Mesmerised by her birthday presents, two-year-old Effie was still opening them three days later. She didn’t want to tear off the paper and rush through the pile of gifts. She wanted to savour every present, playing with each toy for hours, only moving on to the next with our gentle encouragement.
That was Effie. She was so thoughtful and sweet. She’d sooner hand her birthday presents out among friends than keep anything to herself. I used to watch her at the playground before I picked her up from the nursery. She was like a mother hen, making sure all her friends were happy, loved and having fun.
It was Christmas 2012, the year she was able to learn some Christmas songs. It was always my favourite time of year and as my daughter was old enough to enjoy it too, we were having a ball getting caught up in the magic of it all.
It breaks my heart to think of that Christmas, especially because everything seemed so perfect. I used to work for a pharmaceutical company, but after Effie was born, I took time off. I knew I’d only have one chance to spend those early years with her and I wanted to make them count.
We’d pitch a tent in the garden and read stories. Her favourite was What the Ladybird Heard, because she liked to make the noises of all the animals in the story. We’d walk through Charnwood Forest near our home, Effie always insisting on carrying the biggest stick she could find in one hand, and holding my hand with the other. She’d natter away, telling me stories about all her animal friends in the woods, enchanting me with her imagination.
Effie was two and a half when she had her first seizure. She’d been grisly that day and I wondered if she had a cold coming. My husband Paul, 38, was with her while she had a bath, and I was getting her pyjamas ready. Suddenly, Paul shouted for me and Effie started screaming. She’d been happily playing with her toys but had lost consciousness for just a second. Flopping forward, Paul had caught her before her head hit the water. It had scared her and that night, she slept in our bed.
The following morning I took Effie to the doctor. The clinic suggested she see a paediatrician within six weeks and we returned home. But then she had another seizure. And another at the kitchen table. And another in the local shop.
Scared and worried, I rang the emergency hotline. ‘We’ll send an ambulance,’ they said.
Then, I began to panic.
By the end of the week, Effie was having 10 seizures a day. MRIs and EEGs came back clear. But we filmed the seizures and as the doctors watched our footage, they diagnosed it as epilepsy.
Sometimes she’d crash to the floor, other times it would be a myoclonic jerk of an arm or leg, like when you’re falling asleep and a limb spontaneously twitches. Each time it scared Effie. It scared us all. She was confused and didn’t know what was happening – none of us did.
For months I had to follow her around everywhere she went, holding on to her in case she dropped to the floor. She never complained; it was like she knew I was keeping her safe.
Epilepsy medicine helped a bit. It would hold off the seizures for a few weeks, then they’d come right back. Then the doctors would increase the dosage, but the cycle kept repeating itself.
Then, Effie started to regress. The bright, shining star we loved was burning out.
The day before her third birthday, in June 2013, we found that she was struggling to walk. Her legs appeared to be giving away under her. At first, Effie would get frustrated but she was brave and never complained. Some days, with medication changes, she could walk a little bit. She was so excited. ‘Look Mummy, I’m running!’ she’d say. But we soon realised that she was losing her ability to walk.
It amazed me to see Effie quickly treating this as the norm, and comprehending that being able to walk was a special gift.
On days when she didn’t have the strength to stand, I’d distract her, go to the cinema, swim, or read stories in bed.
We bought her a bright yellow bike with cupcakes on it, but realised she’d never be able to ride it, so we hid it and bought her different presents. It remained wrapped up in the shed until we moved house. She was in hospital for her birthday and by the time she came home, we’d arranged more appropriate presents – sensory toys she could play with in her lap. She loved them all and, not knowing what she was missing, was so happy.
‘Our baby will never ride a bike,’ I cried to Paul as we packed up the bike and gave it away. But Paul wanted to do everything possible to make Effie smile. He got a wheelchair bike so that he could still take her out for rides.
But there were more shocks in store for us. One day, we found Effie’s memory growing fuzzy.
‘What did you do at playgroup today?’ I’d ask, but was met with a blank stare instead of her usual chatty self.
‘Did you paint?’
‘Yes,’ Effie would mumble, her brow furrowed. But her teachers would tell me there was no painting that day. Effie seemed scared of the memory lapses, her usual chatty self silenced.
Paul would point at a banana, her favourite food, and she no longer knew what it was. Shapes, animals, colours, numbers… it was all there, then it was gone. Paul and I were devastated but determined. Worried it was more than just epilepsy, we pushed for more tests.
