Three steps forward, no steps back
We got the results from the Developmental exam and the results were pretty depressing but nothing that I wasn’t prepared for. He was not able to give us a diagnosis but a list of concerning areas from cognition to memory to attention, etc. Everyone agrees that Rachel needs to get the ERG next to have a better idea of what she might have. While we were meeting with the Chief of Dev. Medicine, my phone rang! It was the Ophthalmology clinic 6 floors down to let me know that there was a cancellation for Wednesday (7/1)!
Rachel is having her initial office visit with Dr Fulton (Ophth) tomorrow (7/1) and will do the “new patient testing” as well as preoperative testing (ekg, etc). It will be a crappy day for her but hopefully this is one of the last days that will be really bad. Thursday she will have the ERG under anesthesia and some basic results should be ready at the end of the test and a full report will follow (I would imagine) next week.
- Wednesday: Ophthalmology and Preop testing
- Thursday: ERG
- Next Tuesday: Neurology
I’m sure more appointments are in her near future but these are what I know about as of today (and they were all scheduled today. I was supposed to take her to see a different Neurologist on Thursday but that was canceled in lieu of next Tuesday). I have also sent an email off to the Geneticist to let him know about the ERG and to find out when he can see us again (our next appointment with him isn’t until August but with the ERG already schedule, it should to be sooner).
Rachel also did the allergy testing a couple of weeks ago and both scratch & blood testing came back negative.
On a side note: I had my last two fillings today and they took my impressions for my “fake teeth!” I am so excited to check that off the list.
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 am so happy that you are meeting with who you need to, to come up with a plan. All of that forward motion is so positive. Keep giving her lots and lots of hugs during this, and keep reminding her how much you love her.