Today we bring you the next installment of the Turner Syndrome Foundation’s (TSF’s) Day in the Life series. In our three previous posts in the series, we have had the pleasure of hearing from Grace, Chloe, and Helen (a child, adolescent, and adult) about their daily experiences and their important reminders for the Turner Syndrome (TS) community. Today, we’re going to gain insight into the day in the life of a senior woman with TS. Let’s meet Barbara and learn how she has overcome obstacles and learned from her experiences to keep making lemonade.
I was born in April, 1955 in Miami Beach, Florida. I was diagnosed with TS at around six years old, and I am now 67. Life as a senior woman with TS is different for everyone, because life doesn’t always go the way you plan.
As an infant, I had swollen hands and feet and this weird extra skin on the back of my head. Doctors suspected TS right away, but I was not officially diagnosed until I was about six. Though I was diagnosed, I did not hear the words “Turner syndrome” until I was 15. Making sure that we can achieve earlier diagnosis and raise awareness of TS is so crucial!
My TS Journey
TS is not the best deal, but it has not kept me from living a very full, independent life. My philosophy has always been, “if life hands you lemons, make lemonade.”
I have a Master’s degree in computer science from Villanova University, and I recently retired from a 40-year career as a business application software developer. My various jobs sent me to Philadelphia, Overland Park (a suburb of Kansas City), Atlanta, and Raleigh.
My childhood dream of being an entertainer came true when I was an undergrad in central Florida. On the weekends and during summers, I worked at Disney World as Mickey and Minnie Mouse. In my 30s and 40s, I was active in community theater, especially children’s theater. I played such roles as an elf, a dwarf, a mole, an alien, a matchmaker, and a wicked witch. It was a lot of fun!
Facing & Overcoming My Challenges
As a result of having TS, I have dealt with infertility, hearing loss, and osteoporosis. I also have many of the physical characteristics of TS, such as horseshoe kidney, a high-arched palate, a low hairline, and lots of moles. Most problematic is my short stature; I am 4’4″ tall, which is short, even by TS standards.
In addition to some of the medical and physical issues that accompany TS, there are some related psychosocial issues and non-verbal learning disorder (NVLD), which makes tasks like driving more challenging.
Due to my height, I have had to make adaptations to my car, my kitchen, and my bathroom. I also wear hearing aids to help with my hearing loss. Adapting to our needs is what makes us butterflies so resilient!
My Medical Treatment as a Senior with TS
Regarding treatments, I took hormone replacement until I was in my late 50s. For my bone density, I took Fosamax for several years, and I also get a Reclast infusion once a year (as needed). However, my recent experience is that my medical concerns as I’ve gotten older are usually not TS related.
The Importance of Support Groups in My Life
I enjoy contributing to TSF. During TS Awareness Month this past February, for instance, I helped write and perform in a recorded live performance of The Butterfly Effect. This play provides meaningful messages for butterflies of all ages and is an important reminder of how resilient and special they are! The full performance is available on YouTube, and you can read more about the project on TSF’s blog.
I have also been an active and integral part of the Turner Syndrome Society of the U.S. (TSSUS) for the past three decades at both the national and local levels. I am also involved in a local TS support group in North Carolina.
It wasn’t until I was 29 that I met another person with TS. The reason I am so passionate about these support groups is because there wasn’t one for me and my parents when I was growing up. I didn’t have the chance to meet other girls “like me.” My mother didn’t have the chance to talk to other parents and discuss her concerns. She had no idea what questions to ask the doctors. She had no idea what to tell me and when.
The time, effort, and energy all seem worthwhile when I see the TS community laughing and bonding with each other. It all seems worthwhile when I have the chance to encourage parents who hve just found out their daughter has TS. Or when I think of all of the wonderful people I have the opportunity to know.
TS & the Senior Woman
TS results from an entirely or partially missing X chromosome and affects 1 in 2,000 live female births. Among the physical effects of TS are short stature; delayed puberty; infertility; and heart defects, such as a bicuspid aortic valve and aortic coarctation. Individuals with TS are also at higher risk for osteopenia, osteoporosis, hearing loss, vision issues, and kidney problems, especially with age. Let’s look at a couple of these issues.
Osteopenia and osteoporosis both involve a decrease in bone mass and the resulting risk of bone fractures. However, these are two different levels of bone density loss, according to measures of bone mineral density. A source from Harvard Medical School provides a helpful example for understanding where osteopenia and osteoporosis are in terms of bone density: When thinking about bone density measures as a curve, normal bone density would be at the peak of the curve, and osteoporosis would be at the bottom.
Osteopenia, which impacts about 50% of Americans over age 50, would be in between on the downward slope. Tests known as dual-energy X-ray absorptiometry (DEXA) are used to measure bone density using T-scores to determine whether a loss in bone mass is classified as osteopenia or osteoporosis. A T-score of -1 to -2.5 is considered osteopenia, and any score lower than -2.5 would indicate osteoporosis.
The lower the T-score, the more porous and less dense the bone is, and the more likely someone is to fracture a bone. Bone density tends to steadily increase during youth and adolescence and stagnate during a person’s 20s. However, studies have found that 25% of women with TS experience a decrease in bone mass after this period. This means a higher rate of fractures in individuals with TS.
Researchers estimate that those with TS are 10 times more likely to develop osteoporosis and twice as likely to suffer a bone fracture. To find a solution, medical professionals began researching the impact of growth hormone therapy (GHT) and estrogen replacement therapy (ERT) on bone health in 2002 and found that there was a slight improvement in bone mass. Further research is being conducted into the bone mass of patients with TS.
Hearing loss is another symptom seen in patients with TS. Though it is also present in younger girls, hearing loss generally progresses with age. Up to 61% of patients with TS over the age of 35 experience hearing loss and require hearing aids. The cause of this is yet to be determined, though researchers speculate that it may be due to premature aging.
The most severe hearing loss has been present in those who lack a short arm of an X chromosome, such as women with 45,X monosomy or isochromosome X, as opposed to those with mosaic TS or partial deletions. Early and routine hearing tests are therefore recommended for those with TS, as the signs of hearing loss might not be present until after it has already taken effect.
As a result of these and other physical effects, those with TS must visit cardiologists, endocrinologists, ophthalmologists, orthopedists, audiologists, and other specialists throughout their lives. Usually beginning during adolescence, ERT may continue into adulthood for those with TS. Making early diagnoses and providing the proper treatment are essential to the health of all individuals with TS throughout their lives.
Barbara’s story and experiences are an important testament to how, despite the challenges we may face along the way, we can adapt and give ourselves the power to live out our dreams. It is also a reminder that TS butterflies can live long and fulfilling lives. Though she has had to overcome many obstacles, she has persevered and obtained a quality education, pursued a career that she enjoyed, and gone on to make a tremendous impact on the TS community. For more resources for TS, be sure to get involved in some of TSF’s programs, such as the private, online Star Sisters group and the Awareness Committee, which aims to raise awareness of TS through several initiatives.
TSF extends a huge thank you to Barbara for sharing her story and being a part of our mission and community. Remember that you can do anything you put your mind to!
Turner’s Syndrome in Adulthood, Oxford Academic Endocrine Reviews
Turner Syndrome, Cleveland Clinic
Turner Syndrome, Kids Health
Osteopenia: When you have weak bones, but not osteoporosis, Harvard Health Publishing
Written by Barbara and Canon Pham, TSF volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.
© Turner Syndrome Foundation, 2022