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A Parent's Worst Nightmare

This is a lengthy but worth reading blog.

When we were pregnant with Noah, we wanted to have genetic testing done. Aside from the usual tests that determine certain diseases, we wanted to make sure he was not going to have vision issues. And if genetic testing showed that he would have sight issues, we wanted to be as prepared as we could.

My husband and I were tested and thankfully my husband does not have the same mutated vision gene that I do. In order for Noah to have the same visual condition that I do, we would both need to pass on that mutated gene. Phew, we thought, we dodged that bullet.

As a result of my genetic testing, another mutated gene popped up. This one was related to a condition called Alport Syndrome. We had never heard of it and began to do some research to see if Noah would experience this syndrome as well. According to the genetic counselor that we met with, Noah had a 50% chance of having this condition. We were alarmed at this, literally a 50/50 chance that our unborn child could be affected with something major.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the ear during late childhood or early adolescence.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

Full disclosure, I have always had microscopic blood in my urine but never thought anything of it. My doctor’s used to tell me that if I was seen by any medical professional, just to let them know I have blood in my urine in case they determine it from a urine test and became concerned.

The only way to determine if Noah was going to have this syndrome was by doing amniocentesis. My husband and I drove to a Rochester Medical Center, met with the geneticist who explained our results in much more detail, and discussed the procedure of amniocentesis. We discussed the pros and the cons and of course the risks as there are risks with everything.

Amniocentesis is a procedure in which amniotic fluid is removed from the uterus for testing or treatment. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy. This fluid contains fetal cells and various proteins.

I laid on a table, similar to one that you would lay on at a doctor visit. The doctor explained his every move while the assistant used a sonogram machine to see where the fetal sack was. The doctor inserted a large needle, extracted a sample of fluid and it was over very quickly.

It was a long few weeks as we waited for the results. My husband and I just wanted to know if our son would have Alport Syndrome or not. It would never change the way we felt about him but we wanted to be as educated as we possibly could.

One day, I was sitting at my desk at work and my cell phone rang. The caller ID read aloud to me and it was the genetic counselor that we had met with from Rochester, NY. I am not sure how this happens, but I felt so many different feelings at that very moment.

When I picked up the phone, my voice was a little shaky. She told me the results right away, Noah has Alport Syndrome.

I am tearing up even writing this, but as I struggled to finish the conversation with her, I hung up and lost it. I balled my eyes out. I called my husband, who at the time, worked 15 minutes away. He left work right away and we went home.

I was literally sick to my stomach thinking that this little boy, who is growing in my belly, is going to have a rough life before he is even born. I was angry with God for letting this even happen. I’m not a super religious person but I definitely believe in God etc. I was beside myself knowing the struggle that our little boy was going to endure. I felt guilty for bringing a baby into this world and knowing he got this condition from me.

I don’t think I have really told many people about this, but as my husband and I drove home, we were on one of the main roads leading into our neighborhood. My husband and I were quiet at this point but all of a sudden my husband stopped dead in the middle of the road. I was confused or thought he was getting pulled over or something. He sat there for a few seconds and explained to me that he looked up in the sky, there was a cloud directly in front of us and above that looked like a baby on its hands and knees. After a few seconds of him looking at it, he said it disappeared and he began driving again.

I don’t know what he saw that day or if it was a sign from above, but I think of that when I am having a tough moment thinking about this damn disease. I think it was God’s way of saying, it is going to be OK, you will all be ok.

That night, was a tough one as we chatted with our immediate family. My parents came over and talked to us a little bit too. They gave us some insight into when they found out that I had a vision problem and that my life wasn’t going to be easy or normal. They gave us some tips and offered some helpful ideas.

The next day, my husband and I told ourselves that Noah is a very lucky little boy, even though he hasn’t even made his grand entrance yet. We told each other that he is going to be loved more than anything, no matter what. We felt that we had a strong marriage and were both fighters and that we’d do anything for our baby boy. Our soon to be family of three could make it through anything and get through tough times as a team. We also told ourselves that even in ten years, when this condition might manifest, technology and medicine will be that much more advanced.

My husband and I then decided to reach out to a pediatric nephrologist to educate ourselves and learn more about this syndrome. We wanted to establish a doctor for Noah to see once he was born.

The tough part was, when he was born, there was no way to tell if he was affected or not. It is usually something that gradually happens when babies enter toddlerhood or adolescence.

We are supposed to have his first visit with the nephrologist next month to conduct a hearing exam and get a urine sample. This most likely will not show anything yet, but they stated that he should be seen once a year to have a baseline and monitor any changes.

You never know, maybe he has a mild strain and everything will be just fine. No matter what, we will do everything in our power to make sure Noah has a fun, loving, fulfilling, and amazing life.

Life definitely has its ups and downs and throws curveballs at us. Staying strong, positive and educated are the keys to overcoming all of the craziness this world tosses in our laps.

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