Wednesday, 4 March 2015

March 4, 2015

Well, we finally got finished with her assessment.  It was exactly what we expected it to be but we'll get to that in a minute.

If any of you follow me on Facebook, you'll remember a while ago I posted a video of "Katha's radio show".  If you watched past the first minute (it was a 7 minute video, and I don't blame you if you skipped it entirely!) during one of her songs she just spaces out for a minute.  About 5 seconds later, I say her name, she smiles and continues doing what she was doing before she spaces out.  No big deal, right?  Well, we took that video to her doctor today and he thinks we are right, they are seizures.  I will call her neurologist and we'll hopefully get another EEG done to see if that's actually what they are.

They happen about every 2 weeks, which, for anyone who has experiences with seizures knows that this is no big deal.  Seizure medication has a lot of side effects and often takes a long time to get right, so we will try to keep her off of them for as long as we can because she had to take some once and didn't react well to it.

During our talk we found out that if this assessment shows that she's declined a lot while on the medication the government will not fund any future medication.  Right now we are receiving her medication through the drug company on compassionate grounds.  Therefore, it wouldn't affect us immediately but it could be detrimental in the future.

So, we went to get the results of the assessment.  Katha actually did better than what we were expecting.  Her results showed that there hasn't been much change in her cognitive skills in the last two years.  Now, the last test was right before we got her on her medication.  If you remember, not long after we put her on Zavesca she improved, greatly.  So, what this shows is that really, she has had a decline, but she's back to where she started before going on the medication.

So, as far as her medication is concerned, this proves that it has held off any degeneration that is expected with Niemann-Pick type C.  Which, will help us if the drug company decide to cut us off until the government will help us get her medication.

The assessment showed her steepest decline is in her "independent living."  Which, really, we knew because Katha has a hard time doing anything by herself anymore.  She dresses herself, but really, that's about it.  So, what this tells us is that her motor skills has been the most affected by the disease so far.  Which, can't really come as a surprise considering she has gone from walking to in a wheelchair 75% of the time. 

Katha's birthday is on Saturday and she is looking forward to it so much.  We haven't decided yet what we are going to do for it, but it will probably be fairly low key.  Which, for Katha, isn't a problem usually.  She likes laying low.

So, onto the symptoms:

Enlarged Liver and Spleen: Her liver is still 8 cm too large.

Dysarthria (slurred speech):  Katha is still hard to understand, but according to her assessment, she understands a lot more than she can communicate.

Dysphagia (trouble swallowing):  She still chokes a bit when drinking but it doesn't seem to slow her down.

Basal Ganglia (holding limbs at awkward positions):  I noticed she is doing this even when sitting down now.

Dementia (memory loss):  The assessment showed that Katha can remember up to 4 numbers at a time.  Katha is constantly surprising me with how much she can actually remember.

Seizures:  I'll let you know what the neurologist has to say.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  If Katha's laughing, she's falling.  That's just how it is.  I was impressed today as one of the nurses came up on her fairly quickly and scared her.  She started to cry but what I was impressed with was she actually said to the nurse "you scared me" then started to cry.  Usually she has trouble telling people what it is that has made her upset.

Sleep related disorders:  Katha has trouble going to sleep, but most days she wakes up either singing or giggling.  It's one of my most favourite parts of the day, hearing her wake up.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  It's definitely difficult for her but she manages.

Medication:  We still haven't been cut off and we pray every day that she won't.  We were supposed to get one month through Amory's insurance but they called to say that we are still technically over our limit and they will be giving her absolutely no drug coverage this year.  So, here's hoping we can stay off seizure medication for that reason too.  Although, I do honestly believe that she's better off without it for now.

Thanks again for all the love and support.  We could use some more prayers.  Amory has his last shift on Sunday because he has been laid off and I am going to be going back to work.  The last time we tried this I ended up needing back surgery.  Please pray that my back is stronger this time than 5 years ago and that Amory will be back at work soon and that Katha takes to this transition well.  Thank you again!