What is it about?
My son and I are living with Alport syndrome, a rare genetic kidney disease that is often misdiagnosed and misunderstood. Being misdiagnosed for more than 40 years shaped my life in significant ways, and has affected my entire family. As the Executive Director of Alport Syndrome Foundation, I have met many families from across the globe whose story is similar to my own. Uniting and educating patients about the importance of genetic testing, accurate diagnosis, connecting them with experts, and learning from each other is helping our entire community. Shifting from powerless to empowered in living with Alport syndrome has made my life, and my family's, so much better.
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Photo by Kumiko SHIMIZU on Unsplash
Why is it important?
My personal story demonstrates that receiving accurate diagnosis of a rare, orphan, genetic kidney disease can be overwhelming, but can also be a powerfully important key to best understanding and managing treatment and quality of life. It is our right as patients to receive an accurate diagnosis of Alport syndrome so that we are aware of who else might be at risk in our families, be monitored for other potential complications of our disease, make sure that we are receiving the most updated treatment, can join a community of other patients that understand, and can participate in research and clinical studies.
Perspectives
Most Alport syndrome patients are initially misdiagnosed with the wrong kidney disease, leading to long and frustrating diagnostic journeys that delay standard of care and best treatment options. It is important that medical professionals use today's technology and tools to help patients and families gain an understanding of the root cause of their chronic kidney disease, including Alport syndrome. An accurate diagnosis of Alport syndrome can empower a patient in many ways that can help them better manage their physical and mental health. Getting connected to a patient support and advocacy group like Alport Syndrome Foundation can help them feel so much less alone, and provide opportunities to participate in research that can advance knowledge of and potential treatment options for our disease.
Executive Director Lisa Bonebrake
Alport Syndrome Foundation
Read the Original
This page is a summary of: An Alport Syndrome Journey: From Powerless to Empowered - A Patient Perspective, Glomerular Diseases, February 2023, Karger Publishers,
DOI: 10.1159/000529433.
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