Hope for the Future
Update on James
A few days ago, James had a seizure—the first one since last September. This one lasted over seven minutes, and we had to use his emergency medication, diazepam. As part of our routine protocol, we called 911 to have his vitals checked. I also called his neurologist, who, once again, answered her cell phone without hesitation. After discussing what happened, we decided to increase one of his seizure medications and, thankfully, were able to avoid a trip to the ER.
I’m not sure how unique James’s seizures are, but they can be difficult to detect. We are grateful that they are focal seizures rather than tonic-clonic ones. During his seizures, James remains responsive, and more often now, he doesn’t enter the post-ictal state (where a person falls asleep or becomes unresponsive after a seizure). We can ask him if he’s okay, and he can still respond. The biggest indicator for us is when we ask him to look at Mommy or Daddy, and he can’t—his head and eyes pull uncontrollably to the left while his eyes twitch.
While James still has seizures, we are thankful they aren’t happening daily and that they remain relatively mild.
Promising Research: Updates from WORLDsymposium
Back in January, I learned about an important conference called the WORLDsymposium—a gathering where professionals working on lysosomal disorders, genetic CNS disorders, and other conditions come together to discuss progress, challenges, and breakthroughs in research.
Here’s the thing: while the symposium isn’t necessarily closed to the public, attending is incredibly expensive. However, I discovered something amazing—if you're a parent of a child with one of these disorders, you can register for free. This year, the event was held in California, so we weren’t able to go in person, but there is a livestream available afterward that allows us to catch up on the latest updates.
Why am I sharing this? Because there was a significant update on gene therapy for CLN2 from Tern Therapeutics—specifically, two promising treatments: TTX-181 for the brain and TTX-381 for ocular degeneration. Both showed encouraging results in CLN2 patients.
TTX-181 (Brain Gene Therapy)
A 5-year-old patient received the treatment and tolerated it with no adverse reactions.
90% seizure reduction, allowing the patient to come off two of four seizure medications.
Noticeable stabilization and improvements in receptive language, expressive language, and fine motor skills.
However, there was some loss in gross motor function.
TTX-381 (Ocular Gene Therapy)
Background: While CLN2 currently has an enzyme replacement therapy (ERT) that helps slow progression, this treatment does not cross the blood-brain barrier. This means it does not prevent the rapid degeneration of photoreceptors in the eyes, leading to blindness. Tern Therapeutics developed a gene therapy designed to stop this degeneration, and here are the results:
All six patients tolerated the gene therapy without any adverse reactions.
In untreated eyes, photoreceptor degeneration progressed to full blindness within one year.
In treated eyes, there was a reversal in photoreceptors after one year.
Tern Therapeutics has also announced that they are actively recruiting for Phase II of the ocular gene therapy trial in London, England. I plan to reach out and gather more information on the recruitment process as well.
These findings offer hope. While the treatments are still in the early stages, the progress being made is incredible. It reminds me why we must keep advocating, raising awareness, and pushing for more research.
Why We Keep Fighting
This journey reminds us every day why we need a cure. Enzyme replacement therapy (ERT) is helping to slow the progression of the disease, but it isn’t a permanent solution. It can’t stop Batten disease, and eventually, it won’t be enough. That’s why funding for research and access to promising treatments like these are so critical.
Every single day, I thank God for James—our beautiful, resilient boy. I am grateful for every ability he still has, whether it’s walking, talking, eating, or simply smiling. Through God’s grace and with the support of this incredible community, we will continue to fight—not just for James, but for every child affected by this disease.
In connection with the BDSRA Foundation, I have started a fundraising website for James under the FamFunds umbrella at BDSRA, which allows me to use the foundation’s support to raise funds for Batten disease research. In the near future, I plan to host a fundraising event—most likely a bowling event—to help raise funds for the continued research of gene therapy for CLN2.
Below, you’ll find the link to our fundraising website. Please feel free to check it out and share. James’s Fundraising Page has been replaced with his FamFund page. Instead of donations going towards BDSRA as a whole, the funds will now go strictly towards research for CLN2. Please don’t hesitate to contact us with any questions!
Thank you for walking this journey with us. Your prayers, support, and encouragement mean the world.