Back from New York
First of all, Happy Belated THIRD Birthday to Boston and Happy EARLY 4th Birthday to London. My boys are awesome and I feel so lucky to watch them grow into little men, drive me crazy and eat my cookies. Here is to another crazy year, guys!
I took Rachel to the University of Rochester yesterday and today to be seen (and to see) Dr Mink and the Batten Disease Clinical Research team. I was lucky enough to have this short trip planned during the time that Heather and Tyler had planned so not only did we see the Batten Disease Experts but Rachel and I had the HONOR of meeting up with another Batten Disease child (Tyler) and his Mom! Meeting Tyler and Heather was a great experience for me and I feel so lucky to have had that opportunity and tie it in with going to the University of Rochester.
The gist of the meeting with Dr Mink is basically that Rachel is showing mild Batten Disease symptoms for a 9yo (which was AWESOME to hear) and that he feels her inattention (ADHD symptoms) is quite severe which is unusual for Juvenile Batten Disease. It is possible that her ADHD symptoms are actually separate from Batten Disease but regardless he suggests that we try her on a stimulant medication to try and reduce those symptoms. Reducing the ADHD symptoms could drastically improve her quality of life.
I’m all about quality of life!
Here is a link to the Batten Disease Clinical Research Center: http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/index.htm
Hopefully the information that they gained from meeting Rachel and me will help them in their research and help other families that are facing the same disease that we are. Ultimately I (as would all of the other Batten parents) would love a cure and hopefully adding Rachel to the stack of data will get us one step closer.
TeamRachel aka mrskatvon is both a website to gain public awareness of Juvenile Batten Disease (which affects my oldest daughter) as well as a journal to remember the events in our lives.
Rachel was diagnosed with Batten Disease in July 2009 and while we knew something was "not right" we had no idea that such a nightmarish disease existed. There are dozens of nasty, orphan disease which affect people both very young and old.
Aside from dealing with the changes of Batten Disease in my daughter, Rachel, I have tasked myself with making life memorable for all of my children to make sure that (at least) 3 of them grow up to be as well adjusted and happy as possible.
I hope the meds can help her. Quality of life is huge.
I hope the meds help and she is able to enjoy things more. HUGE HUGS for you! Luv ya!