A Day in the Life with Turner Syndrome: Throughout the Lifespan

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With this post, we conclude our “Day in the Life” series and recall all the amazing individuals we’ve gotten to know! Canon Pham, a high school senior from California and Turner Syndrome Foundation (TSF) blog volunteer, came up with the idea for this series and did a wonderful job making it happen. TSF is grateful for volunteers like her! Canon enjoyed hearing all of these stories and getting to know the participants. TSF also extends a huge “thank you” to Grace, Chloe, Helen, and Barbara for being a part of our series and our community! It is empowering to share our stories and important to remember that Turner syndrome (TS) is a condition that must be managed across the lifespan.

Grace - a Day in the Life of a Girl with TS

Grace, currently 12 years old, was diagnosed with TS shortly after her 11th birthday, when her pediatrician recommended genetic testing. She and her mother, Kristi, were then referred to a genetic specialist, cardiologist, endocrinologist, and urologist. For over a year now, Grace has been taking growth hormone injections and has grown over 3.5 inches. According to her mom, Grace is a warrior and champion daily, battling ear infections, anxiety, insomnia, ADHD, and dysgraphia. Since she entered middle school, Grace has also unfortunately been the target of bullying because of her height, but she does not let that stop her.

Even with all of these challenges, Grace succeeds in school and follows her passions, like playing in the band and participating in the debate team! She is also very athletic and enjoys  swimming, drawing, and riding her 4-wheeler. Grace enjoys slime and fidget spinners, as well. She is an inspiration, and her story proves that you can overcome obstacles and make a difference with a positive outlook and some support from loved ones! Read Grace’s full story here.

Grace

Chloe - a Day in the Life of an Adolescent with TS

Chloe

Chloe, now 18 years old, was diagnosed with TS when she was five years old and started growth hormone therapy at that time. She knew she was different, but she has persevered and accomplished outstanding things! Chloe reports that TS has had a significant impact on her life. However, her female development has been normal, and estrogen therapy has not been necessary. Today, she is attending Mayland Early College High School in Spruce Pine, North Carolina, allowing her to take both high school and college level classes. She will graduate this academic year with an Associate’s degree.

Though college-level biology classes have been difficult, science is Chloe’s favorite subject, and she has been very ambitious in her academics! In her free time, Chloe enjoys writing, sketching, and painting. She encourages everyone to find a hobby that will allow them to relieve any of their insecurities or stress. Art has helped Chloe overcome the challenges she has faced. Chloe exemplifies that individuals with TS can achieve anything they put their minds to. She reminds us to be strong and always pursue our dreams! Read Chloe’s full story here.

Helen - a Day in the Life of a Woman with TS

Helen, age 46, was born and raised in Montgomery, Alabama and now lives outside of Atlanta, Georgia. She was diagnosed with TS at 12 years old and was sent to Children’s Hospital in Birmingham, Alabama for a heart murmur that she has thankfully outgrown. She received her Master’s degree in higher education and works as an academic advising coordinator for community college students.

One of Helen’s current hobbies is genealogy, the study of ancestry and family trees. The biggest daily challenge Helen faces is taking her medications, which include a patch and cream for estrogen replacement and prescriptions for high blood pressure and cholesterol. 

Though she battles both TS and Type 2 diabetes on a daily basis, Helen is grateful to not have the heart, kidney, or other physical effects that some with TS do. Reaching things around the house has also presented a daily struggle. But Helen has been resourceful and has had the courage to ask for help with the things that require support. Helen reminds us that, with inner strength and confidence, we can work through our obstacles and overcome them. 

Helen also shared with us a lesson that her father taught her: “You

 

Helen

can do more than you think you can!” She is also an active TSF volunteer, and we are very thankful to have her as part of our team! Read Helen’s full story here.

Barbara - a Day in the Life of a Senior with TS

Barbara

Barbara, currently age 67, was born in April, 1955 in Miami Beach, Florida and was diagnosed with TS at age six. However, she did not hear the words “Turner syndrome” until age 15. Barbara tirelessly advocates for earlier diagnosis and increased awareness. She received her Master’s degree in computer science from Villanova University and recently retired from a 40-year career as a business application software developer. Her work had her traveling to Philadelphia, Kansas City, Atlanta, and Raleigh.

