For the first three years of Brody Koslowski’s life, he seemed – on the surface – to be a healthy, happy boy. So his parents, Matt and Molly, were shocked when, at three years old, Brody had his first seizure while the family was outside playing in the snow. Just one week later, Brody had his second seizure. According to Madison.com, a pediatric neurologist named Dr. David Hsu noticed that Brody had a few other concerning symptoms, such as slurred speech. So he advocated more testing and, in particular, genetic testing. Eventually, this brought around a diagnosis: neuronal ceroid lipofuscinosis type 2 (CLN2), or Batten disease. Now Brody is undergoing treatment with Brineura at UW Health, where he was first diagnosed.
About Batten Disease
Batten disease is a rare, inherited nervous system disorder. The genetic mutations which cause Batten disease prevent the body from breaking down and getting rid of cellular waste. As lipopigments (made of fat and protein) begin to accumulate in tissues and cells, they cause neuron death in the brain, retina, and central nervous system (CNS). Altogether, there are approximately 13 different forms of Batten disease. The four main types are infantile, late-infantile, juvenile, and adult. Lifespan and symptom onset varies depending on type. However, in many cases, Batten disease is fatal by the late teens or early 20s. Symptoms can include:
- Vision loss
- Dementia
- Changes in behavior and personality
- Muscle spasticity
- Cognitive problems
- Sleep disturbances
- Motor skill regression
- Loss of ability to walk, speak, and communicate
- Seizures
Learn more about Batten disease here.
Brody’s Story
At first, Matt and Molly were confused as to how Brody could have a genetic disease. While they knew that the egg donor they used to conceive him was a carrier, Matt’s initial genetic testing showed that he was not. Since Batten disease is inherited in an autosomal recessive pattern, a child must inherit a defective gene from each parent. However, later testing found that Matt had a rare mutation that was not discovered on the initial tests. Neither of the other two Koslowski children have Batten disease.
Unfortunately, during this entire endeavor, Molly was also diagnosed with breast cancer.
Currently, six-year-old Brody is receiving Brineura (cerliponase alfa) infusions. These infusions, delivered intraventricularly, aim to slow the progression of Batten disease and related symptoms. Brody began getting infusions in Chicago in June 2019. The doctors at UW Health, including Dr. Hsu, traveled to Chicago to learn how to administer Brineura. Through this, they hoped, they would make Brody’s treatment more accessible by allowing him to get it in Wisconsin.
Brineura: An Overview
Brineura, developed by Biomarin Pharmaceutical Inc. (“Biomarin”), is the first approved treatment for any form of Batten disease. The Brineura website explains that:
the TPP1 enzyme is missing or not working properly in children with CLN2 disease, [leading] to a buildup of storage materials in their lysosomes, associated with cell damage in the brain. When Brineura is delivered to a child with CLN2 disease, it helps replace the missing TPP1 enzyme.
Treating Batten Disease
For his second infusion – and over 73 others since – Brody has been receiving Brineura treatment at UW Health. These treatments have allowed Brody to be where he is today. Currently, Brody is able to walk without help (although his family has a wheelchair, walker, and accessible van for the future). Although he is non-verbal, Brody is able to communicate through various sounds. Brody loves staying active, through swimming, adaptive bike-riding, and trampolines. He has lost a majority of his vision, but still loves listening to music. Soon, Brody will be turning seven years old. While the future remains uncertain, his family takes every opportunity to spend time together and live each day to the fullest.
For more information on or support for Batten disease, please contact the Batten Disease Support and Research Association.
