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Isabel was born in Buenos Aires on February of 2009. Until the age of two Isabel was a healthy little girl. She had the life that any other child could have: school, little friends at park, holidays and trips to Spain to visit her family. And always a big smile on her face.
Around the time of her second birthday we started to watch weird things: she began to twist her right foot while walking, started falling, her development of language slowed down This was the beginning of more than one year of diagnostic odyssey. While her deterioration was evident, many doctors were involved searching for an answer that seemed would never arrive. She started to receive some therapies to help her to recover her lost skills.
many doctors were involved searching for an answer that seemed would never arrive...
On 6th of august of 2012, the answered came unexpectedly from one of her many pending results, in a rainy afternoon. A disease discarded in a few tests, presented in an uncommon mutation, a strange and unknown word, was the answer: TAY-SACHS.
Since then this is our life: help Isabel to have the best possible life, be with her through all the terrific changes this disease brings, cope with all this, as parents, as family, as human beings. Love her in a fiercely way because we understand that today she is with us. And also understand that there is another world apart from our comfortable past lives, in which many people suffer from rare diseases. A world that needs from people like us, family, friends, to be put under the spotlight of the society to raise awareness. People, medical researchers, doctors and health care givers, Governments, politics parties. All the society must know that we can avoid more ill children if we work together for it.
We will do our best to find a miracle for Isabel.
Since then, as a mother, this is my fight. Isabel is being followed by a marvelous team of specialist in England. At the end of our first visit, the leader of this team looked at my eyes and said this to me: I don't believe in God, but I believe in miracles. We will do our best to find a miracle for Isabel.
That is my hope. A miracle for Isabel and for all the children that suffers from Tay-Sachs, or other rare diseases. And her endless smile is the inspiration that encourages me to continue with this struggle every day.
For more information about Isabel and updates on her health and family please visit her blog (in Spanish!): http://www.talvezisabel.blogspot.com.
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