From the Batten Disease Research and Support Center…
Children and adults with Batten disease have inherited genetic material from their parents that may take some years to come to bear in their everyday lives. And when it does, families are often in shock when they learn how a normal child or adult (Kufs form) could change quickly, and without seeming cause. Regardless of where your loved one is in the progression of Batten disease, BDSRA wants you to know there is a community of people like you learning about and coping with this life limiting illness.
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. With Batten disease, cells are thrown out of balance with the build-up of proteins and lipids (fats).
Because of these damaged cells, patients with Batten disease suffer progressive neurological impairment, which includes:
- Visual impairment/blindness
- Personality and behavior changes
- Loss of motor skills and the ability to walk, talk and communicate
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 results in an early death of our 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 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 diagnoses.
Our family has been fortunate to come across great resources and connect with other Batten Disease families via the Batten Disease Support and Research Association. We encourage you to view their website to learn more about this terrible disease and how you can help.