05/14/2026
Every year on June 9th, we recognize International Batten Disease Awareness Day and honor the children and families fighting this rare and devastating disease. As we approach this important day, we want to take some time to share our Batten Disease story.
This is Sam. He is a 2-year-old little boy who is full of energy, joy, and life.
It is hard to imagine life before Sam because he has brought so much love and happiness into our world, but there was a “before Sam.” When Kolby and I got married, we knew we wanted to start a family. After battling infertility, we decided to pursue IVF to help grow our family. As part of the IVF process, we both underwent genetic testing. Within days of finding out we were finally (unexpectedly) expecting, we learned we were both silent carriers of Batten Disease.
We chose to undergo additional genetic testing during pregnancy. At just 16 weeks gestation, we received the life-altering diagnosis that our baby had Batten Disease. I remember that day vividly. We were on vacation, standing on the beach as storm clouds began rolling in. It felt symbolic of the storm we were about to face.
Batten Disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare, inherited neurodegenerative diseases caused by autosomal recessive genetic mutations. These mutations disrupt the cells’ ability to dispose of waste, causing proteins and lipids to build up within the body’s cells. There are 13 known forms of Batten Disease, often referred to as CLN1 through CLN14. It is estimated that only 2 to 4 out of every 100,000 births in the United States are affected by Batten disease.
Sam has CLN2, also known as Late Infantile Batten Disease. This disease is marked by seizures, aggression, vision loss and blindness, and the progressive loss of motor skills and cognitive abilities. Children diagnosed with CLN2 typically have a life expectancy of just 8 to 12 years. There is currently no cure.
Every two weeks, our family travels out of state so Sam can receive a life-sustaining enzyme replacement therapy called Brineura, delivered directly into his brain. He began these biweekly treatments at just 9 months old in hopes of delaying the onset of symptoms. While these treatments may slow progression, they will not stop this disease from taking our precious boy from us.
In February 2026, after scans showed progression of vision loss due to thickening of the retinas, Sam also began receiving monthly sedated injections of Brineura into his eyes in hopes of slowing the progression of blindness.
We fight every single day for a cure. We need a cure for Sam and for every precious child battling this disease. We humbly ask you to join our fight by donating to our FamFund established through the BDSRA Foundation, which directly supports critical CLN2 research. Your tax-deductible donation could help pave the way for more years with Sam and the chance to hear his laughter well into adulthood.
https://p2p.charityengine.net/FamFunds/Fundraising/individual/hopeforsam
Please continue sharing our story through Hope For Sam. If one more person learns what Batten Disease is, then we have done something right.
And above all, remember to be kind. You never know what battles someone may be fighting.
