Leano

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Our son Leano was born in January 2023 after a normal pregnancy. Leano is our second son. Our first son who was born in 2021 is completely healthy.

We received the diagnosis of the gene mutation when Leano was 7 months old.

Until he was 4 months old, he developed  and acted like a healthy baby and nobody, not even our doctor noticed anything strange.

Suddenly in May 2023 he became seizures every time after waking up. We have been already in sum 12 weeks at the hospital and they tried several medication ( for example Cortison and Vigabatrin or Topiramat which helped him to be 4 weeks seizure free but then the seizures came back). Then the doctors made a genetic test and found out that he has the CACNA1E gene mutation (de novo), which means that it is a completely new gene mutation which has no relevance for our first son.

Unfortunately under all the medication we tried , he suddenly lost several milestones he already achieved, like smiling and he couldn’t held his head up any more.

In July 2023 we started the ketogenic diet and we had the feeling that it helped him as the seizures reduced from day to day. But unfortunately he had still 20-25 seizures per day. Most of the seizures had a duration over 10 minutes so we had to give him a special drug (emergency medication) to stop the seizures as they didn’t stop by themselves.

In August 2023 we had another appointment with our doctors in Tübingen and finally they found a medication which makes Leano seizure free. Since he is seizure free he is finally developing slowly.

We love that he is a happy baby again who loves to smile and laugh like he did when he was 4 months old.

Furthermore he learned again to held his head up and currently we are practising to sit and trying to stand up.
We couldn’t be happier to have him in our life.