Martin Luis (2021)

CACNA1E c.2104G>A p.Ala702Thr

On photos you might think that Martin is a normal little boy.
Handsome and with a pretty smile.

But Martin's genetic defect hits him really hard:
He can't move on his own, no headcontrol, no sitting, walking or talking. He can't roll from one side to the other or on his tummy. He can't hold things in his hands or grab something.

Martin is our first child.
He was born 2021 after an uncomplicated pregnancy.
The first thing that came to our eye after his birth were his "pull out hands" (ulnar deviation). My first question was: "Shall they be this way?"

We started physical therapy at 3 weeks. The PT said at that time "he doesn't move like he should..." 
We (and he) did our best, but he couldn't reach any milestone although we worked really hard.

At an age of 7 months, he started doing strange movements after waking up. We filmed it and sent it to our doctor. She replied and 2 hours later we were at the hospital. There we learned about his Epilepsy. Infantile spasms, focal seizures (which might have begun already at his 4th month) and hypsarrhythmia. 

As we managed to control the spasms, the focal seizures went crazy. They increased like monthly through the ceiling. Since July 2022, he has tonic seizures every 3-4 minutes. Up to 200 tonic seizure in approximately 12 hours. (We don't count at night, but nights are bad as he has sleep problems since we started with epileptic medication). Nothing we try stops them. We hope, research can go faster and finds something that helps him quickly! Because ...

... he's such a lovely boy. Laughs at his "Quietschi" (squeaky noise making thing), loves yoghurt and fruit purees, focuses on light chains, loves to cuddle with mom, loves hearing music out of his Tonie Box, loves swimming with dad in the pool, ... 
He will certainly be a wheelchair model when he's grown up because he's such a handsome guy. (I don't say this just because I'm his mom....)

As Martins variant is de novo, he has got an healthy brother in 2023.