As research technician I realize how expensive treatments and research can be. The amount of money needed is insane. But research is necessary and I personally don’t think that there is a better investment than (medical) research. ‘Batten disease’ was brought to my attention on twitter by a few people, one of them being Jessica Capshaw. I never heard of it before until then. Proof that social media is a powerful weapon!
Batten disease is a rare genetically autosomal recessive inherited disorder, which basically means that both parents must be carriers of the defective gene (but don’t show any symptoms). There is a 25% chance that they pass on the defective genes to their children. It belongs to the group of the ‘Progressive Degenerative Neurometabolic Disorders‘, also known as ‘Neuronal Ceroid Lipofuscinoses‘ (NCL) and is characterized by at least 8 genetic mutations. These mutations cause a build up of lipofuscins in body tissues, because the cells’ ability to break down substances is disrupted. Lipofuscins are lipids (fats) and proteins, which in case of Batten disease will form disposits in neuronal cells and organs. Brain cells are affected first. Symptoms include development regressions, blindness, seizures, behaviour changes and dementia. Depending on the variant of NCL life expectancy can range from as young as 6 to adulthood. Due to its rarity it takes a while before there is a correct diagnosis. The diagnosis is based upon blood and urine tests, CT scans, eye tests, skin or tissue samples, brain scan, DNA analysis,…
The world of the Gray family in the USA has been shattered by not one Batten disease diagnosis but two. Both Charlotte and Gwenyth have been diagnosed with the rare form ‘Late Infantile NCL Batten Disease NCL6‘. Because of the rarity of Batten disease there is very limited data out there.
The Charlotte and Gwenyth Gray Foundation to cure batten disease was founded to raise the estimated 10million dollars necessary to fund the urgent medical research to save the lives of all children devastated by this disease. The first goal of this foundation is to find a successful treatment for CLN6. The ultimate goal is to find a cure for every Batten disease form. The current treatment for Batten disease is directed toward the symptoms of each individual.
“There is nothing more devastating than watching your children suffer”
The Charlotte and Gwenyth Gray Foundation designed a research plan to tackle CLN6 on 3 levels: small molecular drug screening, ex vivo gene cellular therapy and increasing the efficiency of a current study of treating CLN6 in the sheep model. With $1 million dollars the research phase can start immediately.
Every dollar counts! We can all contribute and help make a difference. To support this foundation I’ve decided to sell 2 autographs of Jessica Capshaw from my personal autograph collection. The auction will start on Monday July 6th and will be conducted from the twitter account @BFellicious.
NOTE: This charity has ended. A total of $510 has been donated to the ‘Gray Foundation’. Thank you to everyone who supported this charity and a big thank you to the winning bidders.
No act of kindness, no matter how small, is ever wasted