Rare Autoimmune Disease: Anthony’s Journey with Vasculitis

Among the estimated 100+ known autoimmune diseases, certain conditions stand out due to their extreme rarity. Rare autoimmune diseases often lack widespread awareness, funding, and research, making diagnosis and treatment a long and exhausting process for patients. On Rare Disease Day, we bring attention to those living with these conditions to emphasize the need for more research, improved treatments, and greater support.

One of these rare autoimmune diseases is vasculitis, a disorder in which the immune system mistakenly attacks blood vessels The blood vessels become inflamed, which can lead to vessel wall damage and reduced blood flow to various organs and tissues. Vasculitis is a rare autoimmune disease that affects fewer than 50 out of every 1 million people in the United States each year.

On Rare Disease Day, Anthony Russo shares his journey with vasculitis.

The Onset of Mysterious Symptoms
Anthony had always been active and maintained a busy lifestyle, including playing on a co-ed softball team in the summer and skiing in the winter. But when he was 38, things began to change. It started with subtle signs: fatigue and stiffness in his legs after a long day of work. At first, he shrugged it off, attributing it to getting older. But as the weeks passed, the symptoms worsened. His legs swelled, and he developed deep, dark bruises on his calves. His fingers felt numb and tingly, and he struggled to hold a pen for longer than a few minutes. Worst of all, the pain in his joints became so severe that even walking up the stairs was difficult.

A Frustrating Search for Answers
Anthony visited his primary care physician, who suspected rheumatoid arthritis. The doctor ordered blood tests to check for this and other autoimmune common conditions like lupus and Lyme disease. When the results came back negative, the doctor referred him to a rheumatologist. The first rheumatologist ran a series of imaging scans and more blood work, but everything came back normal. Frustrated, Anthony saw a second rheumatologist, who, like his primary care physician, suspected an autoimmune disorder but couldn’t pinpoint which one. They tested him for vasculitis, but the results were inconclusive. He was sent for even more tests—CT scans, MRIs, and even a skin biopsy—but all of them came back clear. In total, Anthony had been to seven doctors and undergone over a dozen different tests. The whole process dragged on for nearly six months, leaving him feeling exhausted not only physically but mentally as well. He even wondered if he was imagining it all.

The doctors were puzzled, too. Some wondered if it could be a rare form of lupus or a type of vasculitis, but none were willing to commit to a diagnosis without more evidence. Anthony had begun to feel like a medical mystery. He saw a dermatologist who considered it could be a reaction to a medication he had been taking, but his symptoms continued even after he stopped taking the medication. A neurologist thought the tingling in his fingers could be nerve damage, and he was tested for multiple sclerosis, but the results were negative.

Finally, a Diagnosis
Anthony was referred to a hematologist, a specialist who focused on blood disorders and conditions that affected the vascular system. The hematologist took the time to thoroughly examine his history and symptoms. After reviewing the tests and running a few more of his own, including a biopsy of his skin, the doctor confirmed that Anthony had vasculitis. It was a rare autoimmune disease, a condition that could often mimic other diseases, and it explained all his symptoms: the swelling, the bruising, the joint pain, and the tingling. The relief of finally knowing what was wrong was immediate, but the realization that his condition was chronic was still difficult to grasp. It had taken six months and the expertise of a specialist to get a diagnosis—months of uncertainty, dozens of visits, and countless tests.

Adjusting to Life with Vasculitis
The diagnosis meant that Anthony had to make significant changes to his lifestyle. He had to prioritize his health like never before. He began a regimen of medications to control the inflammation and prevent flare-ups. Skiing and playing softball became more challenging due to fatigue and joint pain. Anthony had to learn to listen to his body, pacing himself and incorporating more rest into his routine. He also adopted a healthier diet and started gentle exercises and stretching to maintain his strength and flexibility. Today, Anthony remains determined to live fully, finding new ways to stay active without overexerting himself.

Why We Need More Awareness for Rare Autoimmune Diseases
Anthony’s story is just one among thousands of people struggling with rare autoimmune diseases. Because these conditions affect smaller patient populations, they often receive less attention in medical research and funding. Patients frequently face delayed diagnoses, limited treatment options, and little support.

“Diagnosing vasculitis was a challenge because it’s such a rare condition,” said Anthony. “Autoimmune diseases are already difficult to diagnose, and when you add in a rare one like vasculitis, it becomes even more complicated.”

How You Can Help
Rare Disease Day is a global awareness campaign held every year on the last day of February to shine a light on rare diseases. With more than 300 million people worldwide living with one of over 6,000 rare diseases, we come together across borders to advocate for fair access to diagnosis, treatment, care, and social opportunities for all.

On Rare Disease Day, we encourage everyone to act:

• Educate yourself and others about rare autoimmune diseases.
• Support advocacy organizations – like the Autoimmune Association and the National Organization for Rare Disorders (NORD) – working to improve treatment and research funding.
• Listen to and uplift patient voices like Anthony’s, ensuring their struggles and triumphs are acknowledged.

The Autoimmune Association is committed to advocating for all autoimmune diseases, including the rarest ones, by driving research, providing support, and creating hope for the future. Through collaboration with experts, researchers, and clinicians worldwide, we strive to improve diagnosis, treatment, and care for all those affected.

Anthony’s Hope for Greater Understanding and Research
“It’s been a challenging journey,” Anthony said. “But I am hopeful for the future. More than anything, I hope that increased awareness will lead to more research and better treatments. When the medical community and the public take an interest, it drives progress that can change lives. No one should have to wait months or years for a diagnosis. With more support and understanding, we can make a real difference for everyone affected by rare autoimmune diseases.”