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BATTEN DISEASE ~ THE FACTS
John & Bridie Philpott (above) are both suffering from Variant Late Infantile Battens Disease which is a terminal illness with no cure.
Variant Late Infantile Battens Disease (CLN6) is such a rare genetic disorder that there have only ever been about 12 to 15 diagnosed cases in this country, John & Bridie are currently the only two children in this country with the Variant form of Late Infantile Battens Disease.
To be affected, a child must inherit two defective genes, one from each parent, there is only a 1 in 800,000 chance of meeting a partner who has the the same defective gene! Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene. The defective gene causes a deficiency of an essential enzyme resulting in the body's inability to break down lipopigments (fats and proteins). The build up of these fats and proteins ultimately forces the child's brain cells to shut down.
The Symptons ~ Early symptoms of this disorder usually appear between the ages of 5 and 10 when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behaviour changes, slow learning, clumsiness, or stumbling. Over time, affected children suffer mental impairment, worsening seizures, loss of muscle co-ordination and progressive loss of sight and motor skills. Eventually, children with Battens Disease become blind, bedridden and unable to communicate, leading to a vegetative state. This disease progresses rapidly and ultimately ends in death between ages 8 and 12.
Targets & Aims ~ John & Bridie's Batten Disease Charity is striving to find a treatment and a cure for Battens Disease. Their goals include fundraising events to raise money to fund more researchers to work on finding a cure. They also hope to enhance community awareness of Batten Disease.
Their aim is to raise enough funds to pay for more researchers in the hope that something can be found to slow down the disease's progression long enough until a cure can, hopefully, be found!Unfortunately, they do not have time on their side and the only hope of a future for John & Bridie lies in the research!
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