When children get sick, it can be a scary endeavor. When it’s a rare genetic disease, it becomes a devastating nightmare. A young boy, at four years old, is currently battling Batten disease that also took the life of his six-year-old brother just a year ago. Thanks to a new drug, recently approved by the FDA, there is hope for his survival. That survival will come with a lot of effort, time, and energy. We can only imagine how his family is enduring this situation. If any of your pharmacy clients have Batten disease, here is some information you can share with them.
What Is Batten Disease?
Batten disease is a rare disease that occurs in two to four births out of 100,000 within the United States. This disorder is genetic in nature, resulting from a recessive gene in one or both parents. The disease affects the neurological system, and can appear at various stages in life, but most often in infancy or childhood. There is usually a slow change in the child’s development and can manifest itself in the form of seizures, stumbling, and personality and behavioral changes. Over time, the seizures worsen, and patients experience cognitive impairment and weakening eyesight. When the disease takes its hold, the child could become blind and bedridden. It is not uncommon for more than one child in a family to suffer the disease, as is the case with the four-year-old boy.
How Is It Treated?
In the past, drugs that target the seizures were the most commonly prescribed. Cerliponase alfa is often used to treat issues with walking and physical therapy is employed to try and lessen the impact of the disease. However, none of those treatments actually reversed Batten disease and only bought the child some time to live a little bit longer. The four-year-old boy is now taking treatments of Brineura, which are infusions of an enzyme into the brain. These shots are administered every two weeks and require a hospital stay to observe his reactions. The enzyme is TPP1, something his body is currently not creating on its own. The enzyme enters his brain and “eats” the junk that is building up inside his neurons. The treatment is not a cure but another tool to slow the effects of the disease to buy him time until a cure can be discovered and cultivated. The family does see the effects are slowing, as their son’s disease is not nearly as progressed as his brother’s was at his age.
What Is the Financial Impact of The Treatment?
Each treatment costs the family $70,000, and they are lucky that their insurance is currently covering the cost. The family will have to get re-approved in the next year, and there is a real fear that they will not get the approval they need. To combat that possible outcome, the family has set up a fundraiser to help offset the costs.
Are We Close to a Cure?
Research has been ongoing with no cure currently close to being developed. Scientists are steadily testing new treatments, drugs, and researching genetics in animal hosts with Batten disease. What scientists really need is the brain tissue of those that have passed from the disease so that they can test and study the effects of the disease further.
Do you know anyone with Batten Disease? What are your recommendations for treatment and support? We’d love to hear thoughts from pharmacists or other clinicians who are familiar with this condition.