From Elena’s Mother

Elena was born healthy on 2/7/02. A very much cherished daughter after 2 brothers. Just before her 1st birthday, I noticed that her development started to slow, and then started to loose skills she had gained. She no longer was able to hold a bottle or eat finger food by herself, babble, sit up or stand up holding on to furniture. Started to to become floppy, aspiration and reflux started to become a problem. I started to become very concerned, so tests started to find a cause. I knew by then, it was going to be serious, as children don’t normally degenerate due to simple reasons. At 16 months old, she was diagnosed with gm1 gangliosidosis type 2. Our world felt part but we then understood what, and why she was degenerateing.
By the age of 2, she could no longer smile, giggle and lost eye contact. Scoliosis started to affect her spine. This was heart breaking. Seizures and dystopia become part of her, and our everyday lives. We were told her life expectancy was 5 years old and she would soon loose the ability to swallow and need tube feeding. Amazingly, she didn’t start to loose her swallow reflex until the last 6 months. I became intently in tune with her on a instinctive level I never knew possible. After quite a healthy life with a few chest infections, she eventually needed to be fed via a NG tube in September 2007. This was the beginning of the end. Her health started to deteriorate, and eventually, one night, she aspirated milk into her lungs and was in hospital for a week, seriously ill, then got transferred to a hospice for end of life care. After dedicated care, and a fight for life, we took her back home after 6 weeks. She seemed to get back to where she was before, coming off the oxygen. Then, in February, she fought another serious chest infection. How she pulled through, I still don’t know. But she never seemed to recover and needed oxygen 24 hours from then on. In April, it seemed that the life force started to leave her and on 5/4/08 aged 5 and 9 months old, she finally gave up the fight for life, and passed away peacefully, surrounded by me, her dad and her 2 adoring brothers in a hospice.
Her brain had eventually been devastated by this horrendous disease, she lost everything possible. Blind, deaf, but hopefully not even able to feel pain anymore. She was sadly left an empty shell…. nothing left.
But I truly believe she knew her loving family were around her and felt the love from our cuddles and kisses.
Elena taught me more about myself and life I ever thought possible, I never wanted to loose her, but my life, and her family, have learnt so much from her short life and our lives have truly been enriched by loving and caring for her.
Rest In Peace my beautiful Elena.