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“Why me” to “What for?” A remarkable story.

I never thought I would have the opportunity to write about my personal Turner Syndrome story as a physician-immunologist, researcher and mother. It was an ordinary day, like any other day. I opened my email and received my daughter’s karyotype test. Her pediatrician and endocrinologist had decided to ask for this specific exam because she was worried about growth stopping in a 12-year-old girl. I just took my daughter to the pediatrician for the annual checkup and because we wanted to know if everything was okay with her sexual development. My Isabella was a healthy baby, until that moment. She was psycho-emotionally intelligent and lover of the corporal expression through ballet.

Naty & IsabelleI stared at the email sent by a very prestigious private clinic in my city for a few seconds and finally opened the attached file. The diagnosis was an “abnormal mosaic female karyotype” and then it said “monosomy of the X chromosome and isochromosome.”  At that instant I stopped breathing… took a new breath,  and started my duel. It was as if I could not think clearly. So sitting in my office at work I started to cry, called my secretary and said to her: “Now I know why my daughter has not grown up like the other classmates, my daughter has a genetic problem…” My crying intensified and my soul broke into pieces. Feelings of guilt crowded my heart and I started blaming myself for not realizing it before there was a problem.

Then, after calming down a bit, I contacted my sister via email, who is a geneticist, working in Toronto (Canada). She immediately made many suggestions about what to do. After reading her extensive and detailed communication, full of scientific terms and genetic jargon, I could only remember these words: “You and your daughter should go seek genetic counseling.” And I said to myself: “That’s what I will do!” And that’s because I really did not know how to tell my daughter that she has a genetic disease and only then, 12 years later, she was diagnosed.

I asked my secretary to call the Genetics Unit at the University, the most important in my country and where I have had the honor to work for almost 20 years. The news about my daughter’s health ran fast through Canada and my mother called me on my cell phone. My mother, also a physician and pediatrician, graduated from UCLA in Los Angeles, California and was the first endocrinologist in my country to initiate, almost 40 years ago, growth hormone in girls with Turner syndrome in her hometown of Maracaibo -Zulia state. Her experience was unique and very gratifying with her most consenting patients.  My mother with her maternal and pediatric nature assured me by saying: “Do not worry, everything will be fine for your daughter. It is now important to start doing all the tests and check-ups on the organs.” Just like my sister, she recommended me to seek out a pediatric endocrinologist to initiate all the tests and begin growth hormone treatment, and later the substitute treatment of female sex hormones. I was a carousel of emotions. Feeling of denial, deep sadness, rage and even fear visited me.

I thought a lot as I was looking for help with the specialists. One day, the political and economic situation in my country got so bad that I could not continue the hormonal treatment, and with great courage I made a big decision, for the future and the health of my daughter to move permanently to another country, in order to guarantee her quality of life. I began doing all the legal procedures to get our new life. This took almost two years of physical, mental and spiritual struggle. Finally, we achieved it! and I say “we” because it became our goal of life, a mother and daughter team. Today, my daughter attends a school of good academic standing, is a brilliant student and is doing the elective subjects that she is passionate about, dance and theater. In addition, she resumed her ballet classes in one of the best ballet academies in our new city and will participate in the youth choir of our church. Aside from her relative low height, and that could be attributed to not being the smallest in her classroom, she has no stigma of the disorder.

But what did we learn from all this? That one must be a person of faith. A faith, that allows us to change the question, Why me? to What for? And respond, to be better … and thankful to our Higher Power for the challenge that he placed in our lives. I also learned other things, such as being a grateful person, to return to others what God so generously gives me day by day. And finally, to forgive- myself since I am not guilty of the situations that life presents. Nonetheless, for the diagnosis of my daughter. Yes! I am responsible for ensuring her well-being, not only physical, but also her psycho-emotional, intellectual and spiritual stability.  To give her much L O V E, with each of its letters. I learned that every day I love my beautiful Isabella much more.


Compelled by her story? Leave your comments below.

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4 Comments on ““Why me” to “What for?” A remarkable story.

  1. OMG I am from Maracaibo and I have TS too! I wonder if your mom was my doctor when I started my treatment. Thanks for sharing your story!

    • Hey Daniela, thank you for sharing. How crazy awesome would that be? You can share yours too. We’d love to hear it! You may contact me at mbobadilla@tsfusa.org with questions.

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