The Joys and Fears of Raising a Daughter With Turner Syndrome

February is Turner Syndrome Awareness Month. Here is our story.

My daughter has Turner syndrome (TS) which is a non-inheritable genetic disorder that affects one out of 2000 females. Some of the symptoms include short stature, ear problems, auto-immune disorders, and heart defects. This is what Turner syndrome has meant for our family.

1996

My 6-week-old daughter is lying unconscious on a hospital bed. The single bed dwarfs her while wires and tubes are connected to many parts of her body. Medical equipment lines the wall behind her bed measuring her heart rate, oxygen levels, pulse, urine output and more. Alarms go off constantly while the nurse dedicated to her care turns them off. A large vertical bandage on her chest covers the new incision from her open-heart surgery. Her only other piece of clothing is a diaper. Her tiny body is swollen and hard to look at.

I am sitting by her bed, grief-stricken and trying to hold myself together. Family members come to support me, but they are dazed and speechless. I end up consoling them. The hours by her bedside have taken their toll; I am exhausted from worry. Eight days post-surgery, my husband and I are headed home and terrified that she is going to die on us.

Three years later, she is diagnosed with Turner syndrome and we find out her heart issues and her slow growth are related. The TS diagnosis answered the question of why she wasn’t growing but brought up so many more. We begin the journey of 12-plus specialists and endless doctor’s appointments. She begins a regimen of daily growth hormone shots for the next 13 years. Early on, all three kids get a treat during Nicole’s shot to keep them all involved. She gets used to the shots fairly quickly and by 9 years old, she is giving herself the shot.

Diagnosis After Diagnosis

My daughter seemed to have a new health concern every year: tubes, tonsillectomy, celiac disease, enlarged aorta, Crohn’s disease and more. Because her numerous ear infections could result in hearing loss, she had tubes put in three times over her childhood. She recovered quickly from her tube surgeries as well as her tonsillectomy. When she was diagnosed with celiac disease, it changed the way our entire family ate; it took months to learn what she could and could not eat. When she was diagnosed with an enlarged aorta at 9 years old, she was heartbroken when she had to quit gymnastics. We had to monitor her sports participation after that diagnosis. Her Crohn’s diagnosis brought new symptoms, medications and doctors.

Early on, I found the Turner Syndrome Society of the United States (TSSUS), a patient advocacy organization. Between TSSUS and a Yahoo group email (now Facebook Groups), I found support and friends who understood the unique challenges of raising a daughter with TS. I became an advocate for TS serving on the Board of Directors of TSSUS. We also took family vacations to the TSSUS’s Annual Education Conference to places like Disney World, Seattle and North Carolina. They had activities for siblings and sessions for the girls and parents; I hoped it helped normalize TS in our lives.

Turner syndrome, you took my healthy baby, my sense of security, my trust in doctors after the first cardiologist misdiagnosed her and so much more. The endless research and education, doctor’s appointments and constant worry took me away from my husband as well as all three kids.

Turner syndrome, you gave me constant fear of what was next for my daughter, the daily stress of worrying that she could die of an aortic dissection, anxiety and more. I started taking anti-anxiety medications within a few weeks of her diagnosis and later sleeping pills to still my anxious mind.

2017

Twenty-one years later, the baby is now a young woman. The scene at the hospital is eerily similar to before, the tubes, the wires, and so much medical equipment. A vertical bandage covers her new open-heart surgery scar. Once they pull out the intubation tube, her scratchy voice asks if I am OK, which makes me cry. I am dazed and speechless. I soon realize she has taken on the role of reassuring and consoling her family. She goes home just four days after her open-heart surgery, and her recovery is amazing! She has never let her health problems keep her from achieving her dreams. Two years later, she has been accepted into medical school.

Turner syndrome, I hate that you took my healthy baby, but I love the amazing young woman my daughter has become — a resilient, smart, beautiful daughter who is not only surviving but thriving in medical school.