On September 18th 2021, it will be exactly 10 years since our daughter, Ciara, was diagnosed with having Rett Syndrome. The telephone call telling us of her diagnosis came the day before her 2^nd birthday, though we remember that day still as if it was yesterday. Sunday September 19th 2021 will be Ciara's 12th Birthday.

For those who don’t know Ciara’s story, she was born in September 2009. While Gayle was pregnant with Ciara there were no problems whatsoever and for the first 6-7 months of Ciara’s life everything appeared to be normal and there was no suspicion that anything was wrong. That was all about to change.

It was around this time that we started to notice that Ciara was not attaining her developmental milestones. One thing that stands out in our memory now is how whenever we'd walk in to a room, Ciara would never look to acknowledge us. In addition, she never developed the ability to crawl, she did not develop the ability to use her hands, either to play with toys or to feed herself and she showed no sign of beginning to develop speech.  Grinding of her teeth and becoming anxious/distressed for no apparent reason, were also typical of Ciara at that time.

It was following a routine appointment with a health visitor that a referral was then made to a Consultant Paediatrician at the local Countess of Chester Hospital. This was the start of what turned out to be 18 months of various clinical investigations, both at the Countess of Chester and Alder Hey Children’s Hospital, Liverpool. These investigations included numerous blood tests, X-rays, muscle biopsies, Ultrasound, CT & MRI scans, all of which failed to arrive at a diagnosis. Without a definite diagnosis, the term ‘Global Developmental Delay’ was the term given to label Ciara’s situation.

In addition to ruling out a number of better known conditions, the numerous investigations that Ciara underwent showed that structurally, there was nothing wrong with Ciara. But, as she approached her 2^nd birthday, she still couldn’t sit up unaided, couldn’t feed herself, couldn’t talk, couldn’t use her hands and had what felt like constant issues with her chest.

It was following a referral to a Consultant Geneticist at the Countess of Chester Hospital that we first heard the term, Rett Syndrome. At this point we just thought it was another condition that like many others was just to be ruled out by yet another blood test. How wrong we were!

Gayle was the one who took the phone call from the hospital while she was in work. Gayle, in tears, then phoned me at work…..Ciara had been diagnosed as having Rett Syndrome!

Prior to getting the news, we hadn’t dared look up what Rett Syndrome was on the internet. As soon as I got the phone call, that’s exactly what I did on a computer in a small office at work. What I read was sickening, to say the least. In that very moment, it felt like our lives had been ripped apart and that all the hopes and dreams that we had for Ciara and our family were in ruins.

Shortly after this time, we met face to face with the Geneticist. He told us in no uncertain terms how Ciara would never be able to live independently and that she would forever be wheelchair bound, would require constant 24 hour care and that her life expectancy would be drastically shortened. I can’t even begin to explain how we felt when hearing. I clearly remember wondering to myself during that meeting, whether it would be possible for Ciara to grow up dreaming of and then taking part in the Paralympics. We now know with Rett Syndrome, there is currently no chance.

Rett Syndrome (named after an Austrian Doctor, Andreas Rett) is a Neurological developmental disorder that is almost exclusively found in seemingly healthy girls. It is caused by a totally random genetic mutation at the point of conception. It is not hereditary and therefore can potentially affect any girl. From birth, girls will typically develop as normal for the first 6-18 months of their lives. During this time, their parents and families are often completely unaware of there being anything wrong.

With Rett Syndrome, developmental delay is common and girls will often go through a period of regression, where they lose skills that they had developed, such as crawling, walking, talking, feeding and use of their hands. Other typical problems associated with Rett Syndrome include breathing difficulties, eating/digestive problems, musculoskeletal problems (including spinal curvature (Scoliosis) and joint dislocation), incontinence, disrupted sleep patterns, seizures, impaired cardiovascular function and sudden unexplained death. It is often described as having the symptoms of Autism, Cerebral Palsy, Epilepsy, Parkinson's Disease and Anxiety Disorders all in one little girl.

