Ikram (2021)

CACNA1E c.1807A>C, p.Ile603Leu

When Ikram was born you could notice that her legs were not in the correct position. She was born with clubfoot, and her fingers were also not formed like other children’s.

When Ikram was six months old she seemed in good health. She was smiling, full of life, and loved interacting. Sadly, shortly after this period, she started having epileptic seizures, and things began to change.

Now, at three and a half years old, Ikram hasn't acquired any motor skills. She can't sit, turn to her side while lying down, and her weight remains stuck at only 6 kilograms. Genetic testing revealed the CACNA1E mutation.

Thank you for giving us the courage to speak out. I hope one day we’ll find real hope for our children. 

With love,

Touria