Evelyn’s
Story
Evelyn is currently 15 months old and lives in the UK. Evelyn’s mother, Claire, writes that Evelyn’s such a happy baby who loves cuddles and kisses and, most importantly, Daniel Tiger. No one makes her smile more than he does! Her perseverance is her greatest strength. Evelyn tries hard all of the time. She always does her best with her physio, eats well, and can feed herself milk through a sippy cup. She enjoys her food and tummy time! She likes playing with her brother and sister. Her older sister makes her laugh a lot!
Variant: V1393M
Gain of Function, de novo
History
Evelyn met all of her developmental milestones up until she was 7 months old. At that time, she had her very first seizure. At 8 months old, she was diagnosed with early-onset epilepsy with a possible movement disorder. By 9 months old, Evelyn’s family realized that her development was no longer typically progressing. Because she also presents with jerkiness, her neurologist believed she probably had a movement disorder. She couldn't keep still at all. She also has paroxysmal tonic upgaze (PTU). At 14 months old, Evelyn received a diagnosis of a CACNA1A pathogenic mutation.
Evelyn has experienced multiple status epilepticus episodes (when a seizure lasts more than 5 minutes or when seizures occur very close together and the person doesn't recover consciousness between them.) Midazolam (an emergency treatment to stop seizures) has never worked for her, so she would often seize for hours. One of her emergency hospital admissions required ventilation, and she was still seizing on a ventilator. After her ventilation, she was in intensive care; due to this, the doctors rushed through genome testing after other genetic tests came back with normal findings. At the time, her EEG was normal, an MRI was normal, and a CT was normal. It took one month to receive the genetic testing results back with the CACNA1A diagnosis.
Currently, Evelyn is unable to sit up completely independently, but she is getting stronger by the day. In fact, she can sit up for a good few minutes unaided and does well kneeling. Evelyn has never crawled but rolls really well and enjoys her tummy time. She has recently started babbling, and while it’s not intelligible, she’s doing more and more each day, has discovered new squeals and sounds, and is engaging more. Claire exclaims, “We love seeing her little personality shine!”
Therapies
Evelyn’s family opted for private physio after the National Health Service (NHS) took too long to offer an appointment. Her therapist is amazing. They are also waiting for occupational therapy and the speech and language therapy team (SALT) to get involved.
Evelyn is also under PORTAGE* for help with learning and play.
Portage is an early learning support service for pre-school children in the UK who have complex developmental needs and their families. The Portage Service visits children and their families at home and runs groups to support children's development and socialization.
Medications
Evelyn takes Keppra (2.3 ml twice a day) for epilepsy. Clobazam (3 ml/day) has helped a lot with her PTU and jerking, which has been amazing. Paraldehyde has worked wonders as a rescue med.
For those newly diagnosed
Take some time after diagnosis to digest it. We kept it to ourselves for a few days just so we could come to terms with everything as a family. Then do your research. There's a lot you aren't told about this condition and a lot you can learn about different variants. Get clued up on hemiplegic migraines and email the amazing people at the Foundation to have a chat with you. As rare as this is, there's so much support out there if you have a good look at Google and Facebook groups!
