The Turner Syndrome Foundation (TSF) is excited to bring you the second blog post in the ‘’Day in the Life” series! In this post, we’ll take a deeper look at the life of a young girl with Turner Syndrome (TS) and discuss some of her daily activities. Let’s meet 12-year-old TS butterfly Grace and hear about her daily experiences with TS, as told by her mom, Kristi.
Everyday Life with TS
TS is caused by an entirely or partially missing X chromosome, affecting 1 in 2,000 live female births. Among the most common 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 also have a higher risk for bone fractures, osteoporosis, structurally different kidneys, and scoliosis. Additionally, those with TS are more prone to developing ear infections; 50% of people with the condition have sensorineural hearing loss. Other sensory differences in those with TS include nearsightedness, farsightedness, and red-green color-blindness.
As a result of these issues, those with TS must visit cardiologists, endocrinologists, ophthalmologists, orthopedists, audiologists, and/or other specialists to receive the best care possible. Many children with TS take daily growth hormone therapy (GHT) injections, and later hormone replacement therapy (HRT). It is essential that parents of children with TS seek the proper medical treatment so their children can live the healthiest and fullest lives possible.
It is important to remember that the effects of TS are different for everyone. TS is only one part of a person who has been diagnosed. As you will see below, there is much more to butterflies like Grace than just their diagnosis.
We found out Grace had TS shortly after her 11th birthday. At an appointment with her pediatrician for her 11-year immunizations, he recommended chromosome testing due to her lack of growth. We were then referred to a genetic specialist, cardiologist, endocrinologist, and urologist. Grace learned a lot from Dr. Chan, her urologist. For example, she learned that TS is caused by having a partial or missing X chromosome. In her case, she has a partial Y chromosome, so she has a mosaic form.
Having a mosaic case of TS means that the physical symptoms and manifestations of TS might be less pronounced and visible on the surface. But it is also important to discuss the experiences of TS butterflies like her. Grace says she also found out that learning disabilities are often associated with TS, although her vocabulary is extensive (another TS trait).
Like many girls with TS, Grace takes GHT injections nightly. This began 10 months ago and will continue for another year. Since she began this therapy, she has grown 3.5 inches. Other health issues include frequent ear infections and allergies, due to smaller–than–average eustachian tubes.
Some speech irregularities are a secondary result of the ear problems. Anxiety, insomnia, ADHD, and dysgraphia (a learning disability that affects writing abilities) are also part of Grace’s daily struggles.
School itself is not an issue. Grace receives classroom accommodations for her learning problems. However, bullies have been prevalent for the last two years, since she entered middle school. Unfortunately, her height is the subject of almost daily comments.
Despite these challenges, Grace has found a way to succeed and have fun in school. Her favorite subject is history, and she is involved in the school band! She is also planning to start debate in the fall! Grace states that her teachers and counselors have been very supportive throughout her academic career.
Grace's Active Life
A day in the life of Grace is busy! Outside of school, she enjoys swimming, drawing, and riding her 4-wheeler. Fidget spinners and slime are also part of her daily activities. As you can see, Grace has managed to persevere through her challenges and live a very active life while having fun, just like most young girls her age!
Takeaways from Grace's Journey
Grace is a kind, thoughtful, funny young butterfly who wants everyone to treat others the way they would like to be treated. She is a glowing example of how TS butterflies can still lead very active and successful lives, despite the many challenges they may face along the way. Her resilience, compassion, and spirit are unbreakable and remarkable. Grace reminds us to stay strong and live life to the fullest!
While Grace has not yet found her “silver lining” in regard to having TS, the resources TSF offers can help her and other girls like her find support, resources, and a strong community. Remember to continue reading the TSF blog and check out our other programs, such as our Star Sisters private, online support group, and the Awareness Committee. TSF also offers the 24/7 Caregivers Group for those caring for individuals with complex cases of TS requiring constant care.
Written by Grace’s mom, Kristi, and Canon Pham, volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator.
© Turner Syndrome Foundation, 2022