When parents are expecting a baby, they normally envision spending their days cuddling and playing with a happy, healthy newborn, and cheering them on as they hit milestones. However, my parents were in for a much different experience with me.
I have a rare genetic condition called Turner Syndrome (TS) – a missing X chromosome that can have an extremely wide range of impacts, from delayed growth to autoimmune conditions. It can come in many forms and is diagnosed with a blood test called a karyotype. Since February was TS awareness month, I wanted to share my story.
Someone who has TS is either completely missing, or missing part of, one of their X chromosomes. This is a sex chromosome that primarily controls growth and physical development. Most people with TS are born female or intersex, but people born male can also be affected. TS is associated with short stature, delayed puberty and infertility, heart defects, autoimmune disorders, kidney defects, and many other things. It presents differently in each person, and no two people will have the exact same experience.
My story with TS starts during my mom’s pregnancy. At the 20 week anatomy scan, the sonographer noted that my femurs were shorter than normal. This initially seemed like a trivial concern to my parents, but the OB/GYN warned them that this finding, combined with a 1 in 64000 risk of Down Syndrome flagged by first trimester genetic testing, could be an indicator of Down Syndrome and offered further testing. My parents declined the amniocentesis due to the risks, and everything continued to progress normally.
At 35 weeks, my mom was admitted to labor and delivery for complications of what we now know was an allergic reaction. There, an ultrasound revealed that I had almost no amniotic fluid and appeared growth restricted. Another ultrasound showed that I had a fluid build up in my left kidney called hydronephrosis. My mom was then induced, and when I was born, the medical team pointed out some things about me that were indicative of Turner Syndrome. The next morning, the pediatrician rounding at Barnes Hospital that day explained TS to my parents and recommended doing a karyotype. The next 2 days consisted of testing for my heart and multiple meetings with geneticists. As they were talking with doctors, my parents learned that only around 1% of TS-affected pregnancies end in live birth.
The karyotype results came in when I was 5 days old, confirming the diagnosis. If you ask my parents, they’ll tell you the first three months of my life were a blur of tests and specialist appointments at St. Louis Children’s Hospital and trying to keep my health stable. Early on, we found that my right kidney formed with many cysts on it and was therefore not functional – a condition called a multicystic dysplastic kidney – in addition to the hydronephrosis. I also struggled with multiple food intolerances, which earned me a failure to thrive diagnosis during this time. A little later, I was diagnosed with a third kidney condition called Renal Tubular Acidosis. I was also diagnosed with an underactive thyroid when I was a baby, and have taken medication to treat that ever since.
When I was about 1, I developed a muscle imbalance in my neck called torticollis, which required months of weekly physical therapy and investigation by a neurosurgeon to rule out neurological causes. At 18 months old, I began taking growth hormone injections nightly and continued until I was about 15. Being so little at first, the frequent injections were very stressful for me and my parents. After about a year and a half of trying to push through, we took a few months off in hopes that I would tolerate it better after a break. I did, and was on growth hormone consistently from then until my growth plates closed. In preschool, I had regular appointments for speech and occupational therapy to work on feeding issues. This was also when I had my first ENT surgery to fix my tongue tie, remove my adenoids, and put tubes in my ears.
Things were pretty stable for my early elementary years, but there was still lots of monitoring to make sure it stayed that way. I saw my endocrinologist every few months for bloodwork to check my thyroid levels and screen for certain autoimmune conditions that are common with TS, and I also had to get regular X-rays of my growth plates while on growth hormone to see how close they were. I also had regular nephrology appointments with bloodwork and ultrasounds to check on my kidney. In addition, I required regular screening for conditions associated with TS to ensure that I wasn’t developing new issues, like echocardiograms and scoliosis screenings.
After years of frequent strep infections and 2 sleep studies showing issues, my tonsils were removed in third grade. Just a few months later, I broke my wrist, and the subsequent X-rays revealed that I had a problem with the bones in my wrist called Madelung’s. My radius on either side was growing too long, which would crowd my wrist and hand bones over time. At 10 years old, I had bilateral (both sides) wrist surgery to hopefully stop this from progressing. Both of my wrists were either in a cast or splint for months, and I needed occupational therapy to regain their strength.
I have also required lots of orthodontic care. I first got braces in April of 2019 and have had them ever since. The past nearly 6 years has also included a few oral procedures and a 6 hour double jaw surgery last April to correct my bite. Other than that, the past few years have simply been about monitoring and maintenance.
TS is a big part of my story, and it certainly has shaped me, but it’s not all there is. I’m a teenage girl who loves shopping and Grey’s Anatomy. I’m an involved student with a 5.0 GPA, and am in multiple leadership and volunteer positions. Since I was old enough to answer the question “what do you want to be when you grow up?”, I’ve wanted to become a pediatric physician and pass on the amazing care I’ve received, and continue to receive, at St. Louis Children’s and Cardinal Glennon Children’s Hospital.
