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Elisa is a wonderful little girl aged 6.
When she was born she was surrounded with loving care and a bit of concern by her mother Paola, her father Marco, her sister Gaia and her little brother Federico.
She had a sweet face and a feeble nice look. She grew up surrounded by the loving care of her parents, brother and sister, uncles who worshipped the newly born.
Time passed by and Elisa was showing gradual tiredness, atony; she was beginning to experience difficulties moving around and she continuously tried to stand up and hold onto her playpen unsuccessfully.
She also behaved strangely with the ones around her: elusively, could not look back at you, she did not appear to want to grasp objects like all children of her age. “Not all children grow up in the same manner” we were all saying to each other and even the paediatrician assured us “she was a very normal child and she would soon catch up with the rest of her age”.
None of us could accept the thought that she was not normal and refused to talk openly to each other. But the grandmother Annunziata more experienced with children and grandchildren forced us to face the truth.
This is how our nightmare with medical examinations at specialists began, among them painful and frequent examinations for blood drawing, hospitalizing periods in the highly professional hospitals of Tuscany to have a diagnosis that would give a name to the disease that took away the “normality” of Elisa and gave us so much grief and great concern.
Not even with the genetic research did we obtained concluding results and however, as it usually happens in these cases, even if there is not an objective result, to Elisa it was however diagnosed the “Angelman syndrome” since she had several symptoms leading to this disease.
This disease falls within the so called “rare diseases”. In her present state Elisa can hardly stand up, does not speak, she laughs without reason, does not control her sphincters, shivers, she salivates anomalously and keeps on having epileptic attacks.
At the time being there is no cure to heal the persons suffering from the Angelman syndrome. There are however a series of rehabilitation options which can help her improve her language skills, movements and behaviour.
We know that our Elisa will never heal completely but we want to do whatever it is in our power for her whitin the limits of the medical knowledge in this field.