Alport‘s is relatively new to myself and my family. My story began when I was 6 months old. My parents had me routinely tested and it was discovered that I had blood in my urine. I went through 3+ years of seeing urologists, nephrologists, etc., at CHOC, but they said that all of the tests came back inconclusive. Since my mother, grandmother and great aunt had blood in their urine as well, they figured it was just hereditary and nothing to be concerned about. Fast forward 28 years.
I became pregnant in 2011. I started having significant swelling early on in my pregnancy at about 20 weeks. I also kept testing positive for having protein in my urine, so my doctor would monitor my blood pressure thinking I could be having pre-eclampsia, but my blood pressure always remained normal. It wasn‘t until I was 33 weeks (the day after I was in my sister‘s wedding) that I started having complications including early contractions. My OBGYN wanted to test me further due to the new complications. My results showed that I had 19 grams of protein in my urine (supposed to be 1.5 or lower). I was immediately sent to a nephrologist that wanted to deliver me at 36 weeks. The high risk doctor wanted to monitor me closely, but my body would not cooperate and started shutting down. I received a call from my doctor and was told I had to deliver the day I turned 37 weeks via cesarean section because my body could not handle a natural birth. I was terrified.
At the same time I was going through my pregnancy, my sister had just gotten married and was trying to apply for life insurance, but was denied because she had blood and protein in her urine as well. So, she went to see a nephrologist as well. We were told that we needed to get a biopsy to determine what it was that we had. My sister volunteered to get the biopsy because I had just had a cesarean section and a new baby. The results came back as Alports.
Our whole world changed at that moment. No one really knew what it was other than that it was an X chromosome disease that affects males, but also some females to include my sister and I. We immediately took to the internet, which was a big mistake. Everything I read was telling me that my newborn son may never live a full life and could be faced with blindness, deafness and failed kidneys. I read all of these statistics and died inside. It didn‘t help that my nephrologist was telling me not to test my son because there is nothing I could do and that it would only depress me. That by not testing him, I would allow him to live a better and fuller life. I was also told that I will probably need a transplant in 5-7 years. Soon, I started living in a dark, angry and depressed cloud. I started asking why me? Why my innocent son? What kind of life will we have? Will my son grow up without a mother? The questions just went on and on.
It wasn‘t until I realized that someone in a mommy group that I was in also had the same disease. She told me that I needed to speak with another Alports patient named Joy and I did. She helped me see that my doctor was uninformed and there are a lot of options out there. I attended an Alports meeting with my family, I went to Joy‘s nephrologist who made me see things in a more positive light and I began to see that there is so much more to learn and discover and that it is not the end of the world for me or my family.
It has been 2 years now and we still don‘t know exactly which one we have, but it is ruled out that we have the X-linked Alports. For our doctors, it is a mystery. In the end, you treat the systems the same way. My son will be tested soon to see if he has either the blood or protein in his urine. We know that we are advised to not have any more children because it would decrease my kidney function further and would be extremely risky for myself and the baby. That is still a tough pill to swallow because I feel like the choice was taken away from me. We are so thankful we were able to have our son because he is the best thing that ever happened to us.
I still get emotional from time to time because it is still so new, but it is not the end of the world and whatever comes our way, we will handle together. My husband has been my rock through all of the ups and downs and so has my entire family. This has brought us closer and for that I am thankful.