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Amyloidosis: Rare Disease, Rare Courage

For Valerie, it began with shortness of breath and trouble sleeping. Eric found he could no longer stand in the shower. And Janet discovered she could barely hold a pen to sign her name.

The source of their struggles? Amyloidosis. The rare disease is caused by the buildup of an abnormal protein. It can affect the heart, kidneys and liver, in addition to other organs. Amyloidosis is highlighted alongside other rare conditions on February 28 as part of Rare Disease Day®. 

As with some other rare diseases, amyloidosis can take years to diagnose. Some physicians may not recognize the condition because of the range of different symptoms among patients. It took Janet years to get an accurate diagnosis, and Eric’s wrist pain was originally treated as carpal tunnel before he got a correct diagnosis.

The symptoms, which vary based on amyloidosis type, can be debilitating. Eric experienced cardiac arrest. Meanwhile, Valerie’s and Steve’s feet were affected, causing mobility issues. Valerie experienced extreme swelling in her feet and had to go up several shoe sizes. Steve lost feeling in his.

While patients are still waiting for a cure, several treatment options are slowing amyloidosis’ symptoms and protecting patients’ quality of life. After treatment, Steve, who lives with a hereditary, progressive form of the disease called hereditary transthyretin (hATTR) amyloidosis, is back to happily walking around. Janet said of her handwriting, It looks like my own again.” And Valerie, who was told she had only six months to live, is enjoying her life five years later.

Amyloidosis patients are living longer, fuller lives now that three innovative FDA-approved therapies are available, specifically for hATTR amyloidosis. Additionally, ongoing research has the potential to further improve upon current treatment options. 

As awareness grows, so too do networks for patients and their family members. Eric credits the support he’s received from fellow amyloidosis patients for keeping him going. “My advice: get involved with whatever support group you have access to,” he encouraged, “and try to help as many people with our disease as possible.”

While every patient’s journey is different, camaraderie keeps them connected so they can make the most of every day – including Rare Disease Day®, when their voices and stories raise awareness about the impact rare diseases have on patients’ lives.

Thank you to the Amyloidosis Support Groups Inc. and the Northern California Amyloidosis Support Group for your partnership in this effort.