Rose Michel

Rose was born the 3rd of may 2014 in Paris. The beginning of pregnancy was ok, at the 6th month echographs saw a “ventriculomegalie”. I did a foetal RMI, everything was “perfect in her brain” as the doctors said. The “karyotype” was fine too.
Rose arrived 3 weeks early, she started to grow up like every childs. At 9 months old she didn’t manage to stay seated, she didn’t smile a lot, we felt her really sensitive and stressed. We decided to start some tests with a neurologist team to see if something was wrong. We did RMI, blood samples for DNA test, electroencephalogram and electrocardiogram : everything was OK. The last test we did was the sequenced exome which reveals the DDX3X neo mutation (in february 2017).
While this 2 long years of tests Rose takes a lot of time to learn everything but she manage to crawl, then walk on all fours (29 months) and stand up. She says some words and she understands everything. She have speech and body therapies 3 times per week and swimming pool every sunday, she loves water. She is a very happy girl, very funny, quiet and easy going. She is very sociable and observant. She doesn’t walk and doesn’t speak yet but doctors are quiet confidents regarding her development.
She is a very unique and special girl which bring us a lot of love, kindness and happiness. It’s not easy every days because she seems more vulnerable and special needs than other kids but LOVE and HOPE is our guide and we are positive and confident for her future.