by siteadmin | Aug 4, 2023 | Uncategorized
Nicholas has been doing excellent for the past month. With only a few seizures last weekend. He had gone almost 4 weeks without a seizure prior. He is moving forward in physical therapy with great strengh and determination. He has started 1st grade at the...
by siteadmin | Aug 4, 2023 | Uncategorized
This month we have been so busy. I will start first with how Nicholas is doing. He really has continued to decline this month both with his eye sight and mobility. It has been very difficult for us to watch this rapid decline. Here is a picture of Nicholas with a...
by siteadmin | Aug 4, 2023 | Uncategorized
Hello! Sorry it has taken me so long to post July’s notes. A lot has gone on here and I will start with the best news first! William does not have Batten disease! He is not a carrier of my gene defect. We are still waiting for Chris’s gene testing to come back. The...
by siteadmin | Aug 4, 2023 | Uncategorized
It has been a while since the last post. Nicholas has been doing excellent on the new medicine regimen. He did have a small set back last Sunday with a small seizure but otherwise his mobility has been good. He is able to run around without falling for about 10-15...
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...
