Anna and her story

Anna and her story


Anna was born in 2016. Initial development was regular, with a little effort in latching the breast at first, but then everything settled with excellent growth, despite abundant and frequent regurgitation.

Sleep was immediately hard, always short and light. She started walking alone at 18 months, showing a somewhat awkward gait. On the other hand, her parents are not graceful athletes either, and then every child has his own times.

Day by day she became more beautiful and smiling.

Very sensitive and susceptible to external events, disturbed by loud and sudden noises. There was no reason, however, to suspect any disease, her general health was good. At the nursery school they had reported a tendency to self-reported play and recommended to start relational psychomotor sessions that had been successfully undertaken.

Then, around the age of 3, I noticed some very short, as well as frequent, winks of the eyebrows every day. The eyes that went up kind of breaking the contact, her tilting head, the violent myoclonus in her forearms and hands, shots behind the shoulders particularly strong when falling asleep, her head falls forward.

And so we entered the world of epilepsy, with some other discomfort in behavior and language development. We did not have a precise syndromic classification until the outcome of a larger genetic panel that highlighted the mutation in the Nexmif gene.

From the beginning it was all so much complicated, now we know why. We are not wrong, we are very special.

Knowing your enemy helps to fight him and, together, we will win.