Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease) share that their goal with the treatment is to slow down the disease progression and maintain quality of life so as to have more time with their son. “There are things that are coming that we will have to deal, not everything is fine.” Dad stresses the importance of getting information, including from other parents, to set realistic expectations.
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease) describe how his port goes into the ventricles in his brain and how the infusions are delivered. The side effects in his care are minimal which makes things easier. The port has to be replaced every couple of years.
Diagnosis: Batten disease
“How much did that year apart affect him? We don’t really know.” Parents of two sons, one of whom has CLN2 (Batten disease), talk about how they managed the year apart — when they were separated during the trial — for their older son who remained at home with dad; what they explained to him, how they supported him, how they managed to meet up periodically.
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease), describe the ERT protocol that first year living away from home for the trial — time spent in the hospital, CSF draws, weekly schedule, getting to know the ICU staff. “When you’re in the middle of something, you just do it.” Mom notes that you never know how long the trial is going to take.
Diagnosis: Batten disease
“We were taking a leap of faith because there was nothing else there.” Parents of two sons, one of whom has CLN2 (Batten disease), talk about how they considered enrolling their young son in the trial: they learned from a previous trial in Europe. “When you get a diagnosis that your child is going to pass away, the side effects are not a top priority. It goes back to doing something. Let’s do this.”
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease), talk about some of the emotions they felt knowing that their son was in the trial while other children they had come to know and care for were not. “We felt guilty, because why Matty and not someone else? We understand it rationally but our hearts think something else.” They understand the FDA process, the business and costs of the research and industry.
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease), talk about how lucky they were, with Matt being the right age, to qualify for the trial. It was all about timing. And then they had to be ready for anything — to drop everything and move for the trial. There was no guarantee. So many ‘ifs’. So much waiting. Nerve wracking. “It was only when his port was being put in that we felt it was official.”
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease) and was one of the first children selected for a clinical trial, talk about what it means to be one of the first families in a clinical trial. “There are so many families that came before us, that made a sacrifice. We’re in unchartered territory now.”
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease), talk about the urgency parents feel to do something from the moment of diagnosis on — participate in a trial, raising money, supporting other families.
Diagnosis: Batten disease
Parents of two sons, one of whom has CLN2 (Batten disease), talk about their son’s road to diagnosis — at first they thought it was epilepsy, then autism. Going from that to a genetic diagnosis was devastating. Yes, we want early diagnosis but in some ways it was pretty nice to be clueless those first 3 years.