Fight With Rare Blood Disease Turns Patient Into Advocate

Abnormal blood work from a 2014 annual checkup ultimately led to Linda, a career engineer in New Jersey, receiving a diagnosis of amyloid light-chain (AL) amyloidosis. This very rare disease causes the bone marrow plasma cells (a type of white blood cell) to create misshapen proteins that don’t break down properly and instead clump together, depositing in vital organs including the kidneys, liver, and heart.

Although Linda’s doctors believed her to be an excellent candidate for bone marrow transplant in 2015, an effective therapy for the disease, Linda chose to forego the procedure given the process and risks involved. Instead, she pursued treatment with the new CyBorD chemotherapy regimen (cyclophosphamide, bortezomib, and dexamethasone), which put her into remission for five years.

“When I was diagnosed in 2014, the first outpatient treatment, CyBorD, had recently become available. Up until then, the gold standard of treatment was an autologous bone marrow transplant, so having outpatient chemotherapy was a big step forward.”

In 2020, Linda’s kidney function started to consistently drop, prompting her to choose the latest AL amyloidosis treatment: daratumumab and hyaluronidase-fihj, a new immunotherapy. Again, she went into full remission, where she has stayed since 2021.

“These treatments saved my life,” Linda saved.

Unfortunately, her kidney function could not be saved, and she went on peritoneal dialysis from December 2022 to July 2025, when she received a kidney transplant.

Without NIH’s support of basic and applied research on AL amyloidosis and the mechanisms of action underlying potential therapies, CyBorD and daratumumab and hyaluronidase-fihj may never have been developed, leaving Linda with fewer options to effectively treat her disease. Both of these treatments were only made available for AL amyloidosis relatively recently: CyBorD in 2012 and daratumumab and hyaluronidase-fihj in 2020. Cuts to NIH funding could significantly interrupt research into this rare and life-threatening disease.

Now, post-kidney transplant, Linda continues to be a fierce advocate for AL amyloidosis. Since 2019, she has shared her story with the next generation of physicians to raise awareness about it through the Amyloidosis Speakers Bureau, a part of Mackenzie’s Mission.

“AL amyloidosis is still considered an incredibly rare disease, but the research to date has enabled better diagnostic and treatment techniques,” she said. “We need this research to continue.”