My brother, Paul, and I were diagnosed with Familial Nephritis or Hematuria when we were around 4 years old. For me, this meant regular doctor‘s visits where they monitored my bodily fluids for protein and creatinine. For my brother, this meant kidney failure at 16 years old, dialysis for two years going 3 times a week for 3 hours, and two kidney transplants. Along with all of that came a tremendous amount of side effects ““ and, unfortunately, I don‘t think he missed one of them. He passed away at the age of 38 years old and the official cause was post-transplant proliferative lymphoma ““ after having his second transplanted kidney for 19 years!
At the same time my brother was battling lymphoma, two of my children (both boys) were diagnosed with Alport syndrome through skin biopsies. We were grateful we finally had an answer but devastated as well knowing that they had a 95% chance of developing kidney failure. We now knew that I was the carrier and had passed this kidney disease on to them through my X chromosome. My brother has two girls who are also carriers.
What do you do when you get news like this? You try to educate yourself, you look for support resources, and you try to connect with other people that are dealing with the same thing. If you are reading this you understand my disappointment that there was no support organization for Alport syndrome. There was a lot of work and support coming out of the University of Utah (Dr. Atkins) but that had stopped by the time I was looking for help. There was also a lot of information and support for general kidney diseases and issues on the Internet as well as a lot of information about Alport syndrome ““ it was just in too many places. I felt the need to centralize the information and resources for Alport syndrome so we could form a community that was dedicated to helping families cope with this disease. I was lucky enough to find some other people who felt the same way and who were willing to do this with me. I feel very hopeful that we can make a difference and affect some positive changes for Alport families.
On a personal note, my boys are doing well at this time. Joseph is 15 years old and Max is 14 years old and they have full kidney function. They are both on ACE and/or ARBs to control proteinuria. I also have a daughter, Michelle, and she is free from the disease. She was lucky enough to receive my “good“ X chromosome.
My brother‘s daughters, Izabella and Chloe, are doing great ““ they are wonderful girls and have a great Mom who is strong for all of them. I look forward to the day that our children will not have to worry about the effects of Alport syndrome on their children. I am committed to accomplishing this through this Foundation and hope many others will join me in this fight.
Thank you for reading my story,