Our Alport story is still really just beginning.
My name is Mona. As a very young girl, at a routine check-up, my doctor found blood in my urine. This was confirmed at every check-up though the years. After a number of unremarkable cystoscopies and renal ultrasounds, they diagnosed this as benign hematuria. It was not until my oldest son, Zain, was also found to have microhematuria at his kindergarten physical in 2005, which spurred the long chain of tests and studies, which lead us to question my diagnosis of benign hematuria.
The doctors at the UW Children‘s Hospital in Madison were very thorough and kind. And it helped that my husband, as a PA, was able to speak the language of medicine. Zain‘s kidney biopsy (6 years later) strongly suggested Alport syndrome and definitively ruled out other kidney diseases. After Elias‘ (my second son) initial workup (blood tests and 24 hour urine) seemed to echo Zain‘s, we were able to convince our insurance to pay for genetic testing for Elias in 2012. (We paid out of pocket to have Zain‘s genetic test almost 1 year later.) This confirmed a form of x-linked Alport syndrome. Time to learn even more.
Since none in my family had ever been in renal failure, the doctors assume that I was a “new mutation“. My boys are presently taking Lisinopril and see the pediatric nephrologists every 6 months. Zain‘s condition is further along than Elias‘. Neither of the boys, thus far, has developed hearing or vision issues. I am glad that, so far, we have had no obstacles in our way to keep us from enjoying each and every day. We do lots of traveling and outside stuff, hopefully creating good memories for our boys to stand on in more restricted times.
Reading everyone‘s stories has been both difficult and empowering. I know that the road ahead of us will, most likely, be bumpy and uncertain. But at least we have all of your experiences to guide us. Thanks to the Alport syndrome Foundation for the wonderful conference we were able to attend in MN and all of their support through their web site and Facebook.