Laura has Batten disease, a very rare neurodegenerative disease. Children are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. Thecondition affects approximately 200 – 250 children in the UK with at least 10 new children being diagnosed each year. Laura’s mum Ellen explains how juvenile Batten disease has changed their lives.
“Laura is a bright, beautiful, kind girl who is fiercely independent. She’s everything I could ever have hoped for in a daughter.
When Laura was six years old we noticed that she was holding books closer to her eyes and was edging nearer to the television. We took Laura for a check up at the opticians, which lead to a visit to our local hospital and an initial diagnosis of bilateral macular dystrophy. We were told this would mean a slight decline in her vision which would then stabilise for many years with partial vision. We were told it might be another 10 to 20 years before Laura would suffer any further decline.
We re-organised our home and Laura’s schooling to adapt to Laura’s partial sight. But 18 months later she had no useful vision left at all. We changed everything again and started home-schooling Laura. She began achieving more than we could have ever expected and we believed Laura would live a very fulfilling life as a blind person.
One day Laura had an epileptic fit but we were told that it was not related to her vision, that it was very common for children to have one-off seizures.
In the November of that year I made an appointment for Laura to see a leading consultant at Moorfields Eye Hospital. I nearly didn’t mention the epileptic seizure that Laura had suffered 18 months earlier as I had almost entirely dismissed this from my mind.
At the mention of the epileptic seizure the consultant’s demeanour changed and in that instant I knew that we were facing the worst sort of news. He made an immediate appointment with the Paediatric Neurologist upstairs and I was offered a quiet room and a cup of tea. I could not stop the tears flowing, though I tried to shield my dismay from Laura. Laura needed a blood sample and we had a wait of six weeks before we got the result. My husband David and I travelled back alone to the hospital in January 2009 and were given the diagnosis of juvenile Batten disease. Laura was nine years old.”
“Life before Batten disease seems like a different world to me now. Every aspect of our family life has changed. Almost every day involves heartache of some sort. The unrelenting pain of this situation has definitely taken its toll on us. On the more positive side, we have all become much better at handling this constant pressure. One of my favourite quotes is, ‘Life shouldn’t be spent waiting for the storm to pass, but learning to dance in the rain’. We are now very good at recognising and seizing every opportunity to dance!
When we explained Batten disease to Laura we described it as her ‘naughty gene’ and she knows that it is this naughty gene that has taken away her eyesight, which causes her to have epileptic seizures and makes her clumsy and forgetful.
Laura is still exactly the same person. Her circumstances continue to become increasingly difficult as this cruel disease closes more and more doors for her. The exclusion she encounters every day is heart breaking. She does cry quite often, especially when facing rejection. Having said that, I could not be more proud of Laura for the way she copes. She never complains and always makes the very most of any opportunity she is given.”
Living with Batten disease today
“Laura now spends her week away at school in Worcester but when she is home she enjoys listening to audio books, re-enacting these books and playing cards or walking the dog. When Laura is at home I spend all my time caring for her. It’s relentless and exhausting and trying to find meaningful activities to fill Laura’s day is one of my biggest challenges.
My hope is that in my lifetime, we will find a cure for Batten disease in order to save other children from suffering like my own daughter has. I am really grateful to Sparks for funding a research project that looks at therapies to treat juvenile Batten disease. This project offers real hope of moving us significantly closer to finding an effective treatment. Sparks’ research into Batten disease is inspiring and we really believe it can make a difference and provide the hope that is needed for children like Laura.”
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