“I would give anything to find a cure”
Gayle Fowler, 43, from Cheshire, explains why the fantastic work and research carried out by Reverse Rett is so important to her family
My daughter, Ciara, was born in September 2009 following a textbook pregnancy. There were no complications and when we left the hospital everything seemed fantastic – my husband Neil and I felt we had our perfect little family.
However, when Ciara was about six months old, we started noticing she wasn’t hitting her developmental milestones. She wasn’t rolling over on to her front and didn’t show any interest in toys. She also began to withdraw – becoming less likely to make eye contact or smile, and wouldn’t use her hands to pick things up. As she got older she also began grinding her teeth and struggling with her food.
Although Ciara was our second child and we had that bit more experience, we could always find a reason or excuse to explain her late development and reassure ourselves she would soon catch up. However, as time went on and the health visitor became increasingly concerned, we knew something wasn’t right.
When Ciara was ten months old, our health visitor referred us for an appointment with a consultant paediatrician at the Countess of Chester Hospital, who started testing for health conditions including cerebral palsy and autism. Ciara had blood tests, an MRI scan, a CT scan and a muscle biopsy, however everything came back clear.
At the end of many months of testing, Ciara’s paediatrician referred us to a consultant geneticist. After so many false starts I didn’t think it would be a particularly important appointment, however as soon as the geneticist saw Ciara he noticed the wringing of her hands, the lack of eye contact and that she had cold feet. He told me they were all symptoms typical of Rett syndrome, which is a rare neurological disorder that causes severe physical and communication disabilities – and he would like to test for that.
I remember coming out and knowing in my heart of hearts something was different about that appointment, but although we had never heard of Rett syndrome, my husband and I decided not to look it up the on the internet. We had done that with every condition Ciara had been tested for and always got ourselves upset thinking the worst.
A week later, the day before Ciara’s second birthday, her geneticist called and told us she had tested positive for Rett syndrome. We immediately Googled the condition and the bottom just dropped out of our world. We began to understand that Ciara’s life and health were never going to improve and there would be no miraculous recovery.
In many ways, Ciara is still like a newborn and requires help with everything. She can move her legs and arms but can’t sit up unaided, walk or use her hands, plus she is non-verbal. Ciara also has a partial collapse on her right lung, has epilepsy, and began having recurrent chest infections at 18 months old.
We know Ciara’s situation is only likely to get worse as she gets older, as there is currently no treatment or medication to cure it. As her body grows, gravity will work against her so she could end up with scoliosis – a curvature of the spine – and may end up having to be tube fed. It is also a life-limiting condition, and there is a high rate of sudden deaths caused by breathing abnormalities and side effects of the condition.
Ciara’s condition severely affects her quality of life as she is unable to do many things. She loves spending time with her brother and sister, Sophia, three, and Michael, ten – who are both amazing with her – however she is unable to join in with the majority of the things they like to do. It is also difficult to plan days out as a family as there are lots of practical things to consider, such as where we will eat – as Ciara has to have a blended diet – and whether there will be suitable changing facilities.
As a family, we try to make Ciara’s life the best it can be and make sure she is happy
– and she has a smile that lights up the room. She goes to a specialised school, which she loves, and she is currently doing work there with switches – where she can choose from a switch for yes and one for no – which will hopefully give her more choices. We are also looking into the Tobii Eye Gaze – which is a computer system where your eyes act as the mouse.
However, finding a cure is the only thing that will realistically make a difference to Ciara and girls like her and help them live the lives they should be living. As girls with Rett syndrome can’t communicate, people make the assumption they don’t understand anything, but tests have shown Ciara has no brain damage and we can tell from her trial with Tobii Eye Gaze, and by the way she laughs at the funny bits of her favourite TV shows, that actually she has a lot of comprehension and understanding – she just can’t express or communicate this. These girls are basically trapped inside their bodies – and that must be just horrific.
After coming across Reverse Rett following Ciara’s diagnosis, we have keenly followed its work and fundraised for the charity – and Neil has gone on to be on the Board of Trustees – as it has given us hope through its amazing research into a cure.
I would give up everything I have for a cure or a chance for Ciara to have a better life, and Reverse Rett gives me hope that it could be found.
THE FACTS – Reverse Rett
- Reverse Rett was founded in 2010 by a group of parents of daughters with Rett syndrome.
- It is a brutal neurological condition that strikes in early childhood, predominantly affecting little girls. The worldwide prevalence of Rett is estimated at one in 10,000 females.
- Rett deprives children of speech, normal movement and functional hand use, and disrupts breathing, digestion and other functions of the autonomic nervous system.
- Many children rely on feeding tubes and are wheelchair bound. Most face a life of total dependency, requiring 24-hour-a-day care.
- In 2007 research showed the total reversal of full-blown symptoms in mature Rett mouse models. This suggests Rett, and other neurological disorders, may be treatable.
- Visit reverserett.org.uk
BIG GIVE UPDATE
The £162,808 raised by Reverse Rett will help bring to the market a new drug, NLX-101, which they are developing to treat breathing abnormalities in people with Rett syndrome. The drug may also improve other core symptoms, including anxiety and movement disorders.