Rah Rah
John and I went to see the geneticist and had a good talk with him about Rachel, the diagnosis, etc. The DNA lab at Mass General offers the CLN3 test (for Juvenile Batten Disease) at the super low price of $75 but Children’s Hospital does not honor that price and it would have cost us upwards of a thousand dollars. Needless to say that I put a call into the DNA lab at MGH so John can go in directly and have it done at their lab.
When we got home from Boston, (across the street from our house is a big town field) the first night of football & cheerleading practice had begun. The sight of the cheerleaders who were doing their first night of practicing directly across the street from our front door was a bit upsetting to me. The cheerleaders are about the same age as Rachel. I’m not upset at the girls for practicing, I think it is great that they are and they have every right to be. I’m crying because that will never be Rachel. The what should be / could be really kills me. The only thing worse than the shoulda/coulda is the thought of her realizing what is happening to her. When the rest of her vision goes or when she loses the ability to walk I am sure she is going to be much more aware than she is now.
I can hardly bear the thought of that.
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.
Sometimes I think I will wake up in the morning with a new understanding of this matter.
What I still haven’t accepted is there is no purpose to this. She didn’t do anything wrong. She didn’t anything. She simply is going to suffer and die. It will forever change our lives to no good. That is horrible to contemplate.
I feel everyday for all of you.. that you are going through this. Your right John that she did nothing wrong and it is truly unfair! Love her and cherish her and keep her happy..I plan to do what ever I can. She is a sweet and enjoyable little girl.i am thinking about the now ..just to keep her happy, safe, and loved
I have no words just tons and tons of hugs!
john and kat, my heart aches for you both as you go through this. sending tons of positive thoughts, virtual hugs, and prayers your way.
xoxo
I’m a member of CK….I’ve been following your blog, I’m so sorry for what your family is going through. Please know that you are in my thoughts.