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 the condition. We asked them to share the health concerns they encountered in Avary’s early years of life.
Please remember that every girl’s and woman’s experience is unique, so it is important to consult your health care team to determine the concerns at the forefront for your daughter. This story is just meant to highlight one perspective on managing care for a girl with Turner Syndrome.
The First Two Years
How many health concerns can a girl with Turner Syndrome have at once? Well, this really varies from girl to girl. She may have none; she may have 10. One concern might be mild; another might be more severe. Either way, early intervention and patience helped us navigate these concerns for Avary.
It was an overwhelming and chaotic time of appointments and specialists for us during the first two years of Avary’s life. I felt like she was a cartoon character with stars around her head. But we stuck with it, and it has all worked out. Endocrinology, gastroenterology, orthopedics, neurology, cardiology, nutrition, occupational therapy–we covered it all.
The first and biggest concern we had for Avary was when she had aortic coarctation surgery at nine days old. We had so many questions and concerns: What does this mean? How does this happen? Will this be a chronic condition? Well, we were able to relax, because it was a “one-time fix.” And giving her medicine around the clock for six months wasn’t too bad, because she was up for night feedings anyway (with my husband, actually; kudos to him!). Now, she just has a yearly check-up.
After the cardiac surgery, we moved on to a new concern of double hip dysplasia with the orthopedist. We still don’t know if this was hereditary or Turner Syndrome related, but it was a real nuisance (I’d rather go back to waking her up in the middle of the night for heart medicine). The hip harness was frustrating; it was hard to change a diaper, it had to be adjusted, and her new clothes didn’t fit. But in the long run, it helped. The orthopedist (who did not have the best bedside manner) wanted to see her constantly, and she qualified for occupational therapy (and cried every time the therapist came, even though we loved her). I cried, too, until the harness came off. Avary was behind on motor skills by at least six months, but after two years of occupational therapy, she ended up being ahead!
Next concern: gastroenterology, which ended up being a blessing in disguise. From the day she was born, our daughter was spitting up. Not a lot of projectile vomiting (which could have probably won us money on America’s Funniest Home Videos, and did happen occasionally), but always spitting up. So, to the gastroenterologist we went. The office, doctor, and information we received were great. The doctor diagnosed Avary with “failure to thrive.” We were confused; what did that mean? Well, it meant she wasn’t growing nearly as much as she should have been. Two things came out of that diagnosis.
A Wave of Turner Syndrome-related Health Concerns
First, we ended up qualifying for formula through the insurance (for a year!). That was a blessing, since neither my husband nor I were working at the time. Second came more specialists. Hmmm…what concerns did we have now? Oh, nutrition! Seriously? I don’t know how to give formula to my kid? I can’t track her height and weight? Are you criticizing me? More questions, concerns, and a blow to my self-esteem.
The gastroenterologist gave us a referral for which we didn’t have to use the insurance, since the nutritionist was covered through Early Intervention. She was amazing! She and the gastroenterologist didn’t see eye-to-eye on things, but we always followed her advice. Not only did she give us meal suggestions and review height and weight targets with us, but she was the one person who convinced us that our daughter was not ready for growth hormone shots yet. And now, turning four, she still does not think our daughter needs them at this time.
The Growth Hormone Debate
As parents of a girl with Turner Syndrome, growth hormone therapy has been our biggest health concern over the years. We saw two endocrinologists: one said to absolutely do it then, and the other said not yet. The gastroenterologist said to do it. And the neurologist (who has Turner Syndrome herself) said, in her personal experience, she never had shots (and if she didn’t tell us she had Turner Syndrome herself, we would have never guessed!) Side note: the neurologist dismissed us because all of Avary’s developmental milestones were on target.
So, shots, no shots, shots, no shots; it’s still our big debate. But we listened to the nutritionist, and we still talk to her. She is very reassuring, convincing, reasonable, and logical. Our daughter is currently over the 50% percentile on the Turner Syndrome growth chart, so we just aren’t ready yet. But every three months, we still go to the endocrinologist to touch base and weigh our options. Then, we go home and call the nutritionist (thank you, Leslie!), because she is still in this with us.
Last month, Amy and Chris shared what it was like when they learned about Avary’s diagnosis. If you missed it, click the button below to read it!
This story highlights the complexities of life growing up with Turner Syndrome. It is not a singular, linear path that all girls take; each girl’s needs will be unique. Amy and Chris have relied on their health care team to make decisions they are confident in for Avary. They also visit the Turner Syndrome Foundation’s website frequently to find information about health concerns. On our website, you can find Centers of Care for Turner Syndrome, resources such as books, and more.