Holding Our Breath and Venting Frustrations!

Back in July, during one of James’s ocular injections, we were informed his left eye was still regressing but how much or how quickly was difficult to determine.

Last week, we met with James’s ophthalmologist for his regular checkup and having to go tied my stomach in knots. James had OCT scans and other pictures taken of his eyes — detailed images that help us see what’s happening behind the scenes, so to speak.

His left eye was still showing signs of regression, but regressing slowly — and we believe that’s thanks to the injections. His right eye, thankfully, appears stable. Not necessarily improving, but not getting worse either, and with Batten Disease, stability is a win we will take.

I remember holding my breath as the doctor went through each image. And let me tell you, she took her time analyzing each and every image – comparing them to the last images taken. In the back of my mind, I was preparing for the conversation I’ve dreaded: “We should probably start thinking about James’s quality of life with the ocular injections and if they’re still worth continuing.”

But that conversation never came. The regression was so miniscule, his doctor and I decided the injections were still worth it. Since the June to July regression visit, we’ve had the July to August visit with images showing that, even though his left eye regressed, it is now holding steady with no changes.

For now, we get to keep fighting and keep preserving what he has. And that feels like a small miracle.

-------Warning: Venting Frustration!-------

Recently, I read an article from the BDSRA website (it’s their ongoing research update article) about the UK and Brineura. Here is a very short summary of the UK’s decision regarding access to Brineura for CLN2 patients and I’ll post the link to the BDSRA article below.

Within the past few months, the UK’s NICE decided that after December 2025, children diagnosed with CLN2 will not be able to start treatment with Brineura—the only therapy that slows the progression of this disease.

 As you all know, James receives Brineura every other week. It doesn’t cure him, but it gives him, and us, precious time to walk, play, and just be a kid and family. Under this ruling, children diagnosed after December 2025 won’t get that chance. Families like ours know exactly what that means—regression, suffering, and loss that could have been delayed.

Drawing a line between which children get treatment and which don’t is absolutely devastating. Don’t get me wrong, I’m grateful that children diagnosed before December 2025 can continue treatment. But for those diagnosed after, I can’t even begin to put my emotions into words. I understand Brineura is expensive—out of pocket, the drug and its administration could cost us nearly $1.1 million a year. That’s an enormous cost for a single patient, and yes, it’s a treatment for an ultra-rare disease. I get that the decision comes down to money. But what breaks me is knowing they admit this drug works in the short term, yet still decided the price tag outweighs a child’s chance at more time: to be with their family, to be a child, to live. Allow me to be very informal and just scream: UUUUUGGGGHHH!!!!!!

A small glimmer of hope: foundations and advocacy groups are pushing back hard to get this decision reversed. I am following this very closely and will try to update with any news.

Here’s the link - you’ll need to scroll down a little to find the article:

Click here to read the article regarding the UK’s decision to stop Brineura (cerliponase alfa).

As always, much love from us all.