Luton family’s plea to find hope for their children
A Luton couple trying to find treatments for three of their children who have a rare condition are appealing for help.
Melissa Barr and husband Kevin from Farley Hill, are hoping to travel to The Children’s National Medical Centre in Washington, DC, in America with their children to help the centre with its research.
The centre has instigated some research into the genetic condition, but need to see as many children with the condition as possible.
Three of the couple’s four children have the very rare Labrune Syndrome.
Melissa said: “The condition means they have leukoencephalopathy, brain calcifications and cysts, resulting in dystonia, seizures and cognitive decline, this is a degenerative condition and their symptoms will only progress.
“Jennifer was diagnosed with the condition when she was six, Shannon was two and I knew quite early with Lennon, I think he was about one.
“The condition affects them all differently, Jennifer, 14, has suffered many seizures, and also has epilepsy, she is currently on 2 anti-epileptic medications to try to prevent these.
“She also has learning and social development delay, she had to have brain surgery at the age of two to remove one of the cysts. Despite all of this, she is one of the funniest people you will ever meet.
“Shannon, 12, is the most affected physically, she has some walking difficulties and is extremely clumsy and accident prone. She suffered a stroke at the age of five, which resulted in a cognitive delay, she now attends a specialist school and is getting the support she needs.
“A few months ago, Shannon suffered her first seizure and has now started to lose power in her right side, her doctor is concerned she has developed a bleed in the brain, and this being investigated currently. Shannon is a very sweet and loving girl who only has one passion, horses.
“Lennon has recently had a few seizures and has a stammer, but he is doing well at the moment. He lights up our house, he is such a loving boy who is always ready for a giggle.
“Due to the rarity of this condition there is no cure and there are currently no treatments available and it is just a case of firefighting when new symptoms arise.”
Melissa added: “After discussing with the children’s consultant at Great Ormond Street Hospital, he feels it would be useful to everyone if we could attend.
“The children would be evaluated by multiple specialists in neurology, physical medicine, speech-language pathology, neuropsychology and genetics.
“Reports from all these will be provided to pass to our doctors here.”
In a Justgiving appeal Melissa said: “To get all of us to America for the few days the conference is being held is very expensive and we just couldn’t do it, hence the need for this page. If you can help in anyway it would be greatly appreciated.
“We are hoping that by going to the conference we can help the centre find a treatment for the condition and also the cause and a prevention.
“If we do not reach the target in time and are unable to attend the conference, all the money raised will be passed to the research team to enable them to continue with their efforts.”
The couple’s oldest daughter, Chloe, does not have the condition but is a carrier of the gene.
Melissa said: “As a family we take each day as it comes, when they were diagnosed there were a lot of things we were told that could happen, some of them are horrible, so we try not to think about it too much.
“We just try to take each day as it comes.”
To make a donation to the family’s Just Giving page visit: www.justgiving.com/crowdfunding/thebarrmob?utm_term=yEb6Yaew3.