October 6, 2020

 So, in June, Amory finally got laid off.  He lasted longer than most and we were very thankful for that.  He tried to do dry-walling for a while but it was ultimately not a good fit for him.  So, at the end of June I got a job as a COVID screener/greeter at a Seniors Lodge in Lacombe.  I love it and it's been an amazing experience.  The people and the job itself is exactly up my alley and I have really been enjoying being able to get out everyday.

However, we did notice around this time Katha had started to decline.  We noticed in July that she started choking on solid foods.  I mentioned to her doctor at one of her procedures that she had started choking on solids.  He was immediately concerned and told us that if she is choking on solid foods, that was a significant sign of progression in her disease.  We needed a swallow test immediately which, if showed she was choking significantly, she would need a G-tube.  Even with a G-tube her life expectancy would be months rather than the years we had discussed back in March.

A G-tube is a tube that would be surgically implanted into her stomach and we would feed her formula through a bag into her port.  We feel that this would really be a bad thing to happen to Katha because she loves to eat and it is a huge motivation for her to keep fighting on this path she been on for her entire life.

So, we had the swallow assessment done and when I was in the room with them, the first time the technicians saw her swallow on the floroscopy, they all gasped.  So, I figured it wasn't good news.  As we were leaving the test (which took 15 minutes instead of the hour it usually does) they told me that the doctor should be able to give us the results later that afternoon.

The test results weren't in until the next day and they were worse than expected.  Katha can no longer simply swallow any consistency of food.  Everything gets stuck in her throat and the only reason she hasn't already asphyxiated is because of her voice box and they don't know how long it will be able to keep her from asphyxiating.  

Basically, they told us it was a miracle that she hasn't asphyxiated already, that she probably will soon and that they need to put in a G-tube as soon as possible.  

Even with the G-tube, Katha still has to swallow her saliva and she gets sick a lot at night.  We have been told that she is now medically terminal (which generally means less than 6 months).

As you can imagine, this has been a huge blow for the family.  We are just enjoying our time that we have left with her and being thankful for having so many more years than the doctors had originally thought. We will be putting in a G-tube so that we have to worry less about choking but know our time is short.

We will try to keep the blog updated as much as possible but it may get difficult in the coming months. 

Please keep Katha in your prayers.  

Now the symptoms:

Enlarged liver and spleen: The same as far as I know. We had an ultrasound but heard nothing from it and usually no news is good news.

Dysphagia (trouble swallowing): Obviously, bad.  Katha has been choking at least once a meal, we are just waiting for her to start asphyxiating.

Basal Ganglia (holding limbs at awkward positions): Katha has a hard time with washing her hands or anything where she has to hold her hands straight.  She also can't straighten her legs or her ankles anymore.

Dementia (memory loss): Katha doesn't know the days of the week, the month or even the year.  She knows her family, but doesn't really pay attention to anyone else to remember them.

Seizures:  Still none

Gelastic Cataplexy (falling down in response to a large emotional outburst):  Katha still "passes out" when laughing.  If she does this too many times in a row she will stop breathing as well as seem very confused when she regains consciousness.

Sleep related disorders: Katha will sleep for 30 hours then be awake for 30 hours.  There is no way to regulate her sleeping.  We just try not to have to wake her up very often.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  This comes and goes.  She can sometimes look up a little but not very much.  Sometimes she can't look up at all.

Hearing Loss: Katha still refuses to wear her hearing aids but doesn't seem to have trouble hearing us when we are talking about procedures.  She will immediately start crying, even if she isn't anywhere near us.

 

 

March 30, 2020

In the last year a lot has happened.  We had to fill out Katha's green sleeve.  For those of you unaware, that is instructions if we want Katha resuscitated or if we would want her to have life saving operations, things like that.  We were warned that this would be a very difficult conversation.  We found that since we have been thinking about this separately for the last eight years.  It was kind of nice to have an open and honest conversation together about it.  It was like Amory and I could finally talk about our deepest fears of what Katha passing will look like.

We tried casting her feet again and it didn't work.  The doctor informed us the only thing that would help Katha be able to stand straight again would be surgery.  We have finally gotten to the point with her procedures that it's a fairly streamlined process.  The last thing poor Katha needs is another surgery.  So, we decided to let her feel just stay pointed.  It makes walking for her harder but she manages to get around the house when she needs to.

Her knees are permanently bent as well.  They are close to the point where walking wouldn't be possible.  The thing is, Katha isn't about to go for long walks anytime soon.  So, we have decided to let nature takes it course as far as her legs go.  However, her feet have started to turn blue.  We have been told this is because of lack of circulation because she is always sitting and have been advised to talk about her endocrinologist (her diabetes doctor) about this because they have more experience with this.  We have an appointment later today on the phone with them.

