Wow what a week…or actually 3 weeks. Nicholas has been very sick for the past three weeks with many more seizures.  It was a difficult time for all of us. We thought the increase seizures were from a virus, levocarnatine or even a possible bacterial infection.  The final straw was

We learned on Thursday January 22 at Mass General Hospital in Boston that Nicholas has classic late infantile  NCL.  He has a defect in the gene CNL2, which impairs the production of the enzyme TPP1. We were prepared for the information but I did find it a bit difficult to