If you are not familiar with Turner Syndrome (TS), you’re not alone. Despite the fact that TS occurs in 1 out of 2,500 females and in as many as 10% of miscarriages, not many people know about this non-inherited chromosomal condition, including many medical professionals. Why? The most common feature of TS in girls and women is short stature; otherwise, they look just like you and me.
I certainly didn’t know about TS before my pediatrician finally suggested genetic testing. A simple blood test revealed that my then one-year-old had TS. I was fortunate to receive an early diagnosis; more than half of the girls with TS are not diagnosed until after the age of 11 years, which is a missed opportunity for growth hormone therapy to achieve “normal” adult height. That’s why I’m sharing my story. Every child deserves a chance to grow (and every parent deserves a better diagnosis than “failure to thrive”)!
February, the shortest month of the year, is National Turner Syndrome Awareness Month. Aptly named, Short Happens is the campaign spearheaded by the Turner Syndrome Society of the United States (www.turnersyndrome.org) to raise awareness and educate everyone, including pediatricians, nurses and school nurses, to recognize the characteristics and to screen for TS. There is no known cause of TS and no cure; it can happen to any female, but it’s not the end of the world. With careful medical attention, constant screening and lots of emotional support, girls and women with TS live full, productive lives. Fast forward five years since my daughter’s diagnosis and life is pretty normal. My daughter is thriving in first grade and enjoys gymnastics, American Girl dolls and Girl Scouts. With growth hormone shots, she continues to grow. But what she lacks in height, she makes up for in personality—further proof that good things come in small packages!
ASHLEIGH DORFMAN, CSEP
Ashleigh Dorfman is a certified special events professional and owner of Posh Productions, LLC, a strategic event management firm specializing in corporate and not-for-profit events, as well as personal celebrations. She lives in Reston, VA with her husband and three children and can be contacted at