Barbara’s career also included entertainment. She was Mickey and Minnie Mouse at Disney World and performed in community theater during her 30s and 40s. She has battled infertility, hearing loss, and osteoporosis, but she has been adaptable and been resilient to achieve her goals. Barbara now volunteers with both TSF and the Turner Syndrome Society of the United States (TSSUS) and participates in a local TS support group in North Carolina. She proves that those with TS can live very full lives with resilience and adaptability! Read Barbara’s full story here.

TS Throughout the Lifespan

Now let’s look at how TS impacts people throughout the different stages of life, from child to senior. 

Child

Children with TS are growing up fast and interacting with other kids at school. They are expressing themselves through their play and learning and have an abundance of energy to share. The first five years of a child’s life are especially important for development overall. At that age, children with TS may now be showing signs of underlying sensory, attention span, or hearing issues. 

Young children may also be starting growth hormone therapy (GHT) upon recommendation from an endocrinologist. Hormone injections can be scary and unfamiliar, but it is important to trust the process and let your child know that they are not alone. The ways in which they play, learn, speak, and behave can tell  you a lot about how a child is developing. Spending time with them and making sure they are heard are very important.

Adolescent

Adolescence is a turning point in life. It is at this stage that patients with TS might notice that they’re not physically maturing

at the same rate as their peers. This could cause them to feel insecure. It is important to remind them that there are treatments and that they can be resilient and live full lives. It is also at this stage that endocrinologists may begin recommending estrogen replacement therapy (ERT) via creams or patches.

Importantly, adolescents with TS might begin to be emotionally affected by their infertility. A study published by the National Center for Biotechnology Information (NCBI) reported that 56% of adolescents aged 14 to 19 reported feeling distressed by their infertility diagnosis. Despite all of these challenges, adolescents with TS should know that they are not alone and that there are options for fertility preservation and starting a family.

Adult

This is the stage where patients transfer to adult care and become more independent. It is important to ensure that adult TS patients find a physician who has experience in caring for adults with TS and that they keep track of their medical records and treatments. Adults should communicate openly with their doctors and make them aware of their individual situation so that they can be responsive. For example, cardiovascular health is an important topic to discuss with their care provider.

Medical professionals may also be able to refer women for fertility treatment, if they’re interested. There are clinics and specialists trained in this field who can help find the right option for each individual.

Many individuals will also enter the workforce at this stage, and, though it may not be easy, they should put their best foot forward and believe in themselves. TS butterflies can do anything they put their minds to. Having a good support network helps. 

Senior

Though those with TS experience its physical effects throughout their lives, these can develop or worsen with age. The most prevalent examples are bone health and hearing.

Osteopenia & Osteoporosis
Healthline

Osteopenia and osteoporosis are conditions that both involve a decrease in bone mass and a heightened risk of bone fracture. Bone density usually increases throughout youth and adolescence, before stagnating during a person’s 20s. After this

stage, It has been estimated that those with TS are 20 times more likely to develop osteoporosis and twice as likely to fracture bones

Medical professionals started researching the impact of GHT and ERT on bone development in 2002, discovering a slight improvement in bone mass with these treatments. More research and testing is being carried out to examine the bone mass of those with TS in order to find a safe and effective solution. Regular bone density screenings are very important to ensuring good bone health.

Many individuals will also enter the workforce at this stage, and, though it may not be easy, they should put their best foot forward and believe in themselves. TS butterflies can do anything they put their minds to. Having a good support network helps. 

Hearing Loss

Sensorineural hearing loss also impacts those with TS, though it tends to progress with age. Up to 61% of patients with TS over the age of 35 develop hearing loss and require hearing aids. Though the cause of this is unknown, researchers believe that it could result from premature aging. Those without the short arm of an X chromosome, such as those with 45,X monosomy or isochromosome X, experience the most severe hearing loss. 

Medical professionals recommend early and consistent hearing tests because the early indications of hearing loss may go undetected. Seeking the best treatment and care possible can be beneficial and even life changing.

Excel ENT of Alabama

A Note from Canon

Canon

Thank you very much for reading our Day in the Life blog series! I feel so blessed to be able to share the stories of so many incredible individuals and to work with everyone here at TSF. We hope these stories offered some insight into the lives of individuals with TS and demonstrated that perseverance, adaptability, and courage can go a long way. With 2023 rapidly approaching, HAPPY NEW YEAR on behalf of myself and TSF! 

Written by Canon Pham, TSF volunteer blog writer, and edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.

© Turner Syndrome Foundation, 2023

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