Rare Sisters: Beyond Batten Disease

Video Description

“And my mom and I were just sobbing. She doesn’t know that piece of this story. But she gets it, in a way she’s okay with whatever happens. We’re raising our kids to die. And we believe that when they do, when that happens, they’re going to go to heaven.” - Beth and Jon "Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. These genetic mutations disrupt the cells' ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats). There are 14 known forms of Batten disease and you will often hear them referred to as CLN1-CLN14. It is estimated that 2-4 births per 100,000 in the U.S. are affected by Batten disease, though some researchers in the field suggest these numbers are low." - more info: https://bdsra.org/what-is-batten-disease/ Symptoms like visual impairment and seizures are among the difficulties they will face. Because of widely varying genetic mutations, the disease can look differently in each person. While the symptoms of Batten Disease may vary tremendously for each child or adult, there is some overlap and common paths for diagnosis. Strides are continually being made in research. Many different efforts are in development with the goal of improving quality of life, and making progress with treatments and cures for various forms of the disease. BDSRA’s work in this area includes funding and facilitating scientific research at multiple steps throughout the drug development process. We are a transparent, patient-driven voice and advocate. Families, with all forms of the disease, are our primary focus. Working together as a united voice, we elevate the impact of the Batten community in North America and beyond.