Effie started to stammer and stutter, then gradually her speech went too. Sometimes she couldn’t find the words she was looking for, other times she went quiet and didn’t even try to speak. I took photos of different foods, drinks, toys, the sofa, the wheelchair bike, her bed. I printed them all so when she was trying to tell me something but couldn’t, so she could point at what she wanted.
Because Effie’s faculties were disappearing, she didn’t have it in her to get frustrated or know what she was losing, which was, in a way, a relief. I didn’t want Effie to know what was happening.
I was heavily pregnant with our second child when the doctors told us they were going to test Effie for Batten disease in November 2013.
‘It won’t be Batten disease,’ the consultant said. ‘Only five children a year are diagnosed with it in the UK. Don’t go home and Google it.’
But of course we did. I learnt that it was a fatal, neurodegenerative disease, which would in time leave Effie blind, bedridden and suffering full-blown dementia. Children with Batten are missing an enzyme that removes waste products from the brain, so brain cells die and become toxic. There was no treatment or cure and life expectancy was five to 12 years.
It was horrific. And the worst part was that Effie fitted the description. The seizures, loss of the ability to walk, speech, memory.
It was too awful to contemplate, so we refused to believe it could be happening to our little girl. There were times when I just wanted a cuddle and a cry, and Paul was there to be the strong one. But other times, we reversed our roles.
That Christmas, Effie was the centre of attention. She had started to lose control of her hands, so we wrapped her presents in tissue paper to make them easier to open.
When George was six weeks old, our worst fears were realised. On January 23, 2014, Effie was diagnosed with late infantile Batten disease. It meant that her brain was breaking down and dissolving, cell by cell. It would cause her to gradually lose all her skills. Her heart rate would become irregular, her temperature would fluctuate and she won’t even be able to cough. Many Batten children are lost to pneumonia.
As the consultant gave us the news, I looked over at Effie, who was playing with a nurse. She had a huge smile on her face and was introducing her to her baby brother. I felt numb. Effie still had her sparkle, yet we were being told that things were only going to get worse. It made the diagnosis even harsher. She was still our Effie, but now with a life sentence.
Paul was completely crushed. ‘It’s my job to keep my children safe,’ he said, his head in his hands. ‘But it’s been taken away from me.’ I knew his heart was breaking into a thousand pieces, but he coped by focusing on what we could do for Effie. When she lost the ability to walk, we took her to a theme park.
‘Effie would want to go on the biggest slide,’ he said, scooping her up over his shoulders and carrying her over 100 steps to get to the top. He’s the one who takes her out in the wheelchair bike. He redesigned the garden and did all the manual labour himself, so it would be accessible. Effie always loved the garden and his work meant we could spend lots of time out there. He did everything possible to make her smile.
It could have felt like a lonely time, but we had incredible support. Our friends took turns to bring around home-made dinners. My mum came to live with us so she could be with us every day. Paul’s parents came every weekend to support us. We felt so unlucky, yet, so lucky.
I ensure that George spends as much time with his sister as possible so he remembers how much he loved her and the fun they had.
Effie is six now. The ability to absorb food went first; her epilepsy medicines wouldn’t work and she’d have a seizure that she wouldn’t come out of. She lost the ability to swallow in February this year and is now fed through a tube. She’s going blind. She often screams for up to 12 hours straight and we don’t know why.
George was tested and he doesn’t have Batten. But he does have a big sister, for now. So we make sure that the focus is on building memories of them together.
When Effie’s at school, George pines for her continuously, sitting on her bed until she’s home. He cries when we drop her off at school and as he knows Effie can’t grasp her toys anymore, as soon as she’s home he goes to find her favourite toy, a giraffe, and puts it on her lap. He loves to grab hold of Effie’s hands and pretend to dance with her. These are the things I’ll be telling George one day.
We don’t know how long Effie has left. She’s still an adventurer, so friends fundraised for us to take her to theme parks. We were donated a modified wheelchair with a bike at the back so Paul could take Effie out cycling. We still read stories in a tent in the garden, listen to her favourite music while she’s on her favourite swing. She’s changed so much, yet still loves the same old things and if this whole experience has taught me anything, it’s that all that matters in life is happy memories.
We make sure every day counts. If we see a present we think she’ll like, we buy it and give it to her.
I film Effie all the time. The footage can be comforting or torturous, depending on how I’m feeling. But I still do it. One day Effie will be gone and we’ll grieve then. For now, we’re capturing as many memories as we can of our bright little star.
Carly Hadman, 34, is from Peterborough, UK, where she lives with husband Paul and their children Effie and George.