'She needs 24-hour assistance, and someone with her all the time' - Lord Henry Mount Charles' granddaughter battling rare illness
The granddaughter of one of Ireland’s best known rock concert organisers has been battling a rare and regressive illness which her parents fear may shorten her life.
Laragh Conyngham was diagnosed with Rett Syndrome, a rare and regressive condition that almost only exclusively affects girls.
Toddlers with the condition show normal early development until the child begins to regress and these skills are eventually lost.
Eventually they become confined to a wheelchair and suffer from a range of symptoms that are similar to autism, epilepsy, Parkinson's, cerebral palsy and anxiety.
Her mother Carina told independent.ie: “As an X chromosome disorder, it affects them neurologically. Most of the girls are wheelchair-bound and they can’t talk, and they can’t use Lámh (the Irish sign language) because they have poor hand function so we describe them as locked-in.”
“Retts is a particularly difficult disorder in the sense that your child is born perfect and is developing fine. What happens is your daughter will develop normally, Laragh had minor difficulties learning to crawl and walk but nothing major.”
“Although she’s able to walk, she’s not really able to communicate using language. She has words but they don’t correspond with what she wants to say.”
“We are very lucky in comparison to the other 70 families in the association. Laragh is still mobile and able to talk in some way.”
“She does chin slapping and hand wringing, that’s one of the strongest indicators of Rett syndrome - rubbing your hands together and doing it repetitively.”
Laragh attends St Mary's Special School at Johnstown, Navan, a school for children with moderate to severe intellectual disabilities. She needs 24/7 care.
“She needs 24-hour assistance, and someone with her all the time.”
“She doesn’t have any proper language, she needs to be with people who know her, so that we can read her emotions.”
“As soon as she gets up I need to get up and make sure she’s safe. If we’re walking outside you need to hold her hand. She needs assistance eating sometimes, and she’s not toilet trained.”
Many people who have Rett syndrome can live beyond middle age, but the symptoms can also have a devastating effect on sufferers.
“You do hear of ladies passing in their 30s and 40s. It’s the severe scoliosis as well, so it’s squashing all your organs.”
Carina and her husband spent three years trying to achieve a successful diagnosis for Laragh in Ireland, but eventually had to attend a private hospital in the UK to get the diagnosis.
Statistically, in Ireland there should be over 300 cases of Rett in Ireland but less than 75 cases are known to the Rett Syndrome Association of Ireland (RSAI).
Lord Henry Mount Charles is illuminating Slane Castle the colour purple for the month of October to mark Rett Syndrome Awareness Month.
Carina the aim is to promote swifter diagnoses for all variants of Rett in Ireland.
“The real struggle was achieving a diagnosis to enable us get the help and support that she needs. 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.”
“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 that way we did.”
“As a family we don’t talk about it a huge amount. Even our friends wouldn’t know half the things I’m telling you now.”
“Raising Laragh has presented some challenges but also given us a great amount of joy.”
The RSAI is helping to raise funds for Reverse Rett (www.reverserett.org) and its consortium of scientists that are working towards a cure.
“There is now a potential cure for Rett so our aim is to generate awareness and raise funds for the latest human trials for reversing the symptoms of Rett which could radically improve the lives of those affected, and their families.”