What a Fortunate Soul I Am - by Mellene Webb
1968 was a year of great change and turmoil for those living in the United States. Young American men were fighting in the swamps of the Vietnamese jungles. Two public and controversial souls were assassinated, Robert F. Kennedy and Martin Luther King, Jr. Our proud nation witnessed NASA’s Apollo 8 orbiting the moon and Boeing’s 747 took to the skies. On a personal note, this was also the year that the film “Oliver!” was released. The crush that I had on the actor who portrayed the “Artful Dodger”, Jack Wild, was one of the main subjects of my preteen thoughts.
This year started a journey of breakthrough and transformation for me. I was in the 5th grade and the world seemed enormous. My mother had noticed my friends and piers were experiencing growth spurts and were starting to blossom and transform from little girls to teens. I was exceptionally short compared to other girls my age, and mom wondered why. “I recommend that you take her to Colorado University of Medicine if you are concerned,” Dr. Platt counseled her.
So, with that said my family and I started this sojourn. I can still hear and smell the vast facility of the Colorado University of Medicine. There were many phlebotomy technicians and nurses that worked with me. Dr. Silver was the pediatric endocrinologist and my first physician there. I remember he was an older gentleman with a compassionate demeanor.
The awareness and understanding of Turner syndrome (TS) was in its infancy. It is astounding how much more knowledge we have about this chromosomal disorder today. I recall that during each visit my wrist would be x-rayed. There was always the good news; the ends of my bones (growth plates) had not yet begun to close. This closing is an expected occurrence that happens as a person reaches puberty and is about to reach their optimum height.
At this time, I was prescribed androgens to coax and encourage some additional inches to my growth. Androgens are hormones found in both male and female sexes; however, males do produce more of this growth hormone by nature. I recall feeling embarrassed as I was warned that my voice may deepen. My voice is far from masculine. I love to sing and have become very contented to sing Alto.
Fifty-four years have passed since that time and my memory is rather clouded but I do remember the weekend that I spent as an inpatient at CU. I can still hear Frank Sinatra crooning “My Way” on the T.V. The initial procedure of getting the IV seemed extremely traumatic as they forced the access into my tiny vein. The students and staff started a glucose drip and drew blood from my arm every half hour. I quickly left my childish fear of needles behind. I have a vivid memory of my father looking at my arm and demanding that they “Get someone that knows what they’re doing to draw her blood!”
With all these tests being performed, the physicians decided to run an imaging study called a KUB. (kidneys, uterus, and bladder.) The results of this imaging study held the first clue to my short stature. This study revealed horseshoe or conjoined kidneys. Horseshoe kidneys are a very common part of the Turner syndrome spectrum. After the discovery of this renal abnormality the decision was made to get a karyotype. It was determined that I had a mosaic X chromosome. Turner Syndrome can take a whole X chromosome, or the chromosome may look broken and pieced back together in a mosaic fashion.
At the age of 13, the mystery was solved; I had a genetic faux pas. Enter Dr. Gotlin. I only remember bits and pieces about this physician, but I know that he was a doctor that specialized in pediatric endocrinology as had Dr. Silver. My mom and dad had recently split, and I remember that Dr. Gotlin was very supportive of my mother.
Somewhere in the haze of losing my beloved grandmother, my parents’ divorce and transitioning from grade school to middle school, I remember hearing about “streaks of ovarian tissue and no functioning ovaries.” I would ask my poor mom about the possibility of my ever having children. She would just reply “That is up to God. Only God knows.” What she told me was the only truth that she could bare to speak. Luke 23: 29 for the time will come when you will say, ‘Blessed are the barren women, the wombs that never bore and the breasts that never nursed!’ I must admit that I felt far from blessed when I came to the realization that I would never bare children. I was eighteen years old.
Possibly, this feeling of emptiness has been the most painful part of having been born with Turner syndrome. The medical decision was made to start the estrogen therapy. My height reached 4’11” and we were glad for every bit of it as it had been predicted that I would be fortunate to reach 4’8”. The good news is that because of the TS I have never had to deal with physical distress that comes with menopause. I simply stopped taking my hormone replacement therapy.
During one of my doctor visits, I told my mom “I want to be a nurse.” I must confess that some of this desire for nursing came out of pure desire for revenge. I wanted to be the poker instead of the poked. Yes, you guessed it! Today I am a RN with my BSN and have made a career of caring for people.
Medically, this chromosomal disorder has impacted my hearing. I do not hear well without my hearing aids. I was diagnosed with type two diabetes at about 10 years ago. This is controlled with oral medications and diet. Osteoporosis has just been discovered through a routine bone density scan. I struggle with high cholesterol and hypothyroidism. I can contribute all of the above to family genetics and TS.
As I think back to those days of uncertainty, I realize what a fortunate soul I am. I have the ability to think, see the beauty in the world around me, hear my favorite songs (all be it with the help of hearing aids), taste wonderful food, and smell the pine trees and flowers. Mostly, I am grateful for having such a kind mother and patient sister who traveled this road with me. I will always be of short stature and have horseshoe kidneys. Like my curly hair and blue eyes, it is just an element of how I was created. I am 1 in 2,000 women that have been diagnosed with Turner Syndrome.