OFFERS HOPE FOR TOT
and spleen, which results in symptoms similar to those to Alzheimer’s, including slurred speech and memory loss.
Bonnie’s heartbroken parents are now raising funds to send her for a potentially life-extending treatment.
After discovering there were no clinical trials for children her age in the UK, the couple found a study in America which has offered them a glimmer of hope.
Kayla, 20, said: “When we found out it was called childhood Alzheimer’s we couldn’t believe it.
“We thought it was just for old people and not a wee baby like Bonnie.
“We were so upset when we got the results and were told the life expectancy.
“We had never heard of this happening to a child, let alone an infant, before.
“You expect to have kids and for them to all be healthy and happy, and this was a huge shock for our whole family. There is no known cure at the moment and no clinical trials in the UK for children under two, so we are determined to get Bonnie to the US while there is still time.
“If Bonnie does get accepted for trials in America, the chances are we will need to move to Chicago as she will need treatment every two weeks, at least until she is two.
“We will need to get health insurance, which will push costs through the roof, as well as paying for travel and for relocating there.
“We are just a young family and can’t afford it by ourselves.”
The American clinic is carrying out ongoing drug trials – including the treatment known as VTS270 which would suit Bonnie’s needs. Kayla added: “It is given via a lumbar puncture once or twice a month, which takes a drug called cyclodextrin straight through the central nervous system.
“I have spoken to the doctor who pioneered the test treatment and he has offered to do all the blood work free of charge.”
NPC affects just one in 120,000 babies and there are as few as 100 sufferers in the UK, with only six reported cases in Scotland.
It is a hereditary neurodegenerative disease, which is passed on if both parents are carriers.
Symptoms include jaundice at birth or soon after, an enlarged spleen and liver, difficulty with eye movements up and down, slurred speech, learning difficulties, sudden loss of muscle tone, tremors, seizures, clumsiness and swallowing problems.
Some people develop neurological symptoms very early on and others can stay symptom-free for some years.
Infants showing signs of the disease rarely live past the age of five but those whose symptoms appear after the age of five can sometimes reach 20.
Speaking about the clinical trials, Kayla added: “I have been speaking to families every day hearing how good their stories are.
“I heard how one lady was unable to walk or talk and she is now able to go back to work as a result of the trial. We just need to get Bonnie out there.” ● Donations to help Bonnie and her family can be made at www.gofundme.com/ bonnies-fight-against-npcd