When reading any literature about Rett Syndrome, it will be stated that 1 in every 10-12,000 girls will have Rett Syndrome. To help put this in to context, here are a few further facts about Rett Syndrome that will hopefully give some clarity:

·      Each and every day 18-20 girls are born with having Rett Syndrome (approx. 7000 per year)

·      Rett Syndrome is no less prevalent than better known conditions such as Cystic Fibrosis

·      Since Ciara was diagnosed, over 70,000 more girls will have been born with having Rett Syndrome

·      Since Ciara’s 11th Birthday in September last year, over 5000 girls with Rett Syndrome have been born, and as yet, their parents will have no idea.

Shortly after we were given Ciara’s diagnosis, a Consultant Paediatric Neurologist said to us, “If your daughter has to have any neurological condition, then Rett Syndrome is the one to have. It is the one most likely that a cure will be found for”. At that point in time we didn’t really take on board what he said and I probably thought, “Yeah right, whatever”. It would be a few months of many tears and sleepness nights before we would understand what he was referring to.

Once we began to come to terms with the shock of the diagnosis, I began to look in to what was, if anything, being done in the world of research that could lead to Rett Syndrome being effectively
treated or even cured. It wasn’t long before I came across the Website for the charity, Reverse Rett (then called Rett Syndrome Research Trust UK). It was here that I discovered what was going on in the world of research and that there was not just hope, but genuine reason to believe that Rett Syndrome will be cured.

In 1999 scientists had discovered that Rett Syndrome is a single gene disorder and they discovered exactly which gene was at fault (the MeCP2 gene). This gene has a crucial role in the control of overall brain function. The fact that it is a single gene disorder lends itself to the potential for discovering treatments and/or a cure. What really got my attention was that in 2007 scientists carried out an experiment using a mouse model and discovered that by replacing the missing proteins on the faulty gene, all symptoms were reversed and Rett Syndrome appeared cured, albeit in a mouse. From this point, the potential for a cure for girls with Rett Syndrome became a very real prospect and this is what our Consultant had been referring to.

After discovering about the existence and work of Reverse Rett, Team Ciara was set up with the aim of both raising awareness of Rett Syndrome and to fundraise in order to help pay for the research that WILL one day yield a cure for Ciara and the many thousands like her.

Over the past 9 years, Team Ciara  have been involved in a number of fundraising events/activities. Finding the balance between family, work and fundraising is always difficult. But, if we were to stop now, it would feel like we were quitting on her and giving up hope. All of what we have done to date will have been for nothing. Quite simply, the fundraising has to continue until that cure is found and delivered.

The past 10 years have without a shadow of a doubt been the most difficult of our lives and we still live with the daily fear that we could lose Ciara at any time. But, at the same time, Ciara has taught us so much and inspires us in so many ways. The way in which she fights every minute of every day is incredible to see, and with a smile on her face that would melt the coldest of hearts.

For me personally, Rett Syndrome and how it affects Ciara has over the years played havoc with my state of mind, completely changing my perspective and outlook on life. I am in no doubt that if I’d ever
gone to see my GP and talked about the thoughts and feelings I’ve had over the years, I would have been offered drugs and signed off work in a heartbeat. Having said that, I am now in a better place mentally than I was (I think!) and look to find the positives in every situation. Ciara has taught me that!

Yes, Ciara has Rett Syndrome, which has caused her to have many disabilities and yes, it will kill her at a young age, unless a cure is found. But, we are so lucky to have her as our daughter.

Ciara is still unable to sit unaided, cannot talk, cannot feed herself (now has a feeding tube), cannot purposefully use her hands and cannot communicate her thoughts and feelings, as she would like. 

2021 is a year in which Ciara should be looking forward to starting Secondary school and I should be worrying about the usual associated headaches.....boys!! Instead, Ciara is in for a particularly rough 12-18 months as she now needs two big operations. The first is spinal surgery due to her worsening Scoliosis. This will then be followed up 4-6 months later by having bilateral hip surgery/pelvic reconstruction due to her right hip being completely dislocated.

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