Luka (2023)

CACNA1E c.2104G>A p.Ala702Thr

Luka is a twin. Beside his twin-brother he has two older brothers.

According to prenatal ultrasound we were expecting that Luka would be born with clubfeet. When he was born, his arms were also in a strange position. All medical staff connected his situation with twin pregnancy.

During that time he simply did not reach any milestone. He can't move on his own, no head control, no sitting, walking or talking. He can't hold things in his hands or grab something. No eye contact.

After we finished with clubfoot casts, we started physical treatments and minor improvement started to happen.

When he was 10 months old he started with spasmodic movements. Unfortunately that was West syndrome. He was lucky and reactive on medication.

One month later he started to have a high temperature, without medical reason. It lasted four weeks. Two weeks at home and two weeks in hospital. Also, he started with tonic seizures and still we do not have them under control.

Even with a good reaction to drugs his EEG becomes worse than the first ones. Genetic testing gives us an answer for his condition.

Doctors do not give us any hope for his future. But we hope that science will be faster than seizures and hypotonia. That's why we are proud members of CACNA1E International!