• Get Involved
    • Make a Donation
    • Our Sponsors
    • Batten Disease Support
  • Egg Hunt Festival 2023
  • About
    • Batten Disease
    • Nicholas
    • OPTN
    • Board of Directors
    • Contact
    • OUR BLOG
  • 2022 Newsletter
  • Donate Via Qgiv

February 1, 2009

February 1, 2009 by heather in Uncategorized
February 1, 2009

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!

Tweet
Share
Pin it
Previous StoryJanuary 11, 2009 Next StoryFebruary 20th We are home!

Leave A Reply: Cancel Reply

You must be logged in to post a comment.

No comments yet.

  • Popular
  • Latest
  • Comments
  • Southwest incident 24th December 2011

     Southwest incident

  • March/April 2011 17th April 2011

     March/April 2011

  • 2018 John Tanner Pumpkin Shuffle 5 K 23rd October 2018

     2018 John Tanner Pumpkin Shuffle 5 K

  • June/ July 2011 2nd August 2011

     June/ July 2011

  • 2018 EGG HUNT FESTIVAL 14th May 2018

     2018 EGG HUNT FESTIVAL

  • 11th January 2023

     2021 Newsletter

  • 9th annual Nicholas Giving Tree Project 2022- Holiday Care Packages for Children with Batten Disease 11th January 2023

     9th annual Nicholas Giving Tree Project 2022- Holiday Care Packages for Children with Batten Disease

  • 2018 John Tanner Pumpkin Shuffle 5 K 23rd October 2018

     2018 John Tanner Pumpkin Shuffle 5 K

  • BDSRA Batten Disease Family Support Conference 2018 in Nashville, Tennessee 15th July 2018

     BDSRA Batten Disease Family Support Conference 2018 in Nashville, Tennessee

  • 2018 EGG HUNT FESTIVAL 14th May 2018

     2018 EGG HUNT FESTIVAL

  • Southwest incident 242804 Sun+00:002009-02-01T04:39:14+00:00+00:0002b+00:00Sun, 01 Feb 2009 04:39:14 +0000 2011

     Southwest incident

  • June/ July 2011 2201 AM00000040000001428 2011

     June/ July 2011

  • June 29, 2010 292804 J0000002+00:00 2010

     June 29, 2010

  • 311428 Febam09 2011

     May 2011

  • March/April 2011 172804 AMpSun, 01 Feb 2009 04:39:14 +000039Sunday 2011

     March/April 2011

CATEGORIES

  • Fundraisers
  • Nicholas Update
  • Uncategorized

ARCHIVES

  • January 2023
  • October 2018
  • July 2018
  • May 2018
  • January 2018
  • December 2017
  • August 2017
  • July 2017
  • January 2017
  • November 2016
  • May 2016
  • January 2016
  • December 2015
  • November 2015
  • September 2015
  • June 2015
  • May 2015
  • April 2015
  • January 2015
  • December 2014
  • October 2014
  • July 2014
  • May 2014
  • February 2014
  • December 2013
  • November 2013
  • October 2013
  • July 2013
  • June 2013
  • May 2013
  • April 2013
  • March 2013
  • December 2012
  • November 2012
  • October 2012
  • August 2012
  • July 2012
  • March 2012
  • February 2012
  • January 2012
  • December 2011
  • October 2011
  • August 2011
  • May 2011
  • April 2011
  • February 2011
  • December 2010
  • October 2010
  • September 2010
  • August 2010
  • July 2010
  • June 2010
  • May 2010
  • March 2010
  • January 2010
  • December 2009
  • November 2009
  • October 2009
  • September 2009
  • August 2009
  • July 2009
  • June 2009
  • May 2009
  • April 2009
  • March 2009
  • February 2009
  • January 2009
  • December 2008

NEWSLETTER SIGN-UP

Thank you for your subscription.
Your email format is wrong!
Sad, but we couldn't add you to our mailing list ATM.
Loading...
Donate Via Qgiv
Copyright Our Promise to Nicholas PO Box 10106 Bedford, NH 03110 | Website by Squawkdog
  • Get Involved
    ▲
    • Make a Donation
    • Our Sponsors
    • Batten Disease Support
  • Egg Hunt Festival 2023
  • About
    ▲
    • Batten Disease
    • Nicholas
    • OPTN
    • Board of Directors
    • Contact
    • OUR BLOG
  • 2022 Newsletter
  • Donate Via Qgiv