Chiara's Story

Good day, I’m the mother of Chiara and I’d like to tell you her story.

chiara[dropcap]C[/dropcap]hiara was born on 13th January 2011 by natural childbirth at 38 weeks, she is my second daughter (her sister is 5 years old) and the pregnancy was normal.

The first two days of her life passed without problems, Chiara also started to breast-feed, but the third day the nightmare began.

It was not possible to wake up the baby even by washing her in water and the doctors suggested to move her to intensive therapy ward where she stayed for 2 months.

At that time she had about 20- 30 crisis a day and they used a gastic nasal tube to feed her, they made a NMR (Nucler Magnetic Resonance), a lumbar puncture, many exams for metabolic diseases and some genetic exams, all with no results.

We were sent home without an explanation and we were told that if crises had not pass, she would not survive more than 3 years.

At home the number of crisis decreased and she learnt to eat with baby feeding bottle, but after a calm period, crises started again even stronger and MICROPAN was not enough any more, so I had to bring her to hospital where every time they gave her cortisone.

I contacted many hospitals but  all of them just told me all possible exams have been already made and that many forms of epilepsy have an unknown cause.  I made another try contacting the hospital of Florence where she stayed 3 times making other genetic and metabolic exams, other 2 NMR, all without any results, but they told me about a possible MITOCHONDRIAL disease.

In June the asked for some blood samples of Chiara, me and my husband and in October they told us she has KCNQ2 gene mutation, but it was not found in my husband and me, only Chiara has it.

At present we give Chiara Tegretol but we are slowly trying to decrease it, since now crises are fewer (3 or 4 each month).

Chiara can control her head, but she can’t remain sit and she can’t roll over.

She must eat everything whipped, she can recognise people, she catch things and take them to her mouth.

She cries often and it takes her a long time to fall asleep.