Life Essentials Magazine - March 2017

Fundraising Spotlight
For several years, we searched the world for
treatments or therapies to stop this disease.
There was nothing. However, in 2016, we met
the Gray family. They have two young daughters
who suffer from Batten Disease CLN6, and they
were instrumental in putting together a genetics
team to develop a gene replacement therapy
for children suffering from Batten CLN6. Their
daughters both received the gene therapy eight
months ago, and they are doing very well.
Because it is relatively new, the treatment
and research are extremely costly, time
consuming and not covered by insurance.
Nevertheless, we are determined to raise the
money necessary to treat Sebastian and other
children diagnosed with Batten CLN8. No one
should have to suffer like this.
Batten Disease
WHAT IS BATTEN DISEASE?
Batten disease is a rare genetically inherited
disorder, which belongs to a group of
progressive degenerative neurometabolic
disorders, known as the neuronal ceroid
lipofuscinoses (NCLs). Neuronal ceroid
lipofuscinoses (NCLs) are characterized
by genetic mutations which disrupt cells’
ability to dispose of wastes, resulting in
the abnormal accumulation of certain
proteins and lipids (fats) within the nerve
cells of the brain and other tissues of the
body, resulting in progressive neurological
impairment including developmental
regression, seizures, blindness, behavior
changes and dementia. There are many
forms of neuronal ceroid lipofuscinoses.
Mutations in at least eight different genes
are known to cause Batten disease.