June's Rare Disease is Batten Disease! Batten Disease is a rare genetic disease that is one of about 50 LSDs (lysomal storage diseases).It means that your genetics can be interrupted and then cells can no longer dispose of wastes. Protein and lipids (fats) build up and leave cells unbalanced. With this comes progressive neurological damage. Some of these symptoms include seizures, impaired vision, personality/behavior changes, dementia, and the loss of motor skills such as walking, talking, and communicating.
Batten disease usually takes a while to diagnose since the onset is often sudden. The first signs reported are usually seizures and blindness/vision troubles.Although this is unfortunately the case for many patients, genetic testing has become quicker and more reliable as time passes. Without this testing, a patient could be diagnosed with autism or epilepsy at first, which could give the disease more time to progress.
There are multiple types of the disease. Overall though, unless there is a late onset, symptoms will appear at about 1 or 2 years of age. Some children with certain types will not likely survive past mid-childhood. Signs that a baby has Batten disease include restlessness during the night, stiff arms/legs, loss of interest, loss of skills obtained such as any speaking, walking, or playing, the child may stop feeding or eating, and seizures/vision loss are the most important signs to take action about. Another not as common symptom is frequent chest infections.
Do you or a loved one have Batten disease? You are not alone! Keep fighting H.A.R.D.!