One Year Later…
Exactly one year ago yesterday, on March 15, 2024, we walked into our neurologist’s office for what we thought would be a routine follow-up appointment. We were there to discuss the results of the genetic test we had taken back in January.
Cory and I had talked before the appointment. We had prepared ourselves. If it was epilepsy, we could handle it. If he grew out of it, that would just be better. We knew in our hearts that no matter what, our son would have his whole life ahead of him. We were confident. We were ready. We just knew that James would be fine regardless of the outcome.
I’ll never forget how normal everything felt when we arrived. I had taken that morning off work for the appointment. Everything was routine as we checked in. The nurses were kind. There were no red flags. No warning signs. It was just another doctor’s visit.
And then, his neurologist walked in.
He sat down across from us, and just kind of shook his head. He looked at us, and we could see the weight he carried. He was at a loss for words.
Then, he said them. The words that shattered our world: Batten Disease - CLN2.
A disease so ultra-rare that even our neurologist couldn’t explain it in detail. A disease we had never heard of before but would soon come to know all too well. In that moment, the life we thought we had ahead of us was gone, replaced by one filled with questions, fear, and heartbreak. I remember sitting there crying and shaking, everything so surreal, and asking him, "So you're telling us we're going to be burying our son?" What could he say? He was at a loss for words too.
I can still feel the way the air left the room when he spoke. How the walls seemed to close in. How the reality of what was happening refused to sink in all at once. Our minds went to worst case scenario – could we even get a casket made in a manner that would honor him? Maybe one made into the shape of a garbage truck or dig dig? This is where our mindset was. What else were we supposed to think?
That day, March 15, 2024, will always be the day that divides our lives into ‘before’ and ‘after.’
When we got home, we didn't know what to do. As far as we were concerned, we were trying to figure out how we were going to move states to get him the treatment he needed. We researched and researched what this disease was, where Brineura was offered, and the best hospitals we needed to get him into. We texted, emailed, and called everyone we knew, hoping and praying that maybe someone knew who or where we needed to go.
We were fortunate that we had a second opinion neurologist lined up a few days later. She was familiar with Batten Disease and was able to send referrals to UNC Hospital, where Brineura was offered. We finally felt like we were being pointed in the right direction. On top of that, and through connections of connections of connections, we were able to get in touch with Kennedy Krieger in Baltimore for a Batten clinic evaluation.
One year later, we are still standing, still fighting and still hoping.
Because even though Batten disease has taken so much from us, it will never take our love for James. It will never take away the fight we have inside us to keep pushing for more awareness, more research, and more hope for families like ours.
We didn’t know what CLN2 was one year ago. But today, we know more than we ever wished we had to. And we will make sure the world knows, too.
