We have 4 wonderful children, unfortunately 3 of them have a rare genetic condition called Labrune Syndrome.

This means they have leukoencephalopathy, brain calcifications and cysts, resulting in spasticity, dystonia, seizures and cognitive decline, this is a degenerative condition and their symptoms will only progress.

The condition has affected all of the children differently, so far...

Jennifer, 14, has suffered many seizures, 1 of these lasting 2 hours where she had to be completely sedated to end the seizure. She is currently on 2 anti-epileptic medications to try to prevent these. Jennifer also has learning and social development delay. She also had to have brain surgery at the age of 2 to remove one of the cysts, this has caused quite a dramatic scar and at the end of April she will be undergoing further surgery to try to fix this. Despite all of this, Jennifer is one of the funniest people you will ever meet and just loves to have a good old chinwag.

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 5, 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, 6, so far is the least affected by the condition (*touching wood*) and has just suffered a few seizures and has a stammer. he is a little behind at school but nothing that his teachers are overly concerned about yet. Lennon 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.

Finally, The Children's National Medical Centre in Washington, DC have instigated some serious research into the condition, but to do this they needs to see as many children with the condition as possible. They are holding a Family Research Conference in July 2019 and after discussing with the children's consultant at Great Ormond Street Hospital, he feels it would be useful to everyone if we could attend.

During the conference 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.

Now, 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.

By as many families attending as possible, in the future other families may be able to receive treatments for the condition and with a bit of luck, hopefully it will be in our children's lifetime.

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.

Thank you,
The Barr Family xx