Living with—and advocating for—a rare disease

The American Kidney Fund and the Alport Syndrome Foundation have partnered to amplify the voice of Americans living with Alport syndrome as they advocate for public policy that supports patients living with this rare disease.

I’ve become a patient advocate late in life. Though I’ve been a CKD patient since childhood, I was 51 years old before properly being diagnosed with a rare genetic kidney disease called Alport syndrome.

When my youngest son had hematuria as a baby, I was told he had IgA nephropathy like me. No need to put him through any testing, doctors said. Then at age 11, he lost his hearing. The night I was told he needed hearing aids, my parental instincts kicked in. All it took was typing the words “kidney disease” and “hearing loss” into the search bar online for me to realize my son’s true diagnosis of Alport syndrome. Getting someone to believe me and approve testing was a whole other challenge. Our genetic type, X-linked, is much more aggressive in males. Our disease causes renal failure, hearing loss and vision problems. We needed support quickly. My son’s proper diagnosis led to my own.  

Our family initially turned inward after diagnosis. We felt confused, angry and helpless. Joining a patient support organization changed everything for us. Alport Syndrome Foundation (ASF) provided information and support, and connected us to other families. Attending an ASF Family Meeting helped us understand that our voices are so important in bringing about awareness, driving research, and advocating for legislative tools that support our needs as both kidney and rare disease patients. We went from feeling helpless and alone to feeling quite purposeful in our mission to help ourselves and other families. After that first meeting, my then 12-year old son said to me, “If I keep hiding my disease, I won’t be able to help those researchers we just met.” He was right. 

Advocating for improved kidney health and rare disease legislation is so personally meaningful to us. With 1 in 10 Americans affected by rare disease, 7,000+ rare diseases, and more than 37 million Americans living with kidney disease, we are far from alone. Sharing our stories, experiences and reasons for supporting certain types of legislation is making a difference. For example, my older son hopes to be my younger son’s kidney donor. For our family, passing the Living Donor Protection Act is critical. My younger son feels strongly about the need to protect employment and insurance for his older brother when the time comes for him to potentially be a living donor. It’s powerful for legislators to hear directly from patients and families.

Being part of a community has helped our family tremendously. Getting involved in advocacy has brought us purpose and a sense of empowerment.

The Alport Syndrome Foundation and the American Kidney Fund are working together to encourage passage of legislation—at both the state and national levels—to provide job-protected leave for living organ donors and to protect them from insurance discrimination. Some states are passing legislation to help living donors financially. Visit AKF’s living donor action page to encourage your elected representatives to support these important initiatives.


About the Author(s)

Lisa Bonebrake

Lisa Bonebrake is Executive Director of the Alport Syndrome Foundation

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