Amy and Chris are the parents of Avary, a wonderful, now four-year-old little girl who has Turner Syndrome. They have long been advocates for Turner Syndrome awareness, having navigated the stages of coping with diagnosis, finding care, and parenting a child with Turner Syndrome. We asked them to share their experience finding out about Avary’s diagnosis, what the early days of her life were like, and what they have learned in the process.
A new diagnosis of Turner Syndrome comes with many feelings, all of which are valid. As a parent of a child who has Turner Syndrome, you should not expect yourself to have all of the answers. We are here to inform you, support you, and guide you in understanding your child’s diagnosis. Further, you are not alone! There are other parents who understand what you are going through and want to support you. Join the Star Sisters online support group to connect with others!
From a Mother’s Perspective: Amy
“I went from being clueless to being informed, and I wish someone had said to me four years ago: ‘Breathe, take a second, and look at this for support!'”
Here is the not-so-short story about how we felt when we found out: First, let me start by saying we tried, and tried, AND TRIED to start a family (that is a story for another day). I was at risk because of my age, so we opted for MaterniT21 testing. Regardless of what the results were, we just wanted to be prepared. No matter what the outcome, our baby was going to be loved. Well, the testing “flagged” the baby for Turner Syndrome, and we agreed to more testing after she arrived.
Almost a month early, during an at-risk check appointment, my doctor sent me in for an emergency C-section. Five hours later, Avary was born an underweight preemie with jaundice and was sent to the NICU. We opted for the genetic testing right away, and the results came back a few days later, confirming Turner Syndrome. I think I honestly put it in the back of my mind for a bit, because being a NICU parent (who was trying to nurse) was hard enough. Not many people we knew had ever had babies in the NICU. We didn’t know a single person who knew anyone with Turner Syndrome.
A Wave of Emotions
As if the NICU and nursing weren’t hard enough, the cardiologist evaluated Avary and told us she had to have coarctation heart surgery immediately. They transferred us to NYU Langone (where the nurses were INCREDIBLE), and we had to wait as our nine-day-old baby had heart surgery. At this point, I was a NICU parent, trying to nurse, living in the city with just an overnight bag, with a ton of doctors in and out and a mound of paperwork.
Hmmmm…what else could I do? I know. I could cry. Every. Single. Day. I cried to my parents, I cried to my amazing cousin who let us crash at her place, and I cried to Avary that maybe I couldn’t be the parent she needed. Most of all, I cried to my husband. He was our rock and anchor, who stayed on that tiny couch in her NICU room every night. He didn’t have to nurse, and he didn’t have all these crazy hormones, so he was amazing. My husband was calm, cool, and collected, while I was a stressed-out ball of nerves. Something had to be adjusted, so I gave up the nursing (partially because it was less stressful, but mostly because the nurses needed to document her feedings and ounces). It certainly helped with the rest, stress, and hormones.
So, how did I feel when we found out about Avary’s diagnosis? I think I was too preoccupied at first with the NICU situation that I hadn’t really given it much thought, until we got home and had to see a slew of specialists. Then, I still cried. Every. Day. A newborn who had to be woken up in the middle of the night for heart medicine, on top of feedings? Making several doctor appointments a week? I was so confused, stressed, frustrated, and full of questions. Why did Avary need all these appointments? How long would this go on? Where would I find all these doctors? Would they even take our insurance? Again, my husband was our rock. He did all the night feedings, while I did all the paperwork and medical appointments during the day.
“Even if I still don’t know all the answers, at least I know the RESOURCES that are available, which is just as important.”
Again, back to the question. I think any mother of a newborn is stressed and overwhelmed. But a diagnosis of something that we knew NOTHING about made it worse. We had so many questions, and we had no one to answer them and nowhere to look. The doctors started giving us some answers, but now, I rely on advice and support from social media groups and the Turner Syndrome Foundation. After finding out our own answers the first two years of Avary’s life (which was on a need-to-know-basis), I would say I am quite comfortable with knowing the “basics.” And even if I still don’t know all the answers, at least I know the RESOURCES that are available, which is just as important.
I went from being clueless to being informed, and I wish someone had said to me four years ago: “Breathe, take a second, and look at this for support!” Avary had so many services the first two years of her life, while I was working. I was so focused on her health and week-to-week appointments that I didn’t really look into this wealth of resources that I could have had earlier.
I also think that awareness has increased tremendously in the past few years, so now more parents have access to questions and answers. Take some advice: reach out, ask for support, Google information, sign up for newsletters, donate, ask questions. You may not yet know how you feel about Turner Syndrome, because you don’t know about it and what to expect (it took me two years!). But when you are ready and need support, please reach out, because we are all in this TOGETHER.
A Father’s Perspective: Chris
“When I looked at her, her lips were bright red, and she was an absolutely beautiful baby.”
This is the way I remember it. First, the doctors told us something was wrong when Amy was pregnant. This, for me, might have been the most terrifying part of the whole pregnancy. We didn’t even know if we were having a girl or a boy, and we tried for so long, and we just wanted the baby to be healthy. It wasn’t until after she arrived that we found out Avary had Turner Syndrome. We were told that a special doctor had to be in the room when Amy had the C-Section.
Navigating First Days of Life
Right after being born, Avary was handed to the specialist. I will never forget him looking at her for the first time. It was like he was saying to himself, “She is so beautiful, and she’ll be fine.” When I looked at her, her lips were bright red, and she was an absolutely beautiful baby. They sent her to the NICU immediately, which was not that bad for me because the nurses were so compassionate. There was something special about them that made me feel really safe.
The doctors told us something was wrong with her chromosomes, but no one really explained what Turner Syndrome was. The doctors were not making anything clear, but yet we followed all of their day-to-day advice and instructions. The next thing I knew, we were taking an ambulance ride to Manhattan. The whole rush of things and uncertainty made everything pretty scary, but before I knew it, Avary was out of surgery and in my arms.
Staying in the hospital was not fun; doctors and nurses were constantly in and out, and I didn’t sleep well. Avary had tests and medicines, and there was always paperwork. The day I was just about to lose it, they finally told us we could go home. We settled in, and after establishing all the appointments for our daughter, we also saw a geneticist who started to tell us a little information about Turner Syndrome. The geneticist told us a lot of negative things: she would be small, would need injections for growth, and would not be able to have children.
Overcoming Challenges, Gaining Confidence
A lot of what they told us then has not been true, so far. If they tell you anything negative, do not panic; talk to the other specialists, seek early intervention, and ask other parents who have been through it. That was the most comforting–finding other parents who shared our experience. The first two years were rough, always being concerned about doctor check-ups and weight gain. However, all the specialists worked together and communicated about her health.
Through all of this, I did not to worry too much (I left that to my wife), because the doctors and specialists were competent. Even though we didn’t have all the answers and information, I just listened to what they told us to do. As a result, everything seems to be going well. We still have check-ups and appointments, but we overcame a lot of hurdles and are very fortunate to have our daughter.
Parents coping with their daughter’s diagnosis of Turner Syndrome can access support from the Turner Syndrome Foundation. Here are some resources you might find interesting: