“We’re praying for a cure”
Louise Wainwright, a mum-of-three from Loughborough, tells us how Reverse Rett has given her family hope for the future
“Nothing can prepare you for the news that your child has a life-limiting condition. All your expectations, hopes and dreams you have for them dissolve and you feel almost hopeless with hundreds of questions flying round your head. My husband, David, and I had known something wasn’t quite right with our daughter Georgia for some time – we thought it was more than just a developmental delay, but nothing as life-changing as Rett syndrome.
Georgia learnt to sit up and crawl like any other child, but by 18 months, she wasn’t showing any signs of pulling herself up and could bear weight only if she was supported. The health visitor and doctor told us this was because she’d been born prematurely – by one month – and she would catch up in time. But by the time Georgia was nearly two and still couldn’t pull herself up, we were convinced something was wrong and began to pushfor answers. A community paediatrician at Leicester Royal Infirmary suggested an MRI scan might help to identify why Georgia had signs of developmental delay. He also referred us back to the neonatal consultant who had cared for her when she was born. He explained that as I’d had an uneventful pregnancy and a quick labour, there was no reason to believe that Georgia had been starved of oxygen or that any problems might have arisen from her birth. He suggested that along with the MRI scan, Georgia have some genetic testing.
Various tests followed, but it wasn’t until Georgia was almost four years old that we found out she had Rett syndrome.
I’d heard of Rett’s before because somebody I had once worked with had a daughter with the condition. I didn’t know much about it other than it was a degenerative illness and very bleak news for our little girl. We were absolutely devastated and I just broke down and sobbed. We were worried for our second child, Phoebe, who was then only 17 months old, but thankfully it’s extremely rare for sisters both to have Rett’s. After the initial shock wore off, I decided to find answers to all the questions that were keeping me awake at night and contacted the lady I had worked with. She invited me to visit her and her 19-year-old daughter. It helped to talk to someone who had faced the same heartache and who was coping well. She also put me in touch with another family whose daughter had Rett’s and was nearer to Georgia’s age. It was they who told us about the charity Reverse Rett –which is working on treatments and a cure for Rett syndrome.
I visited its website, which was extremely comprehensive, and found so many answers there. The staff are very approachable and have introduced us to other parents in similar circumstances. We’ve also joined a social media group which enables us to keep in touch with families nationwide to share news and advice and offer support where needed.
Georgia has been in a wheelchair since she was three and goes to Ashmount School in Loughborough – a special school with amazing facilities including a heated swimming pool, soft play and art, music and cookery rooms. She loves it there and has a best friend, Finlay, whom she’s known since they were both 18 months old. Although neither of them can talk, they are able to communicate in their own way and the bond they have is wonderful. Georgia is also very close to her sister, Phoebe, and her little brother, Liam – both of whom are so caring towards her.
At the moment, Georgia is healthy, she’s not on any medication and hasn’t developed epilepsy, a common side effect of the condition. She’s spoon-fed but has a good appetite – her problems are more to do with mobility: her spine is straight but she has muscle weakness down her left side, for which she has physiotherapy. Since Georgia was four, we’ve been helped by a charity in Warrington called Brainwave, which we visit annually. It creates physio plans for her in school and for the physio provided through the NHS. Currently it is focusing on strengthening her left side in order to prevent any curvature of the spine, which is common with Rett’s.
I work in cancer research as a laboratory manager and so I know how important funding for research is for any condition. David and I recently became regional ambassadors for Reverse Rett, and have a Facebook group to promote the charity locally at every given opportunity. David recently gave a talk at a school in Stafford and ran the half-marathon in Manchester with Andy Stevenson, one of Reverse Rett’s co-founders. The research into Rett syndrome, and finding a cure, is what drives us forward.
The charity has also produced a hospital passport – it’s free for registered members and is basically a booklet with information about your child and details of the common side effects of Rett’s. It’s invaluable because hospital visits can be very stressful and not all medical staff are familiar with Rett’s, so the passport provides them with vital information and saves worried parents having to explain or feel angst over the care given.
To David and me, Georgia’s just like any other little girl, and we’re very proud of her. There are times when we do worry for the future, but we know that Reverse Rett will be there for us when we’ll need it next. For now, we’ll continue to do as much as we can to support the charity to fund vital research to find a cure.
Total Raised £97,382
Rett syndrome is a neurological condition which most often strikes previously healthy little girls between their first and second birthday, leaving them with multiple disabilities and medical complexities for life.
The condition has a single genetic cause and is one of the only neurological disorders in the world to demonstrate dramatic symptom reversal in the lab.
One of every 10,000 to 15,000 infant girls will develop Rett syndrome. It affects all racial and ethnic groups worldwide. Rett syndrome is rarely seen in boys.
Research has shown that girls with Rett’s do not have brain damage. They know and understand much more than their bodies allow them to show – but they are locked in, trapped by a body that cannot obey signals from their brain.
Human clinical trials using gene therapy to cure Rett syndrome will begin in 2019. If successful, this will make Rett syndrome the very first neurological disorder to be cured.
For more information, visit reverserett.org.uk.
The £97,382 raised in The Candis Big Give has been used to help to fund the first UK clinical trial for Rett syndrome. The trial launched in March 2017 at King’s College Hospital in London and is looking at a new drug to help with breathing abnormalities. The trial is now at full capacity and if successful will lead to the first drug for Rett syndrome being made available.