The story of Téhani
Téhani was born in September 2011 quite normally without any problem at birth but over the days and then months the doubt quickly set in when we noticed that Téhani did not really look us in the eye. Moreover she was really too calm a baby hardly moved. And at the age of 10 months a doctor confirms that she is hypotonic (that she has no muscle tone) and following this announcement a whole battery of MRI examinations and genetic analyzes are carried out. In 2013 we learn that she has a rare disease Phelan-McDermid syndrome or more precisely for Téhani a 22q13.3 deletion, our life seemed to tip over at this moment towards a dark unknown and a battle where we feels good alone. With hindsight, I would say that Tehani opened a door to a wonderful, albeit difficult, world for us. She takes us up very often with a smile, she took her first steps at the age of 5, and walks better and better, she is non verbal , she is not clean and eats mixed. She has no concept of danger. We have created an association bearing the name of Téhani and many families have joined us so despite this name of a rare disease we feel less alone.
Happy International Rare Disease Day everyone!