By the time Effie was born, Paul and I had been together for ten years and married for three. We’d started to wonder if we’d ever be parents, so as you can imagine, we felt like the luckiest people alive when Effie came along in 2010. Effie was healthy in every way. Those first few years were magical, Effie had biggest smile and an infectious giggle.
In early 2013, out of the blue, Effie started to have small seizures – absences, drops and little twitches. We started on epilepsy medication, but then unthinkable happened. The day before Effie’s third birthday, Effie woke up, bright and early, jumped out of bed and collapsed to the floor. She had lost the ability to walk, overnight. Her birthday present, her little yellow bike with cupcakes on, remained wrapped up in the shed. Effie never unwrapped it.
Then Effie started to develop dementia. We’d go out for the day and she would completely forget where we’d been by the time we got home. She could no longer count, remember shapes, colours, her friend’s names. It was in November, when I was pregnant with Effie’s brother, George, that we were told Effie would be tested for Batten Disease. “It won’t be that”, the consultant said. “only five children a year are diagnosed in the UK.”. When Effie’s test came back positive, we had to acknowledge that Effie’s future wouldn’t just be different from her peers’; she would not have one at all.
Our neurologist gave us the diagnosis in his hospital clinic, then left us to go home alone. There was no follow-on support, we went home with a Batten Disease fact sheet and advised to find our local hospice. We knew that this disease would rob her of every skill she’d developed, and those she’d been born with, until she couldn’t even see or swallow. It would then take her life.
We were on our own, but we were fortunate to find Together for Short Lives and ordered all their fact sheets. We weren’t ready to talk to anyone, but Together for Short Lives helped us to find our nearest hospice – East Anglia’s Children’s Hospices – for when we were ready to take that step.
We also found out that we were not alone. We were one of 49,000 families about to embark on the hardest of journeys. We vowed to do our best for Effie and give her the best quality of life we could.Carly
Effie needed round the clock care, so we were both physically and emotionally exhausted. Effie rarely slept through the night and the stress and anxiety of knowing we didn’t have long left with our daughter made life extremely difficult. We grabbed sleep wherever we could, and simply didn’t have the energy for socialising. As the disease progressed, Effie needed 52 doses of medicine per day, two nebulisers, four tube feeds, and three sessions of chest physio. It became almost impossible to arrange to do anything, other than be at home, caring for my beautiful girl.
Over the coming months, Effie became paralysed, tube-fed, on oxygen and lost her sight. There were to be no more playdates at the park. It was heartbreaking for us to seeing Effie’s healthy friends, doing the things our little girl should be doing.
Together for Short Lives was there for us, when we felt lost. They were there to listen, to help find the care that was right for Effie and our family and connecting us with other families.
My Effie passed away in February 2017. She was just six years old. The continuous flow of health professionals we saw on a weekly, if not daily, basis and had shared our journey for so long, simply stopped. Our house fell silent. It took months for us to get used to being able to leave the house. I started to be able to take my son to nursery for the first time and he’s had playdates of his own. We have slowly integrated back into society but never take the ability to leave the house for granted.
Every day, families like ours have to face the heart-breaking news that their child will die young. Together for Short Lives was there for us, when we felt lost. They were there to listen, to help find the care that was right for Effie and our family and connecting us with other families through their safe online forum. It helped us feel less isolated and alone. Having Together for Short Lives’ support was priceless.