Catrina was diagnosed with Turner Syndrome at 20 after a chance encounter with a cashier at her college bookstore. The cashier asked her if she had Turner Syndrome. Catrina’s mother explained, “They looked at her when she was little, but they said she didn’t have it. When she was older and had her period, they were doubly convinced.”
The cashier asked because her own daughter had TS. “You have the same stature and build as her. You have a lot of the physicality of a girl with Turner Syndrome, like a low hair line, shorter fingers. Did you have any ear problems when you were little?” Catrina was floored. She had 15 ear surgeries over her life.
Receiving a Diagnosis
Catrina would later be diagnosed by a blood test called a karyotype, in which chromosomes are examined under a microscope to find the exact location of an abnormality. It took her and her mom six to seven months before her doctor ordered the blood test. The results showed that she had full Turner Syndrome and no second X chromosome.
Learning that she had Turner Syndrome was a relief because she knew now where all of her medical problems and insecurities came from. If it hadn’t been for that meeting with the cashier, she still wouldn’t know she had it today.
Catrina explained in detail how this late diagnosis impacted her. “I would advise doctors to know that Turner Syndrome comes in many forms. Doctors did not know that a woman with Turners could have some symptoms and not others. They believed that all girls with the condition were exactly the same. It took six months for me to even convince my doctor to let me get the karyotype. The biggest thing for doctors to remember is that Turner Syndrome and other genetic disorders are not all or nothing. To have Turner Syndrome does not necessarily mean that you won’t have periods; it just means it’s more likely that you won’t. Doctors need to understand symptoms or diagnoses will fall through the cracks.”
Why does she feel early diagnosis of this condition is so important? “Early diagnosis is so important because it can save and improve lives. It can help doctors and patients better prepare for medical situations and can prevent some from arising. For Turner Syndrome specifically, it can help to understand things such as skeletal, ear, and heart defects. Knowing about issues can help to start preventative medicine early on when still treatable. Girls can start growth hormones to grow taller, but only if they are diagnosed as children.”
How Awareness Month Makes a Difference
Increased awareness can lead to an early diagnosis, made possible when we all take action for Turner Syndrome Awareness Month. Why is Awareness Month so important? Catrina explains, “It’s so important because many people, including health care professionals, do not know about Turner Syndrome. Creating awareness will help to increase knowledge about this condition and therefore, more help for those affected by it. Early diagnosis can lead to prevention of other medical issues and catching medical issues when they are treatable. Also, Awareness Month can bring together those affected by Turner Syndrome to meet one another and share their stories. This helps boost morale for those who truly need it.”