As a mom of a child with a rare diagnosis, this topic has come up more times than I can remember.
“Did you know ahead of time?”
“How much did you know before he was born?”
“How did you find out?”
These are only some of the questions that I get when others find out about my son’s rare diagnosis. I welcome these questions, and answer them as eloquently as possible, hoping that someone might connect with me, or learn something new and approach their day — or life — a little differently.
There are many opinions on prenatal genetic testing, so I am giving mine in an effort to offer an opinion of a mom who actually does have a son with a genetic condition.
First of all, it might help to know that I graduated with a degree in Music Therapy, and had some exposure to children living with diseases and disabilities in my clinic rotations. When I was pregnant, and asked about getting prenatal testing, my approach, based on these experiences, was knowledge is power. Knowing information about my child’s future ahead of time would set him up for the best care possible after birth. I chose to get the testing that was available and covered by insurance. It came back normal.
Around 20 weeks, I got an ultrasound that showed that my child had kidney cysts and thickening of his heart tissue. After meeting with specialists, they suggested more prenatal genetic blood work to try to find an underlying cause for the kidney and heart issues. I went ahead and got the testing, and once again, everything came back normal.
I knew that prenatal bloodwork could only test for so much, and getting an amniocentesis was another option. I decided not to get the amniocentesis because of the risk of miscarriage, and followed up with many more ultrasounds and prenatal echocardiograms.
With normal prenatal genetic testing, there was confusion as to why my child was exhibiting heart and kidney disease in utero. Although no one expected an abnormal birth, I ended up going into labor early and needing a cesarean. My son needed immediate life saving measures and surgery, and was given more genetic testing once he was in the NICU. These tests showed a deletion on the 21st chromosome. One that only 50 others in the whole world had ever been diagnosed with.
I had no idea what to expect for my son’s life. I thought he is a preemie and just needs to catch up, but would soon discover that we had a long road of diagnoses, hospital visits, therapy, and more ahead of us.
Going forward, I would absolutely get prenatal genetic testing if I were to have another child. The more prepared I am, the better parent I will be for that child. Knowledge is power, and I would recommend prenatal genetic testing to anyone. More and more babies and children are getting more accurate diagnoses, and genetic testing has come a long way even in the last couple of years.
If I could have known more about my son’s condition when he was born, I would have welcomed it with open arms. The “not knowing” was the hardest part to adjust to.
This is why I share my story. I hope it will serve as the knowledge someone else can use in the future who may be diagnosed with the same rare condition. Those parents will have more tools than I ever did, and they can, in turn, pay it forward with their story.
Again, this is only my opinion. There are many others in regards to this topic, so I only hope to offer a point of view that may be new to my readers. Deciding to have prenatal genetic testing is a very personal choice, and I respect everyone’s choice to get or not get the testing. If you are on the fence about it, I hope my story and opinion helps you weigh your options in making that decision.