Turner Syndrome: Tammy's Story

At the tender age of 3, Emily could play violin and sing more than 50 songs. But the talented little girl was the smallest in her preschool class and she wasn’t growing. That’s when we started her on growth hormone therapy. She’s been taking the medication ever since.

Now 9, Emily is keeping up with her classmates in more ways than one. The straight-A student is fluent in Spanish, kicks with the best of them in Tae Kwan Do, plays piano and is now a Jr. Girl Scout. What’s more, she’s no longer the smallest girl in her class. We’re so proud of Emily and her achievements. She is such a great kid!

Emily was diagnosed at birth with Turner syndrome. The hospital diagnosed her right away after they saw her feet were puffy.  She had some trouble nursing, but otherwise seemed like a happy, healthy baby.

Five days after she was born, Emily underwent surgery for narrowing of her aorta.  As scared as I was, there were children all around us who were in much worse condition. I just remember thinking that we’d get through it and be able to take our daughter home.

With a lot of love and support from family and friends we persevered through Emily’s medical problems, including chronic ear infections, hearing loss, hypothyroidism and scoliosis.

Emily has especially come to rely on her 5-year-old and 13-year-old sisters to help her cope. The trio is inseparable during good times and bad.  They are practically joined at the hip.  Emily also appreciates the love and encouragement she gets from her stepfather and his family. Recently Emily’s maternal grandparents moved to Floridato be nearby as well.

And the support network doesn’t stop there. Every three weeks, Emily takes an hour-long flight to spend the weekend with her dad, “Daddy D,” as Emily lovingly calls him. Her dad, stepmother, and stepbrother are from Columbia, so Emily really soaks up the Latin culture when she goes there. She speaks Spanish, goes to Latin dances and has dinner with different families. She really lives a two-culture life.  She also makes trips toColombia andCosta Ricato visit her paternal grandparents.

To help her reach her height potential, Emily gets a growth hormone shot every day. Her family calls it a “teeny-weeny” because Emily barely feels it. In fact, she’s sometimes brave enough to do the injection herself. Bedtime is teeny-weeny time, and it’s such a nonevent because it’s part of the routine.  We don’t even think about it – we just do it.

Every six months, Emily’s endocrinologist measures her on a growth chart. She is in the 15th percentile for height and is still growing.  She’s a school favorite. Everyone knows her, and they don’t treat her differently because she has Turner syndrome.

Emily will continue growth hormone therapy until she is 12 or 13 and then will begin estrogen therapy to help her through puberty.

By far the most difficult medical struggle for Emily up to this point was her scoliosis, an exaggerated curvature of the spine. She wore a special brace to bed every night for three years to prevent her scoliosis from getting worse. The brace was very uncomfortable and often kept Emily from sleeping well.  Emily’s curve regressed after her year and a half long training in the martial arts.  Strengthening her core body muscles seems to have made a very positive impact.  Her orthopedic specialist no longer requires her to wear her brace.  Yippee!

As is typical in Turner syndrome girls, it is difficult for Emily to process visual information. It takes her longer than other kids to do her homework because she is slower to comprehend written material. It’s also a challenge for her to learn Tae Kwan Do moves by watching her instructor demonstrate them. Fortunately, her topnotch verbal learning skills help her compensate for these deficits.

She can learn everything that we can, but you have to give her a detailed explanation. If she can hear it, she is fine.  She has consistently achieved the Effort Honor Roll throughout K-4th grades.  In the photo above, Emily smiles with her 4th grade teacher at the Student of the Month Assembly.

To maximize her educational success, Emily’s family has encouraged her school to adopt an individual education plan (IEP) for her. In adopting the plan, the school has agreed to make accommodations for Emily’s – Nonverbal learning disability. For example, we would prefer that Emily be allowed to take written tests in a room away from her peers, read the questions aloud if needed and not be timed. She does much better with minimal distractions. It’s really hard for her to concentrate when other people are in the room.

I am not hesitant to share my family’s story because I hope others will benefit from our experiences.  If we can educate, share and affect someone else’s life in a positive way we feel like we make a difference.

For families who have just discovered their child has Turner Syndrome, I offer this advice:  Learn everything you can as early as possible.  The earlier the intervention the more possibilities you will create for your daughter.  Become a member of MAGIC, get involved, and make it a family vacation to attend MAGIC’s Annual Convention each year and let your child make friends with other girls like her.

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