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 take the final diagnosis. I sat on the floor of the doctors office with Nicholas in my lap as he played with his match box race cars. I was able to keep my emotions to myself and try to listen to what experimental studies are out there for us. It was a heart breaking day for Chris and I but we are still trying to look into the future and figure out our next plan and not give up on our hope for Nicholas.
We will be working with Chris, his dad and our doctor at MGH to figure out how best to proceed for Nicholas. We are lucky to have physicians in our family to help us find a cure!
We also had a IEP meeting at Nicholas school with his teachers and therapists. This involved his kindergarten teacher, physical therapist, occupational therapist, speech pathologist, vision specialist, behavior specialist and his case manager. Chris eloquently explained the disease to the team and in detail what experimental studies are available for Nicholas. We are lucky to have a excellent team working with our family. An important part of Nicholas’s day at school is his social interactions with peers and being part of the class. The team has decided it would be best for Nicholas to have an extended school day in which he receives services after school (PT,OT, Speech). Therefore he will be going to school until 12:30PM rather than 10:40AM.
All therapists reported to us that Nicholas has improved from their services since starting in October 2008. Which was good to hear he is progressing. He is still very mobile, his eye sight remains no change but his seizures are still not under control very well. I am continueing to keep a log on our calender of all his seizures for the months. He remains on Ativan to control the seizures and we will continue to keep him on this until it no longer works because it has shown the least amount of side effects.
I am still researching ketogenic diet and this has not been started. We have down loaded all Nicholas MRI pictures, skin biopsy and eye pictures onto this web site. I have also updated some of Nicholas photos of when he was younger. I am in the beginning stages of working on the fundraiser with my town’s mom’s group for the spring and a larger fundraiser in the fall. Lot of work to do and always such little time.
Our highlight in the past few weeks was going to Disney on Ice in Manchester NH. Wow! It was such a treat to sit in the front row of the preformance. Nicholas really enjoyed having the characters come up to us in our seat! Other than that…. we have been keeping busy sledding outside when we can. Again thank you for your posts, emails, phone calls, letters and donations. They really keep me going to stay positive and have hope. We have learned to cherish everyday we have with Nicholas. (and William too!)
Chris, Nicholas and William at Disney on Ice!
Here we are back out in the snow!
