Hjalmar (2023)

CACNA1E c.2104G>A p.Ala702Thr

Our Hjalmar was born in 2023 - 4,600 grams of pure love, with the sweetest and most crooked little feet we had ever seen (Hjalmar was born with clubfoot, PEVA). We found out about his PEVA during an ultrasound, but when he was born, we also discovered that he had some abnormalities in certain fingers. He was quickly referred for further evaluation for arthrogryposis, which was confirmed in September.

Hjalmar was also delayed in his development, and we soon noticed that something wasn’t quite right. At four months old, he started making strange movements with his arms, and after a long process of tests and uncertainty, we learned that he had epilepsy and infantile spasms. His seizures were terrible, but after a few weeks, the treatment started working. That gave us hope, but in November 2023, we received the devastating news that Hjalmar has the Cacna1e mutation, and our world fell apart.

BUT, Hjalmar came to us for a reason. It is so clear to us now that he was meant to be with us. He teaches us something new every day, and he is the strongest and bravest little human we know. The funny thing is that his name actually means "Warrior" in Swedish, which we didn’t know at first. He is such a loving boy who spreads joy, hope, and calm to everyone he meets. And even though he cannot speak, his eyes and his soul speaks more than words.

We are so proud of him. And we are so grateful to have found this community and all of you other incredible fighters - what an amazing job you all do. Together, we are strong. ❤️