Batten Disease, otherwise known as neuronal ceroid lipofuscinosis (NCL), is an umbrella term for 14 different types of lysosomal storage disorders. It’s a rare and fatal neurodegenerative disease where the process of removing waste from the cells is disrupted which results in the death of individual cells but on a massive scale. Once individual cells die off, they cannot be repaired. This disease is inherited in an autosomal recessive manner, meaning both parents are unaffected carriers, each having a mutated copy of the same gene. When this happens, there is a 25% chance that each child will have the disease, a 50% chance the child will be an unaffected carrier, and a 25% that the child will not be affected at all.
Symptoms may include vision loss (you may notice the child missing steps, bumping into walls or countertops in a familiar place, or pulling books/i-Pads unusually close to the face), seizures which are often times difficult to control with meds, clumsiness, difficulty walking, loss of speech, repetitive speech, difficulty swallowing (you may first notice this with liquids such as water or juice), cold and or sweaty hands and feet, sleep problems, moodiness, behavior issues, apparent inability to “listen” even though you know the child can “hear” you, and either the failure to meet milestones or the regression of previously learned skills such as potty training, climbing, singing the ABC song, counting, identifying colors, shapes, animals, etc. Eventually, people who have this disease will be bedridden, blind, unable to communicate, rely on a feeding tube, and display signs of Dementia (like Alzheimer’s except in a child).
At this time, there is no cure and treatments in clinical trials are only available for Late Infantile Batten Disease, also known as CLN2. Treatment has proven successful in slowing down the progression of loss of walking/mobility. Correct early diagnosis of this disease is going to be a key to helping children get treatment in the future. Sadly, Batten Disease is often misdiagnosed. Many children are diagnosed with general epilepsy when seizures are the first obvious symptom. Although rare, a diagnosis of Doose Syndrome, a specific type of childhood epilepsy which includes characteristic “drop” seizures may be made. If Doose Syndrome is the diagnosis, it should always be followed by an MRI to rule out any physical brain abnormalities. If there are brain abnormalities, genetic testing should be considered to rule out Batten Disease. Important Note: The test for Batten Disease is not currently included on the “full epilepsy panel” so you may need to ask for it to be added. Many families go though up to 7 misdiagnoses before they get a correct diagnosis and by the time they do, the disease has already caused irreparable damage. It is imperative that knowledgeable parents take the time to educate doctors and the community about Batten Disease.