Katha is back on insulin and has been for quite a while.  She started at a few units of insulin a day.  She is now at 30 units long lasting insulin and almost 1 unit for 1  gram of carbs.  From what I understand, that is a lot and could be a symptom of her organs shutting down but all it really tells us is that her pancreas isn't working like it should.  We won't know how her liver and spleen are doing until we get her blood work back and an ultrasound done.

With the schools help we came up with a new schedule for Katha this year.  Instead of her going to school, we have an EA that comes over every Tuesday for an hour.  This has resulted in Katha being excited to learn again.  Every Tuesday when I tell her the teacher is coming she says "OOoo!"  Which is fantastic!  We are so pleased that Katha likes this EA so much.  She is a very kind woman and we really like her a lot.  She is very understanding of Katha's schedule and has no problem just watching shows with Katha if that's all Katha feels up to that day.

So, as you all know, this pandemic has shut down the world for the last 2 weeks.  It's stressful for everyone.  It has affected us in ways that are the same as everyone else.  Dom and Jay are home with us all day.  I have been finding work for them to do such as reading, writing and some math.  We have all been doing some exercise every morning and Katha has been enjoying her brothers being at home with her.  The boys are starting online schooling today, so we will see how this plays out.

Amory is constantly worried that his job will be shut down by the government.  Right now he is working 6 AM to 2:30 PM.  Everyone has to stay 6 feet from each other.  They have staggered lunch times so that no more than 8 people are in the lunchroom at the same time.  They also have to wipe down everything they touch once an hour as well as wear face shields constantly.

As far as Katha goes, COVID-19 has affected her life in ways that are different from most.  Katha just had her yearly check up in March.  Which, almost got cancelled because we were afraid to take her to Calgary because of all the cases there.  She needs blood work done and was able to do it at the Lacombe hospital a couple days after her appointment in Calgary.  She also needs an ultrasound done but that has been cancelled indefinitely as well as any doctors appointments that are not deemed necessary.  This includes: hearing tests, vision tests, gynecologist and neurology.  In fact, we were lucky to see her metabolic doctor but because he's the one that does her procedures, he was able to do a quick assessment while we were there.

Her procedures are still a go for now.  That could change at any moment.  We were determined to do her last one on March 19 in case we are unable to go back for a long time.

We have been online a lot worried about Katha getting this virus, as it could kill her.  However, there have been 3 different studies by 3 different groups of doctors which are finding that NPC patients are mostly likely immune to COVID-19.  Something about how their metabolics don't allow the symptoms to appear in people with NPC1 mutations, which is what Katha has.  However, she would still be able to carry it and give it to other people.  So, we are happy to stay isolating ourselves.  Especially since a common cold could have the same devastating effects as COVID on Katha.

Today, as I mentioned above, we are having a diabetes appointment over the phone.  We have never done this before, so it should be quite interesting.

At our yearly appointment, the doctor kind of gave me trouble.  He feels the amount of Migulstat I've been giving Katha isn't having an effect.  She is currently getting 200mg a day and she should be getting 600mg a day.  Once we are able to get an ultrasound done, he would like to take her off this medication completely to see if there is any difference in her cognitive abilities and her organs.  This would mean Katha would no longer be lactose intolerant and would be able to start eating many of the foods she has had to give up for 8 years.  I know she'll be extremely excited.

Onto the symptoms:

Enlarged liver and spleen: The same as far as I know.

Dysphagia (trouble swallowing):Since Katha has diabetes, the only drinks she can have regularly are chocolate milk and water.  Because the chocolate milk is thicker, she has stopped choking almost completely.

Basal Ganglia (holding limbs at awkward positions):Katha has a very hard time holding her hands straight and her feet are constantly pointed making walking difficult.

Dementia (memory loss):  Katha's sense of time is completely gone, which has been kind of sad because she was always the one that knew what day of the week it was and that would have been really handy right now as all of the days kind of run together.

Seizures:  Still none

Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha had an episode of Cataplexy the other day that lasted approximately 45 seconds.  This wouldn't be a big deal except that she quits breathing during these.  It was truly terrifying.  I mentioned it to her doctor who told me that this happens because her tongue is blocking her airway.  He recommended that she gets an oral airway which is a plastic tube that we would put in the mouth/throat that would keep her airway open during these episodes.

Sleep related disorders:  Katha sleeps when she wants to sleep and stays up when she can.  Generally she's only awake about 6 hours a day.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  This comes and goes.  She can sometimes look up a little but not very much.  Sometimes she can't look up at all.

Hearing Loss:Until we can get a hearing test done, we won't know if this has gotten better or worse.  If I had to guess, I would say it has stayed the same.