My Daughter Was the Key to My Diagnosis by Amanda Bosman

I was extremely sick when I was little. I was born in 1992, and no one could explain why I was so sick and I was diagnosed with failure to thrive. Fortunately, I recovered but no one was sure why.

Growing up, I was always much shorter than my two sisters and looked very young. I also had trouble in school as I was diagnosed with dyslexia, but I was able to graduate college and law school, pass two bar exams, and go on to become a practicing attorney.

Fast forward to 2024 and I got pregnant with my baby girl. The NIPT results came back when I was 16 or 17 weeks pregnant and indicated a finding of Turner syndrome - “lack of X chromosomal material.” I had heard of it before but as I did research, I was absolutely terrified. The thought of my baby’s heart not developing consumed me. All the doctors told me we just had to wait until the anatomy scan to see if her heart developed.

Later that night (after the NIPT results) my parents called me and said it had to be me. They researched Turner syndrome and said it was exactly what they went through when I was little. My sister-in-law knew a prenatal genetic counselor who agreed to see me. She got my bloodwork taken and after weeks of worrying for my baby, I was officially diagnosed with mosaic Turner syndrome. Fortunately, my daughter does not have it. We tested her after birth.

After being diagnosed, my thoughts then shifted to how my baby saved my life. Doctors started doing all the routine testing they could do while I was pregnant. Tests which should have been done my whole life.

If it wasn’t for prenatal testing, I would have never known. Learning more about TS and my general health as I age, I am extremely fortunate as I do not have any significant complications. I discovered I have a horseshoe kidney and a minor aortic issue; however, they just require routine monitoring.

I was also so blessed to be able to get pregnant as I know most women with TS generally cannot. I also thank my lucky stars that I opted for an “elective” c-section. I received judgements from many people but I knew in my heart labor wouldn’t be safe. My cardiologist later agreed that it would have been an extreme strain on my heart that he wouldn’t have recommended, which could have been unnecessarily dangerous.

Being diagnosed late in my life, I am happy to share my story and raise awareness so women with Turner syndrome can get properly diagnosed and treated throughout their life.