Jakob Hayato (2021)

CACNA1E c.1054G>A (p.Gly352Arg)

Our son Jakob was born in June 2021 after a smooth pregnancy. He is our first child. During the 22 weeks anatomy scan we learned that he had clubbed feet, an orthopedic malformation. We did our research, found an excellent treatment option and were confident that he would walk without problems.

There were no further signs for any severe health conditions. A geneticist reassured us that everything else seemed to be fine. Jakob was the sweetest, most handsome newborn. He was very relaxed and barely complaining. After a few weeks, we saw the first developemental delays. He wasn't opening his hands, rarely made any eye contact and streched back like a rainbow. At the age of six month, he began to show strange repetitive movements - seizures, as we learned later on. 

At this point, Jakob was diagnosed with "West Syndrome". In February 2022 we got the results from the genetic testing and learned about his CACNA1e-Mutation. A long journey of trial and error regarding his medication began and is still going on. Since there is no medication that specifically targets the malfunction caused by his mutation, we didn't manage to stop his seizures. For about one and a half years he had seizures every 3-5 minutes. Besides his medication, Jakob receives further treatments: he has an amazing physiotherapist, speech therapy and visual therapy. He didn't reach any developemental milestones until this day though and isn't able to hold his head.

Instead of focusing on everything he can't do and all the traumatic experiences he (and we as his parents and family) had to endure, we want to describe what he actually can do: 

Jakob can laugh and cry. He is able to swallow and loves cheesecake. He breathes on his own. He enjoys swinging and bouncing movements. Funny sounds like ringing or rustling sometimes are catching his attention, also light reflexes and shining things. He likes black and white patterns. Warm and salty water relaxes him. Everybody is charmed by his big brown eyes and his curly hair. When he laughs, it lightens our life. 

The one thing we wish for him is to feel comfortable and safe, without suffering pain and cramps. We need a medication that targets the malfunction of his nerve cells, so his brain and body can rest from the seizures and maybe even develope some new abilities. Jakob is the bravest and sweetest little guy. We hope, there will be more possibilities to help him some day.