Your Daughter is Perfectly Created
My name is Stephanie Weaver. My daughter, Alyssa Cadence, was diagnosed with Turner syndrome at birth. The day of her birth was definitely an unexpected experience. We had no idea she had TS. When the doctors noticed her puffy feet and tiny cry, they were concerned.
Even though her lungs were working fine, she just couldn't project her cry. They told me to follow up with my doctor when we left the hospital. But as a mom, I just had a feeling I needed to know more.
A few years back, I had chosen a pediatrician for my older daughter because she had diagnosed a rare kidney disease my nephew had. I figured she must be an amazing doctor. Little did I know three years later she'd come to the hospital on the evening of Alyssa’s birth and be the only one to know she must have Turner syndrome!
I called her office and explained Alyssa’s appearance, and asked if she could come and examine her. She immediately ordered blood tests and an echocardiogram. She was diagnosed with a coarctation of the aorta. She stayed in the NICU and was closely monitored. After a week and half, her heart condition had become critical, and she was transported to the AI duPont Hospital for Children in Wilmington, Delaware. She had heart surgery the next day, and came home with us 10 days later.
That was just the beginning of my journey as a parent of a daughter with TS. As she grows, her medical and learning challenges change and there are new things to learn.
Despite numerous ENT issues, hernias, feeding dysfunctions, and significant learning challenges, Alyssa is the most bubbly, happy, cheerful and optimistic kid I've ever known! Early diagnosis is so important so that girls have plenty of time to address their medical and learning challenges as early as possible.
I want to encourage every parent and share that you are your child's best advocate. Educate yourself as much as you can about Turner syndrome. Spread awareness to others. Don't assume doctors will always know every detail. Sometimes I have known more than the doctor.
Don't be anxious because you don't know all of the outcomes of all her challenges. Just choose to learn about the TS clinical guidelines, treatments and symptoms for the age your daughter is currently. It's less overwhelming this way.
And don't lose hope.
Your daughter is perfectly created, you CAN get through this, and you get the amazing PRIVILEGE of being her parents. Just face one hurdle at a time.
Additional Resources
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome (Physician Version)
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome (Patient and Family Version) Order a free copy
