by siteadmin | Aug 4, 2023 | Uncategorized
Happy 6th Birthday Nicholas! We love you so much! Nicholas celebrated his 6th birthday with friends and famiy on his actual birthday May 9th. It was at the Bounce U at his request as it is a familar place to him and he had a blast. I was very worried that he would not...
by siteadmin | Aug 4, 2023 | Uncategorized
Lots of updates from the last post. Where do I start…… We recently had two doctor appointments last week. The first was a 3 hour ophthalmology appointment at Children’s hospital in Boston. A VEP test done (Visual Evoked Potential Test) in which electrodes were placed...
by siteadmin | Aug 4, 2023 | Uncategorized
Nicholas is doing well. Check out this picture of him on his bike. I did not think he could a ride a bike. He jumped on his bike and rode down the driveway faster than I could say “NO!”. I could not believe it. Next see him back at soccer. We have missed 6...
by siteadmin | Aug 4, 2023 | Uncategorized
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...
by siteadmin | Aug 4, 2023 | Uncategorized
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...
by siteadmin | Aug 4, 2023 | Uncategorized
Happy New Year. Thank you for your touching emails and postings. Nicholas is doing well. He has had a few more seizures in the past few weeks and we have had to add a 12:30PM dose to his daily medications. I will be adding a tab about Nicholas past year of actual...
