Oliver Thoene’s life was forever changed when he was diagnosed with Batten disease at age three. Batten disease is a group of fatal rare genetic conditions that prevent the body from removing waste from cells. The waste builds up in the brain, eyes, and heart and causes progressive degeneration to the nervous system. Only about 14,000 kids worldwide have been diagnosed with the disease. June is Batten disease awareness month, and Stacy Thoene, Oliver’s mom, is sharing their story to help raise awareness.
Edge: How did your family’s journey with Batten disease begin?
Thoene: Our journey to parenthood was filled with years of infertility struggles and medical interventions before Terry and I were blessed with Oliver. Oliver was born on June 6th, 2018. Oliver could throw a baseball before he could walk. He learned to walk shortly after he turned one. He could run like the wind at two, and he could hit a baseball thrown to him before his third birthday. Our joy was immeasurable until, at the age of three, Oliver began experiencing unexpected seizures.
Edge: I’m sure that was scary. How was Ollie diagnosed?
Thoene: Oliver saw Dr. Isabella Herman who diagnosed him with epilepsy. She also recommended genetic testing. His genetic testing revealed a devastating diagnosis—CLN2 Batten Disease. Our lives were turned upside down.
Edge: Ollie must need special treatment. What does he receive?
Thoene: Boys Town’s rare disease team met with us and referred us to Children’s Colorado. The team at Colorado recommended starting Brineura infusions right away to slow the disease’s progression. While not a cure, these treatments grant us the most valuable gift—more time with our Ollie. Ollie currently receives this treatment at Boys Town (the first site in Nebraska to offer this treatment) every 2 weeks. This treatment works by infusing synthetic enzymes directly into the brain through a port. The synthetic enzyme replaces the one that Oliver is unable to produce. Oliver has currently received over 80 treatments. Oliver is able to tolerate the treatments well and handles the 4-5 hour infusions like a champ but can get pretty demanding at times requesting snacks and hot cocoa regularly with his favorite shows playing on his tablet.
Edge: Ollie was a recipient of Bags of Fun Omaha—how was that meaningful for your family?
Thoene: Shortly after starting infusions at Boys Town, Ollie received a bag from Bags of Fun stuffed with Ollie’s favorite things as well as a tablet that would help him get through the long infusions days. Everything was specifically chosen based on Ollie’s interests. We still bring that backpack and tablet with us every infusion. It has brought a lot of joy to Oliver!
Edge: How does this disease impact Ollie’s day-to-day life?
Thoene: Since his diagnosis, Oliver still loves baseball but has since forgotten how to hit a baseball. He needs help up and down stairs, has lost three-fourths of his vocabulary, has begun to lose his vision and requires a paraprofessional in school. Oliver sees occupational, physical, and speech therapists both at school and at Madonna in Lincoln. Within the last year we also started horse therapy at HETRA in Gretna – Ollie is a huge fan! We travel to Colorado every 6 months for a Batten clinic where we visit with specialists who provide recommendations to our local medical and therapy team.
Edge: Are there any events you participate in for Batten disease awareness month?
Thoene: On July 3rd we will be joined by other Nebraska families affected by Batten disease at the state capitol as they proclaim June 9th Batten Awareness Day in the state. On Batten Awareness Day, we will be having our first Ollie’s Purpose Golf Tournament at NuMark Golf Course in Lincoln, Nebraska, to benefit the Batten Disease Support & Research Association (BDSRA). Then on July 7th we will be having a virtual and in person 5K in Eagle, Nebraska.
Edge: How can readers help?
Thoene: You can find information about our fundraisers or donate to BDSRA on behalf of Oliver by visiting Ollie’s Purpose Fam Funds page https://p2p.charityengine.net/FamFunds/Fundraising/individual/OlliesPurpose.