Hill (2022)

CACNA1E p.(Ala702Val)

This is Hill. She was born in February 2022 after and normal pregnancy and birth. She is our third child and we live in southern Sweden. She was a healthy baby and the only thing that we noticed first was that she had a squint on both eyes. When she was 4 months old we noticed that she didn’t use her hands for grabbing like you are supposed to do in that age and a bit floppy in her muscles. When she was around 6 months she still didn’t use her hands and was delayed in many ways. The doctors started to examine her with blood tests, MRI etc. In March 2023 she started to have seizures and she did an EEG and was hospitalized right away. They diagnosed her with epilepsy, infantile spasm. She did answer well to the medicine and we could go home after two weeks at the hospital. Thankfully she hasn’t had any more seizures since April 2023.  The MRI came back clear and in May 2023 we got the answers for the genetic testing and she was diagnosed with CACNA1E (Ala702Val).

 Hill are squinting on both eyes, has visual impairment, low muscle tone, epilepsy and are developmentally delayed. She can't sit, stand or walk on her own but she has good muscle strength and are able to hold her head by herself, sit and stand with support. We have to feed her everything and she can’t speak but she will let you know if she’s happy or not. Hill needs a lot of support all of the time but still she is this happy little girl.