more than 6,800, according to the National Human Genome Research Institute. Here are 10 in the category of rare autoimmune diseases:
1. Eosinophilic granulomatosis with polyangiitis (EGPA)
Formerly known as Churg Strauss syndrome, this autoimmune disease is characterized by elevated levels of white blood cells called eosinophils, which often leads to inflammation in blood vessels. That, in turn, can lead to damage in the lungs, kidney, heart and other systems in the body. Most people with this disease have asthma and allergy symptoms first. (A related blood disorder is hypereosinophilic syndrome.)
2. Guillain-Barre syndrome
Your body’s immune system attacks parts of your peripheral nerve system, causing symptoms that can range from mild weakness and tingling in the extremities to paralysis. It can develop at any age, often after a viral illness. Most people do recover from this disease, but some are left with residual weakness.
3. Kawasaki disease
Like EGPA, Kawasaki disease involves vasculitis, or the inflammation of blood vessels. It affects young children, typically showing up with a high fever, a rash, swollen lymph nodes and redness inn the lips, eyes and mouth.
4. Mixed connective tissue disease (MCTD)
This disease actually includes characteristics of three other connective tissue disorders: scleroderma, polymyositis and systemic lupus erythematosus. It can have a wide variety of symptoms when it first develops, including fatigue, joint pain, muscle pain and others. The temporary loss of blood supply to the extremities known as Raynaud’s syndrome is also common. It tends to be diagnosed most often in young women.
5. Myasthenia gravis
This autoimmune disease causes your body to produce antibodies that disrupt the communication between your muscles and your nerves, which leads to muscle weakness and fatigue. You may also experience trouble swallowing and making facial expressions, and it can also affect your eyes, making it hard for you to focus and blink your eyelids.
6. Paroxysmal nocturnal hemoglobinuria (PNH)
With this disease, the red blood cells are missing a particular protein, which causes them to fall apart prematurely—a process called hemolysis. When the red blood cells break apart, they release hemoglobin, which causes symptoms like severe fatigue, weakness, blood clots, bruising, recurring infections and trouble getting a cut or wound to stop bleeding. Some people also notice blood in their urine, or very dark urine, especially first thing in the morning.
7. POEMS syndrome
This is a progressive blood disorder that can damage your nerves and other parts of your body. It can often be confused with other disorders, too. The acronym stands for: Polyneuropathy (numbness and tingling); Organomegaly (enlarged lymph nodes, spleen, or liver); Endocrinopathy (abnormal hormone levels); Monoclonal plasma-proliferative disorder (abnormal plasma cells producing a protein in the bloodstream); and Skin changes.
8. Retroperitoneal fibrosis
People with this autoimmune disease have trouble urinating because extra fibrous tissue grows up to create masses that block the ureters, which are the tubes that carry urine from the kidneys to the bladder. As a result, toxic chemicals can build up in the blood, and kidney damage can develop.
9. Scleroderma
Scleroderma is a disease of the connective tissues. People with this disease experience an abnormal thickening of the skin, according to the National Organization for Rare Disorders. In addition to hard leathery patches of skin, joint pain, fatigue and Raynaud’s syndrome are common.
10. Thyroid eye disease
A person with thyroid eye disease will notice progressively worse inflammation in the tissues around their eyes. It usually starts with an active phase, which might also involve pain, grittiness in the eyes, bulging eyes, watery eyes, double vision and other symptoms. If left untreated, it can lead to some vision loss. It’s often a part of another thyroid disease known as Graves’ eye disease.
Find the support you need
Having a rare disease can turn your life upside down. Not only can be it challenging to explain to other people, it can affect every aspect of your life in ways that other people can’t quite grasp. That’s why it’s so crucial to reach out for support if you are diagnosed with one. Brenda Colmenares, communications manager for the EveryLife Foundation for Rare Diseases, turned to social media to connect with other people with myasthenia gravis who could share their experiences with symptoms and treatments. “I still to this day can’t believe I found my answers on Facebook,” says Colmenares. She has also connected with others through her work, finding inspiration and helpful ideas. “It’s key, to find other people with rare diseases,” says Colmenares. “It doesn’t even have to be your own rare disease.” “Once you realize that there are people that know exactly what you are going through and won’t judge you, it’s amazing,” she adds.
Seek out a specialist
It’s also crucial to find the right specialists with the expertise and knowledge to treat your rare disease, experts say. “When you have a rare autoimmune disease, you have to see someone who has been treating this for a long time and has experience with it,” says Hajj-Ali. “A specialist will be up to date on new treatments and new developments in the condition.” “You do need to seek out expertise,” says Michael Wechsler, MD, a pulmonologist at National Jewish Health in Denver and director of The Cohen Family Asthma Institute. “Find out who in your region or in the country knows what they’re doing with this disease. It’s worth it to travel to those places.” Plus, seeing a specialist can mean that you get the diagnosis and treatment that you need more quickly. That time may help you stave off long-term damage that can be caused by the disease, he adds. Specialists may also be able to connect you with a clinical trial that could offer you the chance to receive a promising new treatment, notes Hajj-Ali. Hajj-Ali typically advises patients to also keep a diary of their symptoms, listing their chronic, on-going symptoms but also documenting any changes or any new symptoms that may develop. They should always let their doctors know if they notice anything new. It could be a sign that their disease is progressing or that a different approach to treatment is necessary. “Patients know their bodies much much better than anybody else,” she says. Next up, understand the causes and treatments for vitiligo.
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