My Daughters Turner Syndrome

What is Turners Syndrome?

Turner syndrome is caused by a defect of the second female sex chromosome. It’s known to be called the Missing X. A typical person has 26 Chromosomes and with TS, they are missing the whole or partial part of the X Chromosome. Turner syndrome (TS) affects approximately 1 out of every 2,000 girls in the US. You can be diagnosed with TS at any age. It doesn’t matter when you’re diagnosed, the test used to determine Turner syndrome is the same—a karyotype. A karyotype is a blood test that produces an image of your chromosomes. Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of seven girls who all had the same unusual developmental and physical features. There is no cure for TS, but human growth hormone and estrogen replacement therapy will help manage it.

Turner Syndrome Facts

  • short stature and non-functioning ovaries which causes infertility
  • some women may also have extra skin on the neck (webbed neck)
  • puffiness or swelling (lymphedema) of the hands and feet
  • skeletal abnormalities
  • heart defects
  • high blood pressure
  • and kidney problems
  • People with Turner syndrome are at a higher risk of developing other medical problems, including heart and kidney abnormalities, hypothyroidism, and ear infections

Emily Grace

My daughter was diagnosed with Turner Syndrome at birth. When she was born her hands and feet were very swollen and we knew from sonograms during pregnancy that something was “different” with her. After her diagnosis I was devastated. I had no Idea what Turner Syndrome was or how it was going to impact her life growing up. After a deep depression, and lots and lots of research and doctors appointments, I was at peace. Not any two girls with Turners Syndrome are the same, they each have different symptoms and features of TS. So far with Emily, she has been fortunate to not have any serious health issues that we are aware of. She sees specialists a few times a year for routine check-ups. Has been to physical therapy, and will soon begin growth hormones. She is so smart, so loving, and I am beyond blessed to have her! She has three older siblings that wait on her hand a foot and I’m so happy to share her story with others to help spread awareness. Thanks for all the support I have received so far and look forward to sharing more.