Kristian was born ten years ago after a difficult birth but seemingly as a healthy child. As time went on, we observed motor skills deficits as well as reluctance (inability) to speak. After his third birthday, we started to discuss that with the doctors. We have undergone several hospitalizations in Prague’s hospitals Krč and Motol - EEG, EKG, magnetic resonance, etc. Each time he was put in the "dysphasia" diagnosis column but basically because the doctors were unable to find anything and didn’t know what to do with him. In Krč hospital a basic genetic test was done years ago but nothing was found. Couple years after that during another of our hospitalizations in Motol hospital the doctors team decided to do the most detailed genetic test that probably exists and only then did they discover the newly created genetic mutation on the SCN8A gene. But again, given that this mutation was only recently discovered (abroad about ten years ago) and extremely rare (we currently know of three individuals in the Czech Republic, including us), and that it is de facto the opposite of epilepsy (I know that children abroad have severe seizures from which they might die, which, fortunately, is not our case), the only concern of the doctors is whether Kristian suffers from seizures. Probably the worst thing about the whole situation is that no one cares about us, no one has taken us "under their wing", no one has any experience with the disease...

Kristian attends the Jaroslav Ježek School for the Visually Impaired Children. We currently also attend private swimming lessons (very beneficial for motor skills), speech therapy, and neurological and occupational therapy treatment at the psychiatric hospital in Bohnice.

 

Kristian’s mental age is around 6 years (in some ways more, in some ways less), but the gap between healthy kids and him keeps widening, and no one knows what we will achieve and how much care he will need in the future. Physically, he has visible motor problems, both gross and fine, speaking... And for these reasons, he needs as many general activities and treatments as possible...

 

There are neurological clinics where patients are treated as in spa with stays of two or more weeks but that is no longer in our possibilities...

 

Thank you in advance for your help and goodwill.

 

Kristian's parents