☆ Remi (2019-2021) ☆

CACNA1E p.L228p c.683 T>C

Remi entered the world on the 11th June 2019 at the Royal Victoria Hospital Belfast Northern Ireland after a uncomplicated pregnancy and birth. She passed all her newborn checks and we got home. I noticed over time Remi had a very sensitive startle reflex or that was what I thought, we later discovered they where epileptic jerks (Myoclonic). At 14 weeks old I noticed she wasn't fixing and following or trying to sit up so we where referred to an eye specialist who completed a lot of checks which confirmed her eyesight was poor (which they gave her glasses for to try and help) and she wasn't fixing and following. They told me that the problem wasn't her eyes but with signals coming from the brain. An urgent referral was submitted and we were back to see a consultant who completed an EEG which showed a lot of epileptic activity and she was started on Keppra. In January 2020 it was suggested Remi was admitted for a lot of tests to determine the cause. MRIs and various tests all came back clear. It was then a genetic doctor came to see Remi, took bloods and photographs etc, and said they would need to go away for testing. Because of covid a lot of testing stopped so it wasn't until January 2021 that we got the call to say Remi had tested positive for CACNA1E p.L228p c.683 T>C. Remi had no head, neck or trunk control, she was tube fed, very poor sight, required oxygen when sats dropped and also required suctioning due to so much secretions. Remi started to get chest infections which became more regular and harder to shift when eventually in October 2021 she contracted Pseudomonas which she couldn't shift. We made the decision to move her to our local Childrens Hospice which was a home from home for us and Remi as she would have had her respite holidays there. We spent 5 wonderful days as a family laughing, playing, cuddling and making memories. Remi gained her wings on the 14th November with myself and her daddy by her side. Remi was the most laid back child with the curliest hair who didn't often smile but when she did it lit up a room. She was my sticking plaster and she taught me so much about myself on our journey together. We where blessed to have had her and she lives on in our lives everyday ❤⭐