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My Daughter and I Both Have Turner Syndrome - by Gia Bugni



The first thing a young uncle said when he saw me as a newborn was, "She has big ears." I grew up pretty "normal", but only reached a height of 4',11". I had a normal puberty and seemed healthy.

As an adult, I realized that I had ADD without hyperactivity. I fell through the cracks because it wasn't known that a child could have it without being hyperactive back in the 70's. I had a miscarriage and learned that I had a bicornate uterus and small fibroid tumors.


I had difficulty conceiving after that (about 2 years of trying per child), had a daughter with Turner syndrome (TS), another miscarriage, then my son when my daughter was 3.5 years old. Shortly after he was born, I needed a complete hysterectomy due to severe endometriosis that caused two periods a month and excruciating pain.


Until my daughter was diagnosed with Turner syndrome at 15 years old, I had never heard of it. She still looked like she was 8-10 years old when I insisted that the doctor figure out why. I did lots of research after that, and suspected that I may have it to, but kept it on the back burner. I was too busy taking care of my kids, especially my daughter, with a host of new diagnoses that resulted from the TS discovery.


Fast forward to now. I am 58 years old. My arthritis began when I was 30 an it’s now at the stage of most patients over 70. I learned I had Hashimoto's thyroiditis at the same time as my daughter. I have mild scoliosis, my ears are set lower than most, my neck is short and wide, my upper palate in my mouth is high and narrow, and I have Type 1 Diabetes (diagnosed in 2011). I recently learned that my mitral valve and my tricuspid valve have trace regurgitation, and I've had slight bradycardia and PVC's (premature ventricular contractions) for a few years.


I decided to get the chromosome study for Turner Syndrome! The result was "an abnormal female karyotype with a deletion of the almost entire short arm of one X chromosome was observed in all examined cells." Under "Nomenclature" it reads,"46,XX,del(X).


My daughter must have more damage to her X chromosome, because her ovaries were completely nonfunctional. She needed hormone therapy just to have puberty, and still had trouble with periods. She had a complete hysterectomy to relieve the pain and eliminate the cancer risk.


My survival past my mom's pregnancy is a miracle. My kids are double miracles. My daughter's survival past my pregnancy is a triple miracle! Now I am challenged with getting my doctors to understand my newly found needs as a TS patient. Fortunately, my endocrinologist is well informed.

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