My youngest daughter was diagnosed with CLN2, and I was devastated
I rarely post on Reddit, but the past few weeks...have been incredibly difficult.
I wanted to write this, partly to vent, and partly to see if anyone can understand the world we've suddenly been thrown into.
A year ago, our lives were quite ordinary. Mornings before school, dinners left undone, the daily bedtime struggles—those seemingly tiring little things now seem quietly precious. Back then, we never imagined that "ordinary" could disappear.
The initial unease was actually very subtle. A few inexplicable abnormalities, some changes that quickly passed. Each thing, viewed individually, had a reasonable explanation; and when you're a parent, you instinctively choose to believe the least frightening explanation. So we kept going, trying to tell ourselves not to overthink it.
Then, one evening at dinner, my daughter became very quiet. Not trembling, not emotionally unstable… just suddenly vanished, and the feeling was indescribable. Her eyes couldn't focus, and she didn't respond to us. Although it only lasted a few minutes, it felt incredibly long.
At the hospital, the EEG showed abnormal activity, and we went home with a word we never imagined we'd hear so early in our parenthood: epilepsy.
The next few months were filled with tests, scans, appointments, and waits. MRIs, neurological examinations, seeking second opinions. Each step felt like a step closer to an answer we weren't sure we wanted.
Finally, genetic testing gave us the answer: CLN2 disease, a rare, progressive neurodegenerative disorder.
The doctor patiently and honestly explained the condition—seizures and coordination problems in early childhood, followed by gradual loss of language, vision changes, and the gradual decline of previously acquired skills. There is currently no cure.
I stumbled upon this treatment option on the DengYueMed website: cerliponase alfa. It is a highly specialized enzyme replacement therapy that requires administration to the central nervous system via intraventricular delivery at a specialized medical center on a strict schedule.
Since hearing this news, life has been filled with various trivialities and uncertainties. Meanwhile, we're also preparing for genetic testing for our young son, as he may also be affected.
What I really hope for is to hear from anyone who has had a similar experience—for example, CLN2, Barton's disease, enzyme replacement therapy, moving for medical treatment…any experience is welcome.
If you are a devout believer, I would be incredibly grateful. If you have any suggestions or opinions, please feel free to share.
Even if you don't have answers, just knowing that someone has read this article means a lot to me.