All parents have fears for their children, but few of them expect their child to be diagnosed with a disease so rare there are only 2-4 diagnoses for every 100,000 births in the U.S. This was the reality for the Bruners and their 4-year-old Tessa. Now they take their daughter to infusion treatments every other week, all while hoping a cure is found for the disease. Her parents say that despite these tough treatments, Tessa’s smile and laugh are just as present as they always have been.
About Batten Disease
Batten disease, which is also known as Neuronal ceroid lipofuscinosis (NCL), is a genetic disorder that affects the nervous system. Lipopigments build up in body tissues and kill neurons in the central nervous system, retina, and brain. There are four main types of Batten Disease, although others do exist. These types depend on the age of onset of symptoms, and each comes with its own life expectancy. As this disease is a nervous system disorder, the symptoms include seizures, difficulties with vision or blindness, changes in behavior or personality, dementia, loss of motor skills, and difficulty talking and communicating. This disorder is recessive, meaning that a copy of the gene must be inherited from both parents in order for one to have the disease. As one of the symptoms of the disease is visual impairments, doctors often suspect Batten disease during eye exams, but there are a multitude of tests that can be conducted to diagnosis it. These include blood and urine tests, skin or tissue sampling, imaging tests, EEGs, and enzyme activity measuring. As of now, there is no cure for Batten disease, but there are treatments available, such as drugs to help with seizures, drugs to slow the loss of ability to walk, physical and occupational therapy to help with motor skills, and vitamins C and E.
Tessa’s Story
Tessa is a four-year-old from Valrico, Florida, and according to Fox News, she is the only child in Florida that has Batten Disease. Her parents first noticed delays in speech when Tessa was only 18 months old. After this symptom, others began to present. Her mother, Trista, said that her daughter began to have problems with her vision, muscle weakness, seizures, and would often bump into things. Tessa currently receives infusions every other weak in order to slow down the progression of the symptoms. Her family is praying that a cure becomes available later in Tessa’s life. Even though there is no cure as of now, Tessa’s parents stress the importance of genetic testing. The earlier a diagnosis can be given, the better.
Advances in Treatment
In 2017 the FDA approved a drug called cerliponase alfa, which is an enzyme replacement therapy drug. It is meant to slow or even halt the progression of symptoms, and it is only applicable to a specific type of Battens Disease, CLN2. Research is being done by The National Institute of Neurological Disorders and Stroke (NINDS) in order to better understand the disease, gene therapy, and developing new drugs to treat Battens Disease.
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