Being Small Isn't All - by Alouisa "Ali" Thames

Being Small Isn’t All. We all start out small. We begin life in the same manner. Sperm meets egg, and cells divide and die rapidly. My story is 34 years in the making, but like all of us with Turner syndrome (TS), I’ll keep it short. My walk with TS began when one of my cells in early development failed to copy and retain what was once my second X chromosome, a process called nondisjunction. That cell eventually gave rise to 88% of the cells in my body. The remnant of my second X was partially retained as an isochromosome, choosing to live its life in the “ISOlated” remaining 12% of my cells.

This momentous event would remain unnoticed in me for almost nine years, though it left clues along the way. I was born into the most loving, caring, supportive, and incredible family anyone could ask for. However, with my arrival came some minor scares. Ultrasounds revealed a dark spot where my left kidney should have been, low platelets, recurring ear infections, and hearing loss. Thank goodness one can live with just one kidney, not to mention only one X chromosome!

Otherwise, I was a normal, healthy baby…with colic. Thank goodness I was the first baby in the family, or my poor parents’ sanity would have waned thinner than it did! Time passed, and I became “big sister” to a sister 17 months later, and a brother two years later. Giving my parents a run for their money, I entered the “terrible twos”. The jealous older sister vying for the attention so “unjustly” stolen from me by these younger “intruders” manifested itself in the form of pushing, biting, and, of course, frequent use of “MINE!” or an emphatic “NO!”.

As we grew, my younger siblings easily surpassed me in height, and my constant ear infections and unexplained hearing loss resulted in multiple myringotomies. Always on the low end of the growth curve, I struggled to keep up with the growth of my siblings. At one point, my siblings and I were so close in height we were mistaken for triplets!

Around the age of 8, my mom’s cousin, a pediatrician, began to piece together the clues left by that long forgotten nondisjunction event. Noting my one kidney, frequent ear infections, and short stature, especially compared to my siblings and parents, she recommended I be tested for Turner syndrome. So, reasoning unbeknownst to me at the time, my mom scheduled the blood test with the promise of a toy from Target afterwards for good behavior. So, we went and had the test performed, screaming and all, and then made the long-awaited trip to Target, where I promptly chose my favorite toy…a baby doll.

Years later, my mom would explain that she could not hold back her tears, knowing that I would likely never have children of my own, but at the time, I was oblivious. Of course, the test results revealed that secret event that had occurred almost nine years ago.

Using vocabulary accessible to an eight year old, my pediatrician opened the door to the world of genes, chromosomes, karyotypes, and genetics, and I couldn’t get enough! I was immediately fascinated and in awe. At the time, I was not aware of the statistics regarding women with TS and math skills, but I was quite literally afraid of numbers.

Today, I have a BA in biochemistry and have completed math courses up to calculus II! I now love math, and I attribute my learning success to KUMON (tutoring company). As a child, I HATED it and gave my parents all kinds of flack for making me do it, but I have absolutely no doubt it helped me overcome my fears, gain confidence, and ultimately get to where I am today.

Upon my diagnosis of TS, I began growth hormone treatment. It became part of our daily routine, and my parents even developed a pain scale so I could indicate how painlessly they administered the shots. Besides daily growth hormone injections and braces for what seemed like forever, I was a happy, healthy young girl.

Around age 14, I participated in a study for women with TS at the National Institute for Health (NIH) and learned more than I ever wanted to know about myself, including why I have so many nevi or why I was so terrified of math as a child! About that same time, we stopped the growth hormone injections, switching to hormone replacement therapy (HRT) instead (basically birth control pills) because I did not develop or begin menarche (menstrual cycle) on my own. I was on this regimen for years and have tried different forms of estrogen since then with varying degrees of success/side effects.

Going through puberty, knowing I was different from most other girls my age, was difficult. Dating was extremely difficult for me. I was afraid to let any young man close, to fall in love, or dare to dream of a “normal” life. Knowing I would never have my own biological children, and that I am different from most, I feared I would let my date down or somehow cause him to settle for less.

I struggled with body image and, in what I saw as my “out of control” life, I sought to gain control wherever I could…in food. Struggling with anorexia and ultimately overcoming it was a significant turning point in my life, and I learned to accept and embrace myself as I am. In college, a routine blood draw revealed elevated LFTs (liver enzymes), but the cause was unknown. Elevated LFTs came and went over the years, and I had every test under the sun to determine the cause. Unbeknownst to me at the time, elevated LFTs are common in women with TS and possibly linked to hormone replacement therapies. I switched to an estrogen patch and then to a gel to bypass hepatic metabolism, and my LFTs returned to normal levels. Whew!

Because of Turner syndrome, I followed up with a cardiologist and endocrinologist annually and had my thyroid checked regularly. A few years ago, I started to have higher blood pressure readings. At first, my doctors didn’t seem too concerned. However, it concerned me, so every time I would go to the doctor, my head would spin anxiously about the blood pressure reading! I started monitoring at home to get a reading without the “white coat syndrome” effect. Years went by until, recently, my blood pressure was concerning enough to warrant treatment with medication.

Around the same time, I also began to feel cold and noticed my hair was shedding more than usual. I contacted my doctor, knowing it was probably my thyroid, and blood tests confirmed the hypothyroidism I suspected.

At age 29, I met my future husband. When we first started dating, I told him about Turner syndrome and how that would impact our idea of what building a life and family together would be like. He later told me he did quite a bit of research on it, and though it took him a while to process, love conquers all! He is a wonderful, supportive, loving, and genuinely good man. After dating for almost five years, my fears and insecurities of the past dissolved, and we married last year. He loves me just the way I am, and says my theme song must be Alan Jackson’s “Little Bitty” because, after all, being small isn’t all.