My Turner Syndrome Diagnosis at 29 During Pregnancy - by Holly Hambright

I’m sharing my story to give hope to those trying to expand their families or who are pregnant and need reassurance. My name is Holly and I’m 30 years old. I was diagnosed with Turner syndrome (TS) this past summer. Before we knew about the TS diagnosis, I had a healthy first pregnancy with the only issue being pregnancy induced hypertension (high blood pressure) at the tail end. I was great and so was our son.

Four months after having my son, I got pregnant again. I found out about Turner syndrome during this pregnancy. I went in for routine 10-week bloodwork and was informed by my OB that the test detected Monosomy X aka Turner syndrome. However, we did not know if it was our baby girl who had TS (this was also the unplanned super surprise gender reveal) or if it was me.

My OB informed me about the basics and recommended I get seen by cardiology just to be safe. Weeks later, we got my karyotyping results, and to all of our surprise, I was the one with TS; 29 years old and just now diagnosed. Initially, I was scared, thankful, relieved, and anxious. I was just glad my daughter was okay.

I cope by making light of situations, so my family and I had a “-1 chromie homie” party. We celebrated and embraced this diagnosis and that made it easier. I was referred to high risk just to make sure we all felt safe for me to deliver at a “normal” hospital. I did a checkup and ECHO with my cardiologist, and had to be seen by my OB essentially every week to make sure baby and I were okay.

We were very fortunate and all of my tests and doctors’ visits checked out amazingly. I did have high blood pressure throughout the pregnancy this time, but we were expecting it and that was the only worry. I had a healthy and safe delivery. Now that I’ve had my second baby, I am still doing well and do not have issues with high blood pressure anymore. I feel so fortunate to be able to 1) have carried two healthy pregnancies back-to-back, and 2) to have been able to be introduced to this Turner syndrome community that has so much support. I hope this story gives hope or calms some worries about finding out you have TS while pregnant.