Thursday 7/9

Posted by Kat in Kat, Rachel

Our weekly trash day is Thursday (today).  Easily my favorite day of the week.

I have spoken with different people at Children’s since writing on 7/7 and really need to figure the best way to communicate.  I like a nice bulleted list but that seems really cold and unfeeling.  Let’s try it without the bullets:

I found out today that the EEG on 7/13 will be “sleep deprived” meaning that on Sunday night she is to have no more than 4 hours of sleep, preferably from about midnight until 4am.  I imagine that they are hopeful that she will get sleepy when she is having the test because a lot of “not known about” seizures occur when a child is trying to fall asleep and they want to capture that.  Let me state that Rachel, to my knowledge, has never had a seizure.

Rachel has been cleared to have her MRI on 7/23 under sedation (not anesthesia).  I was a little surprised that she was cleared given all of the concern surrounding the idea of general anesthetic and the ERG but we are clear and I am grateful because I *REALLY* want to see if there has been any noticeable change.   The MRI she had 16 months ago was without contrast and the new MRI will have contrast.

I did some looking into the lab that is doing the testing of her DNA for Batten Disease and depending on the type of testing they are doing it says that it will take anywhere from 3 weeks to 3 months.  If only we could pee on a stick for every ailment, much like a store purchased pregnancy test.

Ryan, my nephew that is the same age as Rachel is on his way from Connecticut right now to come and spend some time with us.  I think it will be good for Rachel to be around another child her age and have a buddy.  Let’s just hope he doesn’t eat a lot, right?

I’m trying to keep smiling but its a very up and down battle.  One minute I am convinced that she has something really horrible and then the next minute I have myself convinced that there is absolutely nothing wrong with her (and that she can see fine).  Mostly I am just keeping on top of my life, my children, Rachel’s care, the web business and crossing my fingers that she is ONLY going blind.

Who would ever thought that a parent would be hoping beyond hope that their child was “merely” going blind.  I never knew that a child could have normal vision and then go blind in childhood until  this year.   We’ve all heard of the firework accidents, the rare infection causing blindness and children being born blind for whatever reason.  What else don’t I know about?  I don’t think I wanna know.

Tuesday, 7/7

Posted by Kat in Boston, Health, John, Kat, Rachel

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.

No ERG today

Posted by Kat in Kat, Rachel

Anesthesia doesn’t feel comfortable putting her under without more testing and information.  Our largest priority in all of this is keeping Rachel healthy and alive so I am more than comfortable waiting if that is what “they” want.

Instead of another day at Children’s, I am sitting at home watching “Cars” with Julie, London and Boston.  Rachel was able to sleepover at my Moms last night after I did anything I could to get her to be as cooperative as possible with the Ophthalmologist.  It is yet another rainy day here in Hull and I am kind of glad I get to stay home and just chill out.  Surely the children would love to be at the park today or out and about but I am grateful for a day of nothing.

The next step for Rachel is meeting with Neurology on Tuesday, we have been bumped from “regular Neurologist” to seeing Dr Darras.  Thank you to Dr Rappaport in Developmental Medicine for pointing us in that direction.  From what I can tell, seeing a Neurologist is more crucial for Rachel right now than just having the ERG because the Neuro can help us get testing to see what is causing Rachel’s symptoms.  I imagine there will be another MRI done very soon but I wonder if she will be able to sit still for this one.  Her inability to attend has gotten noticeably worse than it was this time last year and it has been the best part of 16 months since she had the first MRI.  I am sure I am worrying about nothing and Dr Darras will set us down the right path with testing that Rachel will be able to do with and without accommodations.

I will try and keep this updated regularly and keep it out of facebook.  The other thing that happened yesterday is that we officially filled out the paperwork to register Rachel with the Massachusetts Commission of the blind.  It wasn’t really a big deal because it was expected to happen either yesterday or at the next appointment.  The biggest shock came to me earlier this year when the first Ophthalomogist first looked at her retina… I’m not sure I can be suprised like that again.