As a third-grade teacher, Risa loves the smiles of her students as they learn new skills or reach a goal. This joy of achievement is an experience Risa appreciates even more because of her journey to diagnosis and effective treatment for a rare disease.
The summer of 2014 brought Risa a series of what seemed like unrelated symptoms. First, her arms developed red blotches. A year later, her feet, toes and lower legs tingled and felt heavy as if she were wearing boots. Then Risa, who has lived with asthma for decades, suddenly developed significant breathing and swallowing difficulties and ringing in her ears. Most of these symptoms subsided on their own, perplexing many of her doctors and specialists.
Putting the Puzzle Together
Two years later, Risa coughed up a bloody clot that led to an initial diagnosis of a lung infection. However, after visiting a leading respiratory hospital, she learned her history of seemingly unrelated health issues were the hallmarks of a rare disease: Eosinophilic Granulomatosis with Polyangiitis (EGPA), formerly known as Churg-Strauss syndrome.
She learned that the red blotches are called purpura and are formed from white blood cells in the skin. Even the symptoms of her heavy feet, toes, and lower legs, ringing in the ears, and the difficulty swallowing were all related to her EGPA. Risa learned that all these seemingly unrelated symptoms were all part of the puzzle her care team needed to solve to get to the proper diagnosis.
EGPA affects about 5,000 people in the US. The disease is characterized by asthma, inflammation of blood vessels (vasculitis), and an increase in eosinophils, white blood cells that are a normal part of the immune system. In EGPA, the eosinophils adversely affect different parts of the body. Inflamed blood vessels can reduce or stop blood flow, which may cause damage to tissue and organs. An eosinophil count that is >10% of a white blood cell count can help identify patients with EGPA.
To confirm diagnoses of EGPA, patients may be referred to healthcare providers who specialize in treating vasculitis or eosinophilic conditions, such as allergists, immunologists, pulmonologists, and rheumatologists.
The EGPA diagnosis brought relief to Risa and her husband Mike because they finally knew what was happening in Risa’s body. They also learned EGPA has no cure, but that with the right treatment and a multidisciplinary care team Risa could manage her disease.
Life with EPGA
In reflecting on her diagnosis and her new treatment regimen, Risa says she has a new perspective on life.
Now I have this positive outlook that I can lead a normal life. Being on the right treatment has been just a huge weight off of my shoulders.
She understands she feels better because the therapies have helped control her disease progression which has made her look forward to the future.
For Risa and Mike that means the freedom of planning for retirement and grandchildren. “We’re going to travel all over the country. I wouldn’t have been able to do that without getting the proper diagnosis and being on the proper treatment. So, my outlook is fantastic now.”