Nick's Battle

What is Batten Disease?

Children and adults with Batten Disease have inherited defective genetic material from their parents that may take some years to show in their everyday lives. Families are often in shock when they learn how a normal child or adult (Kufs form) could change quickly, and without a seeming cause.

Batten Disease is one of approximately 50 diseases called lysosomal storage disorders (LSD), meaning that 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) when affected with Batten Disease.

Because of these damaged cells, patients with Batten Disease suffer progressive neurological impairment, which includes:

Because of widely varying genetic mutations, the arc of Batten Disease can vary tremendously for each person. Sadly, until more strides are made in research, treatments and cures, Batten Disease results in an early death of those affected children and adults.

Though recent improvements in genetic testing have made diagnosing Batten Disease much quicker and more reliable, families tell of very long diagnostic journeys, often years after the first signs of seizures or loss of sight. In a recent needs assessment completed by the Batten Disease Support and Research Association(BDSRA), more than 30 different diagnoses were reported by families before the final Batten diagnostic determination. Autism, seizure disorder, epilepsy, PDD and others are common early diagnosis.