Hi! I am a carrier if Alport Syndrome. I have many family members that are carriers or have gone into failure. I have 3 uncles that have had transplants. Our family went for a big
research study on Alport, so I know a great deal about Alport and have had a great deal of experience with it. Also, I am a RN and have been very interested in it,and I have done lots of
research myself. I knew enough that I have checked my two boys for blood in their urine since they were 2 ( because this is the age that my uncles showed up with hematuria). My oldest son (age 5) has not had any signs of the disease, but I recently tested my 2 year old and he has hematuria. I am in the process of going through USC specialty clinics and University of Utah (who did the study on our family in 1993), to get the genetic testing done on my son to be absolutely sure that Alport is what we are dealing with. He is very healthy right now, but seems to tire easier than the norm. We have seen a pediatric nephrologist in Columbia, SC who is VERY wonderful. His name is Dr Robert Holleman. We are now having bloodwork and visits every 6 months for now, and he is going to be scheduled for frequent hearing tests. All of my uncles have
hearing aids. They are doing VERY well though. One uncle did hemo
dialysis and he got a transplant 20 years ago from a cadaver. He functions as a NORMAL person these days. The nephrologists are amazed that his kidney has lasted this many years. The other uncle did peritoneal
dialysis and he got a transplant about 10 years ago from his brother in law. He is doing well, although he has a terrible time with gout, and now we just found out that he is in chronic rejection. Our family's Alport Syndrome is carried on the X chromosome, so the daughters of the female carriers have a 50/50 chance of becoming a carrier, and the sons have a 50/50 chance of having Alport and going into failure. The affected males that have sons, the sons will not be affected at all and the daughters will all be carriers. The
research that was done through Utah, they found exactly where on the X chromosome the defect is, but technology has not advanced enough to be able to remove the X or any other process by which the child will not be affected. There are some families that have an even rarer case where it is carried on the Y chromosome, and in that case the females go into failure. I have heard, through the study that we are one of the largest families thatthey have ever seen with Alport. I am now joining another
research study with my son through University of Utah. They are trying to find a treatment or anything that would prevent the patients from going into renal failure. Feel free to contact me any time, I have done lots of
research. Just know that God would not give us anything that we cannot handle.
Posted on 02/01/08, 10:02 am
Hi, there. I was just told recently about the University of Utah studies. How did you get in contact with them? My family must be one of those rare families that carry on the Y chromosome. My grandmother died from kidney failure over 50 years ago because of Alport's. My brother has had hearing aids since he was five. He also had a transplant from a cadaver 14 years ago. He began hemodialysis over a year ago. As I was being tested to donate to him, I got the horrible news that I also have Alport's. It's devastating. I'm a single mom to an 18 month old beautiful little girl and I don't want to leave her early like my Nana did to my mom. I'm glad to have the information we do now! Good luck to your family & your little boys. 
