‘ My daughters are changing the world’
Gail Rich’s daughters, Nicole and Jessica, both have an incurable genetic disorder, but they’re also giving hope to thousands…
‘Watching my daughters play princesses on the floor, for a moment I feel like every other mum. Then I remember that I’m not because my little girls are special.
Two years ago, my husband, Matthew, and I found out that both our girls, Nicole and Jessica, have the neurodegenerative disorder Batten disease. It’s a heartbreaking, cruel disease that eventually means they’ll lose their sight, and ability to walk, swallow and pick things up. In time, they’ll suffer all the symptoms of dementia.
Our world turned upside down. But we now have hope because Jessica is in a pioneering clinical trial that could slow or even halt the devastating symptoms, while Nicole is receiving treatment that is continuously improving her life. We truly believe that our brave girls are making miracles happen.
From an early age, I wanted to be a mum. After I met Matthew, now 30, in a pub in Newcastle in 2007, we couldn’t wait to start a family. Our son, Louis, was born in 2010, and was so talkative as a toddler that when Nicole, now five, was born, we thought she’d be a chatterbox, too. But, by two, she hadn’t uttered a word.
Nicole also had a short attention span, and if you tried to read her a story, she’d flick through the pages and sprint off. When Matthew and I married in February 2014, Louis was our ring bearer and Nicole was our beautiful flower girl, running around with the biggest smile on her face.
When Nicole started nursery, teachers struggled to engage her, and speech and language therapy got nowhere.
A paediatrician diagnosed global developmental delay, which meant she was behind in everything, but we tried to remain positive.
Nicole had her first seizure when she was three, in 2015 when I was pregnant with Jessica. Sitting beside me on the sofa, her leg twitched, her body stiffened and her lips turned blue. It was terrifying.
An ambulance rushed her to hospital, where an ECG (electrocardiogram) confirmed Nicole had epilepsy. Doctors said there was a link between Nicole’s lack of speech, small size, epilepsy and developmental delay. More tests followed.
‘If she’s delayed, she’ll catch up,’ we reasoned. ‘If she’s small, she’s small. There’s medication for epilepsy. We can handle this.’
Jessica was born in September 2015 and, during the next year, Nicole kept deteriorating. She became wobbly and unsteady, losing her adventurous confidence. Matthew started carrying her everywhere.
In September 2016, we were invited to the Royal Victoria Infirmary, Newcastle, for some test results. As we
stepped into the doctor’s room, the consultant neurologist and a nurse were waiting for us. My heart sank.
‘Nicole has Batten disease,’ the neurologist said. He explained that it was an incurable genetic disorder.
‘ What’s her life expectancy?’ I stuttered. Gently, the neurologist told us that Nicole wouldn’t be expected to live into her teens. We stumbled out in tears, unable to fathom this horrendous news.
Back home, Nicole played happily with her toys, oblivious to what awaited her. We were heartbroken.
Breaking the news to Louis, then five, I was bowled over by his bravery. ‘Nicole’s brain is missing an enzyme to make it run smoothly. One day, she’ll need a wheelchair,’ I told him.
Louis looked lost in thought, then he said, ‘Can I push her? I’ll be Chief Pusher! Let’s put fighter jets into Nicole’s head to blast the naughty away.’
He gave us strength when we felt weak. Despite our feelings of hopelessness, the Batten Disease Family Association (BDFA) informed us that researchers had developed a synthetic enzyme that could be funnelled into a patient’s brain to slow the onset of symptoms. Louis was on to something when he said we should put fighter jets in Nicole’s brain!
A pioneering clinical trial in five countries, including the UK, had been successful, and the BDFA had worked with several families to persuade the pharmaceutical company concerned to treat five more children at Great Ormond Street Hospital. Incredibly, after an assessment, Nicole was selected for one of the places. It was extraordinarily lucky, an opportunity that we wouldn’t have had if it wasn’t for the support of the BDFA. We owe them so much.
Meanwhile, we had to think about Jessica. We knew Louis would have shown symptoms by now if he had the disease, but Jessica was so young we didn’t know if she had it, too.
Everyone told us not to worry. Jessica would lead the life Nicole couldn’t. But, on 6 December 2016, tests revealed Jessica had Batten disease, too. My heart ached with pain. She wouldn’t be living her life for her sister, she’d be living with the same death sentence. Devastated, we frantically emailed doctors around the world asking if Jessica could receive the same treatment as Nicole. Amazingly, a hospital in Hamburg, Germany, reduced their age limit for a sibling trial specially for Jessica.
In December 2016, Nicole’s treatment began. Months later, she was responding well and we were delighted.
In May 2017, Jessica visited Hamburg for her first treatment. Since then, every two weeks, Nicole goes to Great Ormond Street and Jessica goes to Germany. The procedure takes four hours, and they are both so patient.
Jessica doesn’t know it, but the success of her treatment could give hope to thousands of families coping with Batten and similar conditions. She is the youngest child to receive the treatment, and we are all watching with bated breath. If it continues to work, could she – and thousands like her – avoid death itself ?
Nicole is doing incredibly, too. While she can’t be cured, she’s calmer and more alert. She’s a daredevil who loves the film Brave – apt, isn’t it?
We are waiting to hear if the NHS will fund Nicole’s continued treatment and, if they don’t, we might need to move to Germany. But we remain positive.
Now, at 40, I’m inspired by my amazing children every day. Sometimes I cry, but then I remind myself to be as brave as Louis, Nicole and Jessica.
We don’t know what the future holds, but we’re concentrating on living for the right now.’