Wednesday
I’ve spent the last few days writing a “paper” of sorts for my Biology Class. We had to select three diseases of the organelles and discuss the cause, symptoms and treatment for each. I selected Batten Disease (Disease of the Lysosome), Diamond-Blackfan Anemia (Disease of the Ribosome) and Leigh Disease (Disease of the Mitochondria).
It absolutely kills me that so few people have heard of any of these, know nothing about all of the rare diseases out there. If we don’t have awareness, we won’t be able to cure any of them. As selfish as I know it is, my disease of choice is Juvenile Batten Disease because my daughter suffers from it. I want to do so much for this disease but I just don’t know where to start. The science behind it is extremely interesting to me but it will take me years of school to be in a professional position to do any research. I have this child 3 feet from me listening to Star Wars Clone Wars and I need to do something to help her.
Here are some pictures from yesterday. The last picture is historical proof that my Mom (in her late sixties) will still climb into a gokart. 
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.
Rachel, Julie, London and Boston – I love you so much. Can’t wait to see what trouble we get into this summer!
Kate your OLD Mum is in her MIDDLE 60,s & with Great Granny /Mum being 96 I guess I am a youngster yet.Had such a fun time with you all yesterday with Rachel steering a little challenging but she & I had a good time. Seeing Julie so thrilled to overtake us & wave was great. Heres to Canobie Lake soon.Keep studying we have so much more to learn. Hugs Mum XX
How fun! I love the pictures of all of you! We will cause some trouble with you when you get here too.
xoxox
Kat,
Just wanted you to know I read your blog. I am the Development Director at BDSRA. If there is anything I can do to help you as you deal with Rachel and Batten disease, please let me know. Our whole staff is here to assist you, listen to you, provide resources….just let us know what information you need. One of us is sure to be able to help. Hope you and your whole family have a wonderful 4th of July.