Raising the Volume on Alport Syndrome: A Patient Perspective.

Abstract

> Trust me, you have nothing to worry about. Eight redundant words repeated on four occasions. Each time, isolated hematuria would be found on routine examination. This would then be assessed through varying degrees of workup before ultimately resulting in the same arbitrary benign diagnosis wrapped in those same eight words. I think that one of the biggest barriers to the diagnosis of rare inherited diseases is the assumption that clinical diagnosis will not change the course of care. I understand that concern: why make a diagnosis if nothing will be done with the information other than instilling anxiety in the family? Having been a patient on the other side of this diagnosis, I would make the argument that this overly paternalistic mindset begins to threaten patient autonomy. Early diagnosis of Alport syndrome altered the course of disease for my family, allotting us an opportunity to delay progression to ESKD. The road to obtaining our diagnosis took our parents nearly 14 years; if not for our hospital’s participation in research taking place in Germany, who knows how long this may have taken? Nevertheless, after they had the diagnosis, the game changed. Equipped with this information, our parents knew what they were up against and would stop at nothing to find treatment. > I spent my days searching the internet and sending emails to every nephrologist across the US and Germany, explaining that I was a mother of four kids newly diagnosed with Alport syndrome. I was desperately searching for a treatment …