Turner Syndrome Awareness Month: My Story

“For you created my inmost being;
you knit me together in my mother’s womb.
I praise you because I am fearfully and wonderfully made;
your works are wonderful, I know that full well.
My frame was not hidden from you when I was made in the secret place,
when I was woven together in the depths of the earth.
Your eyes saw my unformed body;
all the days ordained for me were written in your book
before one of them came to be.”

Psalm 139:13-16

February is Turner Syndrome Awareness Month and throughout the month I will be highlighting different aspects of this unique genetic condition. I thought I would start out by sharing my personal story with it but before I do, here is a brief overview of what Turner Syndrome is.

Turner Syndrome is a genetic condition where the second sex chromosome is either partially or completely deleted or damaged somewhere in the fertilization process. Complete deletion or 45, X0 karyotype is known as Classical Turner Syndrome whereas partial deletion or damage is known Mosaicism, of which there are many karyotypes. Because the remaining chromosome is always an X, this condition only affects females and is seen in 1 in 2,000-2,500 live female births. The deletion or damage of the second sex chromosome can lead to several health challenges. The two that are standard in all girls with Turner Syndrome are primary or, in some mosaic cases, secondary ovarian failure due to underdeveloped ovaries, and short stature due to an underproduction of growth hormone. Other symptoms and signs can include lymphatic system problems in utero leading to webbing of the neck and puffy hands and feet in infancy, heart abnormalities including coarctation or narrowing of the aorta and a bicuspid aorta, kidney problems including a horseshoe kidney, autoimmune diseases such as IBD, Hashimoto’s, celiac and diabetes, hearing problems, and spatial awareness, learning and social difficulties known as non verbal learning disorder. Approximately 98% of Turner Syndrome pregnancies end in miscarriage or stillbirth. Because of this stat, experts now believe that even girls with Classical karyotype (45, X0) must have a cryptic or undetectable mosaicism cell line in order to survive.

Now onto my story.

My parents found out that I had Turner Syndrome at 16 weeks into the pregnancy due to the presence of a sac of fluid known as a fetal cystic hydroma at the back of my neck, a sign that my lymph system wasn’t working properly. An amniocentesis was performed and the diagnosis of Classical Turner Syndrome confirmed. Because of the cystic hydroma, the doctors only gave me a 1% chance of making it to term and counselled my parents to get an abortion. My parents believed that God never makes mistakes and made the decision to leave it up to Him, reaching out to their family, friends and church for prayer. Four months later at 36 weeks, I was born with the obvious characteristics of webbing of the neck, a puffy, droopy eyelid, and swelling of the hands and feet but thankfully no heart conditions or other health problems. As a baby and into childhood I was prone to a lot of ear infections which is very common in girls with TS due to the placement and shape of our ear canals but thankfully I never needed tubes of hearing aids or developed any other health problems.

Starting school was difficult because although my parents had told me I had this condition, they made sure I knew I could do just as well as anybody else if I worked hard and so I felt normal. The school playground was one of the first places I remember having my differences pointed out. Kids would ask about my droopy eye, webbed neck and smaller stature and my mom would have to explain. Usually after that kids were nice and we would go back to playing. Because I had trouble growing, I was often, if not always, the shortest one in my class. At the time I was growing up, growth hormone was not covered by most insurance plans or guaranteed to be effective and therefore was not a standard practice for Turner’s girls the way it is today. That is definitely one of the biggest regrets that I have about my Turner Syndrome journey. Even getting 2 or 3 more inches (I’m just under 4’8) would have been helpful. Although kids were mostly accepting of my differences in the early elementary years, the middle school years and into high school were where it got tricky again. Because I wasn’t starting puberty on my own, I was physically and emotionally behind my peers and friendships were hard. At age 12 I started hormone replacement therapy in order to supplement what my body couldn’t make on its own and kick-start puberty. Hormone replacement therapy is extremely important to the health of girls with TS in order to ensure proper growth of sexual organs and development of secondary sex characteristics as well as prevent early menopause, osteoporosis and endometrial hyperplasia. Unfortunately HRT wasn’t as effective for me as it could have been and I probably would have had better development with a different form or dose but I will expand my thoughts on this in different post. Although I excelled academically, math was an on and off struggle for me and my mom spent hours going over my addition, subtraction and multiplication tables with me in order to make sure I retained them. Later on, I excelled at algebra but struggled in geometry and trigonometry due to visuospatial issues from something called non-verbal learning disorder which is common in girls with TS. I will also talk more about it in a different post.

After graduating high school, I went away to Bible College and this was when I started experiencing my first signs of health problems due to Turner Syndrome- gut issues. Growing up, I was always deathly afraid of doctors and so I didn’t seek help for these issues for about 7 years, at first chalking it up to the stress of living away from home for the first time. Eventually it reached a critical point and after a visit to the ER in January of 2017 I was finally diagnosed with an autoimmune disease called Crohn’s. It’s hard to say whether my Crohn’s was caused by my HRT but studies have shown that there is a higher risk for IBD in girls with TS and with long term HRT use. Currently my Crohn’s is in remission, for which I am very thankful and I hope and pray that it stays this way. I am so grateful that I have not developed any other health complications as a result of Turner Syndrome and don’t take for granted how blessed I truly am. To other butterflies out there, know that you are more than a statistic and that you can have a beautiful life. God makes no mistakes and made you exactly the way you were meant to be. As your creator, He loves and accepts you just the way you are. He foresaw all the challenges you would encounter and has given you the tools you need to face them. It may be difficult at times, but if you work hard and believe in yourself, you can spread your wings and soar.

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