Our journey:

James presented with seizures last August of 2023. At the time, although terrifying, we were told it was, “normal” and the seizure was ruled as febrile for his high fever. Fast forward to November, and he had his 2nd seizure. This one didn’t come with a fever and James was diagnosed with focal epilepsy and started his first round of seizure medicine. December was hell with James having upwards of 10 seizures that month. After a 24 hour EEG, he was diagnosed with generalized epilepsy and changed seizure medications.

 

Come January, we were offered genetic testing to see if James would outgrow these seizures. We decided, what the heck, why not. I mean, how bad could it be?

 

We received the results on March 15th, and our thoughts were, “Okay. If he doesn’t outgrow this, that’s fine. We’ll handle it and he’ll still have an awesome life.” We weren't prepared for what the results showed us.

 

James was diagnosed with a very rare, terminal genetic disease. By very rare, I'm talking only 14,000 other children in the world have been diagnosed with this disease. It's called Batten Disease and currently, there are 13 different types of this disease. James has CLN2, which is the most popular one and the only one with a FDA approved treatment.

 

CLN2 affects the TPP1 gene. This gene gives instructions to create the enzyme tripeptidyl peptidase 1 found in lysosomes and the TPP1 enzyme breaks down protein fragments into amino acids, when working correctly.

 

Children who have CLN2 have a significant decrease in the TPP1 enzyme activity. The outcome of this reduced activity is incomplete breakdowns of certain peptides. When these peptides accumulate in lysosomes, the cells can become damaged, leading to cell death.

Symptoms of CLN2 typically begin around age 2-4, the first sign often being seizures - which gets diagnosed as epilepsy. Then it’s followed by loss of motor skills - walking, talking, eating, etc., then he’ll lose his vision. Eventually, his life. He will be lucky to see his teenage years. The treatment for this disease is enzyme replacement therapy, which is an infusion given directly into the brain through a port that was surgically implanted in his head. The ERT will slow the progression, but not stop it.

 

As soon as we received the diagnosis, I quit my job - not only spend more time with him, but also handle the countless phone calls and appointments. Not to mention the travel requirements for the infusion. There are very few hospitals in the United States that have this drug - the closest one being UNC Chapel Hill. Every other week we will travel to UNC for James to have his infusion.

In the meantime, we are striving to give him his best life. Don’t get me wrong, that doesn’t mean we have accepted his fate - because we haven’t. We are fighting to save his life. The countless research of clinical trials, coordinating travel to Batten conferences (and clinics) for the latest research updates on gene therapy - we’re fighting for him. We read up on stories of other families struggling with the same diagnosis, looking for any ray of hope.

 

BDSRA Foundation #BattenDay2024 #battendiseaseawareness