Sometimes, You've Got to Prove Them Wrong!

February 20, 2018

 

I was born February 20, 1984, and was diagnosed with Turner syndrome (TS) when I was six months old. The pediatrician, who turned out to not have a medical degree but was self-taught, noticed some physical features (hammer toes and widely spaced nipples), and referred my parents to have me tested. After I was officially diagnosed, he told my parents to put me in an institution and forget about me.

 

Fortunately, they never went back to him and didn't follow his advice. And they never let me use having TS as an excuse!

 

There were certainly plenty of medical appointments as I was growing up, often with extra observers as TS is not common, especially when I took growth hormone from approximately age 8 to 14. I remember trying to plan my weekly night off from the shots with any sleepovers I had, and choosing hotels based on if there was a fridge in the room or not, but it was worth it. I'm 5'4" and I think my 18-year-old sister is a bit upset that we are the same height.

 

I was put on the birth control pill for hormone replacement therapy when I stopped taking growth hormone. Oh, how my Roman Catholic mother loved that! Not much, of course. While in college, I started to not feel well physically, and stopped taking the pill, putting myself through menopause. I wouldn't recommend it. I was eventually prescribed an estrogen patch and progesterone pill, which seems to work much better for me.

 

Along with the common (for TS) growth issues and infertility, I have the also common bicuspid aortic valve. Additionally, I have another heart defect called partial anomalous pulmonary venous return. Fortunately, in my case, this has only meant that I need to take antibiotics before a dental appointment. 

 

But just because you wouldn't look at me now and suspect TS, doesn't mean that it doesn't impact me. As an adult, the hardest thing has been explaining my diagnosis to guys I've dated. While TS doesn't define me, it is part of me and anyone who knows me long enough eventually finds out about it.

 

My parents explained TS to me shortly before I started taking growth hormone. It spurred my interest in genetics, and eventually led to getting my Masters in Medical Genetics in 2010. Since then, I've been working at a genetic testing company in Wisconsin where I manage the descriptions of the tests offered. Oh, how I'd love to send my original pediatrician a copy of my degree! 

 

DON'T make assumptions, DO dream big!

 

Additional Resources

 

Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome

 

Turner Topic Patient Guide to Turner Syndrome

 

Turner Topic Patient Guide to Estrogen Replacement Therapy in Turner Syndrome

 

Turner Syndrome and the Heart