What would you do differently? Part 2: A better birthday

I can admit, 100% selfishly, that I love it when people learn the sex of their baby prenatally. Why? Because, as a genetic counselor, many times I get to be the one to tell them! It’s almost exclusively a beautiful and happy experience and if they start to cry, I start to cry. It’s just wonderful. But from time to time, I have people tell me they want to be “surprised” and are going to wait until birth. The type A part of my personality is always confused by this, thinking it so illogical to choose to withhold information. Besides, the news is always a surprise no matter when you find out! But I completely respect their wishes to wait. It’s romantic and exciting and takes a ton of will power. More power to you!

There are so many things that new parents are surprised about the day their baby is born. Maybe it’s a surprise C-section, Dad fainting in the delivery room, a head full of curly hair, or a wimpy first cry. But one surprise that people typically are not expecting that day is a surprise genetic diagnosis.

No matter when you learn about a diagnosis, you’re not prepared for it. It’s always scary, and sad, and overwhelming. It’s never wanted. It’s never easy. But thanks to medical technologies, for so many diagnoses we given the option to learn ahead of time if this will happen. You can choose if you want to know now, or if you want to learn when the baby or child is showing you signs of concerns. I think a lot of us, myself included, have the tendency to avoid thinking about negative things for as long as possible. But if there is a diagnosis to be given, there will come a day that the diagnosis is received, whether we are ready for it or not. And while we may want to avoid facing the news, having a heads up is rarely a disadvantage.

When I lived in Ohio I would get called up to the neonatal intensive care unit(NICU) to meet with families after a baby was born with an unexpected genetic condition. There are so many horror stories of new parents being told this news in the most inappropriate and insensitive ways, and I put so much pressure on myself to do a good job, knowing the potential impact of every word I say. I follow my carefully crafted mix of small talk and getting to the point, always beginning by congratulating them on the new baby and using the baby’s name as much as possible. After all, today is still a birthday. We talk about how the baby is doing, what our concerns are, and how we are going to get more information. From there, the family dictates how long I stay. Sometimes it’s a very long visit,and we talk about the the child with Down syndrome that grew up down the street from dad. Other times I can tell they want to be alone and I leave me contact information and encourage them to call me if there is anything I can do. Even though it’s a gut wrenching experience, I would sign up to do it everyday if it meant there were no more stories of people being given this news inappropriately. I know that I am not perfect, but I care about the family, my words, and the weight of what I am telling them. The family knows it’s uncomfortable, but they know I am trying my best.

I’ll never forget when I was called on to meet with new mom, Juliette (*name changed). Her baby girl had a heart defect, was in the NICU, and had a few signs of Down sydnrome on physical exam. As I held up my fist to knock on Juliette’s recovery room door, I froze to the sounds of her sobbing on the other side. I could tell she was on the phone and wanted to give her privacy to have her call. I paced the floor for 30 minutes, pressing my ear to the door every few minutes to see if the call was over. When we finally met, the woman before me was simply a wreck. Just physically and emotionally exhausted. Baby girl Scarlet was Juliette and her husband’s sixth child. They home schooled their children, ages 14 through 4, and at the age of 42, Juliette was not planning on having another baby. She was delighted when she found out she was pregnant, but her age had been concerning to her throughout the pregnancy. She declined prenatal testing as she had in her other pregnancies and focused on the reassuring news from her ultrasounds.

Juliette was lost and could barley get through a sentence without needing to catch her breath. She kept emphasizing that she was not upset that Scarlet had Down syndrome and she really had no idea why she was crying. After a long talk, I told her that I think I had figured out why she was crying. She was crying because she had a baby that day and that alone is a reason to be emotional. Because her baby was in the NICU and not in the bassinet next to her bed like she was supposed to be. Because her daughter was going to need open heart surgery. Because her husband was at home telling the other children they would not be meeting their sister today. She was crying because she was overwhelmed and scared. Because the future she had expected for her family is now out of focus. She didn’t have a plan, she didn’t know what to do, and she was alone in her recovery room.

I have given diagnoses many times, both prenatally and post. And while the prenatal diagnoses are certainly not easy, the days I give post-natal diagnoses are the days I feel the most passionate about prenatal testing. I have seen parents not want to name or hold their baby after getting the news- struggling to reconcile the difference between the child they were expecting and the one they received. I’ve had mothers cry as they confess that instead of having an feeling of overwhelming love when they saw their baby for the first time, they had an instant knot in their stomach and a sense of shame, confusion, and fear. It’s disappointing when you receive what you might consider bad news on a random, neutral day. But it’s even more devastating when that news falls on a day that has been the object of so much anticipation and excitement, destined to be one of the greatest days of your life. It’s heart-breaking to see a joyous birthday overshadowed by unexpected news and a fresh new baby receiving awkward looks instead of snuggles.

Sometimes people tell me they do not need prenatal genetic testing because they will love their baby regardless. And I have never doubted a parents ability to fearlessly love their child, regardless of a genetic condition. But it’s because of the love I know you have that I want your meeting you be as delightful, special, and peaceful as possible. Prenatal testing gives people the opportunity to prepare, not just logistically, but emotionally. A big part of this preparation is grieving the loss of the child you were expecting and going through the emotional journey that will hopefully lead to acceptance of your new family. When this journey can begin before a baby is born, then the day the baby is born is just a birthday and nothing more. And while the birthday still may be a bit scary and bittersweet, you can be genuinely excited to welcome not just any baby, but that baby, into your family.

This is a short story that I always share with families receiving an unexpected genetic diagnosis after delivery.

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