Living with Turner Syndrome: One Woman's Inspirational Journey
Turner syndrome is a rare genetic disorder that only affects females. It results from a missing or incomplete X chromosome, occurring in 1 in 2,000 to 5,000 female births. While some girls are diagnosed early, many live well into adulthood before receiving an accurate diagnosis.
In a recent episode of The Medical Maze podcast, host Don-Ellen interviewed her cousin Sara about life with Turner syndrome. Sara shared her experiences getting diagnosed as a child and learning to self-advocate. She also described her various treatments over the years, including growth hormone and hormone replacement therapy.
Common Symptoms of Turner Syndrome
Some of the more common symptoms of Turner syndrome include:
- Short stature - Sara is 4’10” due to her Turner syndrome
- Heart defects - Sara had open heart surgery to prevent aortic dissection
- Kidney abnormalities - Sara was born with one kidney
- Hearing loss - Sara now wears hearing aids
- Infertility - Most girls have underdeveloped ovaries
However, symptoms can vary greatly in degree and combination between individuals with Turner syndrome.
The Long Road to Diagnosis
For many girls and women with Turner syndrome, getting an accurate diagnosis takes years. Doctors are often unfamiliar with the disorder when patients come to them complaining of symptoms.
Sara stressed the need for educating medical professionals on Turner syndrome. She hopes increased awareness will help shorten the diagnostic timeline for others in the future.
Delays in diagnosis mean delays in treatment. It also often leads to misdiagnosis of other conditions. Early detection is key, as is finding a doctor knowledgeable about Turner syndrome for specialized care.
Living Life to the Fullest
Despite the challenges of Turner syndrome, Sara maintains a positive spirit. She focuses on living each day to the fullest and meeting any obstacles head on.
Her supportive family keeps her outlook bright. Sara is happily married and has a son who understands her condition. She also has a network of “butterfly sisters”—other women with Turner syndrome that she met through conferences. This community provides invaluable support and camaraderie.
To learn more about Turner syndrome, listen to Sara’s episode on The Medical Maze podcast. You can also visit the Turner Syndrome Society website for additional info on symptoms, diagnosis, and support.
Watch Sara's episode HERE
