Rett Syndrome affects one in 10,000 girls in Ireland. Karen Murray reports on a campaign to raise awareness of a condition that is very difficult to diagnose
To mark Rett Syndrome Awareness Month — which is associated with the colour purple — Lord Henry Mount Charles is illuminating Slane Castle in tribute to his eight-year-old granddaughter Laragh Conyngham who was diagnosed with the condition in 2015.
Rett Syndrome, a regressive genetic X chromosome condition, almost exclusively affects females. It is a rare neurodevelopment disorder resulting in learning and physical disability and features repetitive and stereotypical hand gestures. It is characterised by normal early development, followed by a period where skills are lost.
One in 10,000 girls in Ireland are affected by the condition and it is difficult to diagnose due to the lack of genetic testing here. The Irish arm of the Rett syndrome support group reaches out to fewer than 75 families but the statistics indicate there should be about 300 cases nationally.
Great strides are being made overseas into research for a cure and to help alleviate the symptoms to provide a better quality of life for people with Rett syndrome and their families. Most sufferers are confined to a wheelchair but as awareness of the condition grows, an increasing number of people with the condition display milder variants of the disorder. Some can walk and talk but in all cases suffer a range of symptoms similar to autism, epilepsy, Parkinson’s, cerebral palsy and anxiety.
Laragh’s parents, Alex (Lord Henry’s son) and Carina Conyngham spent three years trying to achieve a successful diagnosis for their child, who has a rare mild variant of Rett with preserved speech. In the end they had to go to the UK for a diagnosis as genetic testing is not currently available in Ireland.
Carina says that while raising Laragh has presented some challenges, she has given them a great amount of joy. She is very mobile, loves walking, horse riding and swimming. As she has issues with balance and hand function, she uses a Tobii eye-gaze device which helps her to communicate.
She compares Laragh’s condition to Locked-In syndrome and believes that while her daughter will always need 24-hour care, she is more cognitively able than people believe. Naturally she worries about the difficulties Laragh faces as she gets older.
Carina, who also has two sons, Rory and Casper aged 7 and 5, says their hardest struggle was to get a diagnosis to enable them to get the help and support that she needed.
“We felt as if we got no answers, that we should just go home and get on with our lives.
“You cannot diagnose Rett syndrome clinically. As genetic tests and analysis for the condition are not currently available in Ireland, a diagnosis was only possible by working with medical teams in the US and the UK.
“I reached out on Facebook and learned about a clinic in Portland Hospital in London and within one day at the clinic we were getting answers.
“But we know there are many, many families out there who do not have the money to go to the US or London for this and so they remain undiagnosed.
“I know of others who have children with Rett with preserved speech and they really had to fight to get a diagnosis.”
The Rett Syndrome Association of Ireland (RSAI) is trying to promote swifter diagnoses for all variants of Rett in Ireland. It’s an association of parents and families of people affected with Rett syndrome and other related disorders, providing support and information to families who have received a diagnosis.
RSAI chairperson Declan McPhillips, whose daughter Shauna has the condition, says the work of the association is 100% voluntary and relies on fundraising and organisations including the GAA for support. There is no state aid.
He says statistically there are should be 300 cases in the country, but fewer than 75 are known to the association — which indicates a high degree of misdiagnosis.
“We aim to raise awareness among medical and other professionals who work with people affected by Rett syndrome and other related disorders, as well as public awareness of the conditions, and to encourage and assist research,” he explains.
Mr McPhillips says some of the funds they raise through family days and other events go to the US to Reverse Rett (www.reverserett.org) which is researching for a cure.
In 1999, the Baylor University in Houston, Texas, identified the mutations in the MCEP2 gene that causes the syndrome and since then scientists have been working to identify treatments to alleviate symptoms and are working towards a potential cure.
Work led by Dr Daniela Tropea of Trinity College Dublin is included in this research and she is seeking to set up a National Centre for Rett Syndrome in Ireland to help fund further research.
“The search for a cure in humans continues , but alongside this there are also many trials taking place around the world trying to identify existing drugs ( e.g. IGF-1) which may relieve some of the many symptoms of the condition.
“That is why continuous funding for research into rare diseases is critical as a breakthrough can often have knock-on effects for other mainstream conditions also,” Mr McPhillips adds.
Obviously raising funds is key to research but so is increasing awareness, which is where the fun idea to light up the castle originated. When asked about why he chose to do this, Lord Henry said: “For the love of my granddaughter and respect for those who care for children suffering from this disease.” Carina adds: “The castle gets lit up green for Paddy’s Day so as purple is the colour associated with Rett syndrome, we thought why not light it up purple.
“Raising awareness is so important. Because so many cases of Rett syndrome aren’t diagnosed here, we don’t see many ‘real’ cases and so there’s a lack of knowledge and understanding. Our hope is that by building awareness of Rett Syndrome and achieving earlier diagnoses it will help other families who are struggling to find out what is wrong with their children in the same way that we did. There is now a potential cure so our aim is to generate awareness and raise funds for the latest human trials for reversing symptoms of Rett, which could radically improve the lives of those affected, and their families.”
Carina says the support they’ve received from the RSAI has been invaluable. “They’ve been brilliant and given us a huge amount of support, but it’s all at grassroots level and there’s no high-level support. We’ve been lobbying the Government for a clinical trial to take place in Ireland.
“Trinity College has the facilities to do genetic testing - but it doesn’t happen,” says Carina. “Without genetic testing, there is a massive lack of diagnosis. Telling people to go home and get on with their lives is not the answer.”
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