1. The body is an intricate network of systems and processes that all, somehow, work together to make us what and who we are – controlling everything from the most basic life functions to what we dream of, who we love and when we cry.
2. Any one of these systems or processes can break or malfunction – in a single moment on a fateful day, over many weeks, months or years or before we are even born, when the body’s instructions are still being written.
All forms of NCL, or Batten disease, fall into a group known as lysosomal storage disorders, a group of about 40 diseases caused by a lack or severe deficiency of a lysosomal enzyme. Lysosomes function like garbage disposals. Basically, waste material is sent to lysosomes to be processed by lysosomal enzymes. If these enzymes are missing, the waste material builds up over time, and the cells get jammed with waste.
So essentially, children who suffer from Batten disease are destined to die young all because of a clogged drain.
3. All of the body’s systems and processes are intricately entwined – and connections exist between many different diseases affecting different groups of people.
Two talented researchers, one of whom is well-known in Batten disease circles, have invented a novel way to approach Alzheimer’s disease – a progressive brain disease that affects as many as 5.3 million Americans. Through a series of experiments, Fred Maxwell, PhD, of the Weill Cornell Medical College, and Peter Lobel, PhD, of UMDNJ-Robert Wood Johnson Medical School, identified the administration of CLN2 (also known as TPP1), the enzyme that is missing in children with late infantile Batten disease, as a promising treatment for Alzheimer’s. To learn more, click here.
We’ll keep tabs on the ongoing development of this important work. In the meantime, I hope that the research and medical communities and the general public will not forget the children who desperately need enzymes like CLN2 to survive their brave fight with Batten disease.