Tuesday, 7/7
I had an hour long consult with Dr Darras and Rachel and we went over her history, the notes from the other physicians at Childrens and he did the typical “neuro exam.” And he looked at her eyes as best he could without dilation. We agreed upon an MRI with contrast, EEG, Skin Punch *AND* we are testing for Batten Disease. Batten Disease has been on our minds for a few weeks and I was not really surprised when it came up and I jumped at the chance to have her tested for it. Watching her decline due to some currently unknown cause is really really difficult.
Keeping her, my daughter, separate from her actions is almost impossible. I am so glad that this stage of testing is happening over the summer because I think that would have sent Rachel and me over the edge.
Also, I wanted to post this micro conversation I had with her today.
Me: “Rachel, what did I talk about with the doctor today?”
Rachel: “Because I’m a good daughter.”
Her language skills (receptive and expressive) have been problematic for quite some time but I wanted to write this one down because, somehow, it seemed relevant. When I am meeting with a physician they ask me all sorts of questions and I answer them in full with as much detail as I can offer and although she is sitting 3 feet from me, it is like she has no idea what we are talking about. Her working memory has been poor for a few years as has her language skills but she is definitely getting worse. I just wish I knew why. For better or for worse I want to know what is doing this to her, if there is any treatment and the prognosis. Several of the possible diagnoses are fatal. I have mentally accepted this but emotionally… I am swimming in the fucking river of denial.
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.
Kat,
Swim in that river because you need to be able to function and get all this testing done. I just googled Batten disease. That fact that you think she might have this is horrifying.
My situation with Nathan was quite different but I can empathize with the horror of watching your child go through all of this medical crap and fearing for their life. If you ever want to talk, PLEASE feel free to call me. Not sure if this entry is public or private so I will email you my #
Kat,
I feel incredibly underqualified to leave any kind of comment, other than to say we’re thinking of you and hoping for some light in all this darkness.
Thinking of you all.