Wednesday, 13 January 2016

January 13, 2016

Well, first off, I'm going to warn you, this is going to be a long update.

Back in September 2014, my older brother was planning a Disney trip with my parents and his family.  I called my sister-in-law and asked if they would be interested in turning it into a full family vacation so that Katha's cousins would have some great memories of her.  My fear being, she may spend a lot of time on a lot of machines, unable to get out of bed.  I wanted her cousins to have memories of her laughing, smiling, singing, etc.  Anyway, she agreed, I got my sister in on it with her youngest, however, my younger brother and his wife ended up having the cutest baby boy (their fourth boy in fact!) and couldn't join us.

So, on November 1st, we set out for our Disney trip.  It was exactly what I was hoping it would be.  Katha had a great time and so did all the rest of her cousins.  Their were 14 of us together.  Unfortunately, Katha didn't "light up" like she has in the past at Disney trips, but there was a reason for that.

Right before we left, we were supposed to get more medication.  However, it just didn't arrive in time.  Me being the procrastinator I am didn't order it in time.  Therefore, all through the trip we didn't give Katha as much medication as she is suppose to get.  She couldn't really walk and she had a hard time speaking.  However, her cousin Emma kept her laughing and we all had a very good time.

Katha and her cousin Reese waiting in line at Disney World
We got home, got her medication and saw an immediate improvement.  The difference was amazing.

On December 4th, we got a call from the drug company, who has been giving us her medication on compassionate grounds.  They informed us that they were no longer willing to cover the cost of the medication and that we would have to, once again, look for alternate coverage.  After discussing it with our doctor, he recommended we go to the media to hopefully make the government step up and provide coverage through public outrage.

I immediately went on social media and asked people to write to their MLA's.  Someone recommended that I get in contact the Rare Disease Drug Program through Alberta Health Services.  I finally got through to someone who had even heard of the Program and was informed we had already been approved for the Program and shouldn't have a lapse in our coverage.

So, the mystery now is, how did they hear about us?  They immediately asked who our doctor was, so it wasn't through him.  My MLA called at the end of December asking how they could help us get coverage, so it wasn't them and we had to wait for final approval from the Health Minister, so I don't think it was them.  I do know however, that someone else with NPC was approved for the program the same time we were.  So, it's possible they have been working on this for a while, and we just happened to benefit from all of their hard work.

While dealing with the medication I got in contact with a company called Vtesse.  They are doing a drug trial for cyclodextrin right now.  If you have kept up with this blog since the beginning, first of all, bless you, you will remember when Katha was diagnosed I applied to become part of this drug trial then but didn't get in.

Now they are beginning phase 2 of that trial and all of the participants are on Zavesca which is the medication Katha is currently on.  My thinking was that if we signed up to be part of the trial, they may be able to help us find coverage for the Zavesca.  They helped as much as they could, but couldn't cover the Zavesca themselves.  However, what they did help me do was convince our doctor here that the first phase of the trial was a resounding success and we should apply to be part of phase 2.

You see, in the last couple years I have come into contact with a few other NPC families and the opportunity to get Katha on cyclodextrin was made more available to us.  So, I spoke to our doctor here and his concern was that Katha was doing so well on Zavesca (much better than anticipated) that he didn't want to mess with that.  I understood his reasoning and decided to take his advice.

However, he has since changed his mind and is fully supportive of us joining this trial.  We are very excited and have already gone through the first qualification process on the phone and will hear soon about the next process.

The down side to this is there will be a lot of travelling and a lot of time spent away from home.  They did mention that siblings are welcome so today I'm going to talk to the school about doing a half home school, half regular school with the boys so that they might be able to come with us to California where it sounds like we would be spending about half our time.

From what I understand we would stay there for 2 weeks and then be home for 2 weeks before we would have to go back again.  However, the trial pays for all of our travelling expenses.

Some of my other concerns include the boys feeling like they have been left behind or are being dragged around the continent because of Katha.  I really feel like taking them with me would be easier for all of us than trying to find someone who could be here with them both before and after school.  My other main concern is that the medication is administered through a needle in the spine every two weeks.  Katha already doesn't trust doctors aren't going to be poking her constantly and this certainly isn't going to help that.  However, they put her to sleep for the procedure but then the concern becomes, how much stuff are we willing to put into her poor little body.

But, like I said to my mom, we have already had a good few years because of the Zavesca and cyclodextrin is even more promising.  It's worth the risk to get a few more good years and it could help benefit NPC patients for generations.

Also, yesterday I picked up the first batch of Zavesca through the new program.  I honestly believe that if all the people who wrote, phoned and shared that post on facebook helped us to find the new coverage.  I was hoping with this new program that we would never have to worry about her medication again.  However, when I was at the pharmacy I had to sign a paper saying that I was aware that this coverage is short term and no one at the pharmacy could tell me when the coverage was approved until.  They did say usually it's until the patients 18th birthday and if that's the case here, I will be very happy if we make it that far.

So, where does that leave us now?  We will have to figure out what to do with the boys if we are travelling all the time for this trial.  Luckily, my mom is always willing to help.  At her last appointment, Katha's doctor declared her stable because of Zavesca.  I'm not sure what this means for her yet but I agree with the assessment.  Her Zavesca is covered by the government until further notice.  So, that will still be hanging over our heads, but hopefully it will be a bit farther than usual.

Oh, and something I don't think I mentioned before, Dominik has been having some difficulties so his paediatrician recommended that he should be tested for NPC.  It is highly unlikely that he has it and we have been waiting for this test to come back for 2 months already.   We should know by the end of January but he has not really shown any signs of the disease, so we will be shocked if it comes back positive.

When I told Dominik that he is being tested he, of course, was worried.  I told him that even if he does have it and I don't think he does, it could be possible it doesn't affect him until he is a lot older and he could still have a full and happy life.  He seemed okay since then, in fact, I think he has forgotten that we haven't gotten the tests back yet.

As always, I'm astounded for the love and support our family and friends have shown us.   We are so blessed to have everyone in our lives.  I thank God everyday for the grace and love he has shown me through all of you.

I will try to promise that if we get into the trials I will try to keep this blog better updated so there aren't these long posts.  If you have made it this far, you are amazing.  Onto the symptoms:

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech):  Katha is still very difficult to understand and get extremely frustrated with people that can't get what she is saying.  She cries easily because of this.  She, however, loves it when someone slows down to try to understand her.  She loves talking about her brothers and her family.  If you are ever trying to connect with Katha, explain how you know her, she is more likely to remember you then.

Dysphagia (trouble swallowing): Katha chokes on water or other liquids about once a day.  She never has trouble recovering from it, though.  I did notice yesterday that she can stick her tongue out but cannot move it back and forth at all anymore.

Basal Ganglia (holding limbs at awkward positions): This is constant now.  In fact, if you try to get Katha's limbs pulled straight out, they will often crack and you can feel the muscles stretching to get there.  Katha will tell you it hurts too.

Dementia (memory loss):  Like I said above, Katha loves her family.  She especially loves to talk about how everyone is related to each other.  She is finally starting to remember that her 5 year old cousin, Reese (pictured above) is not a baby.  In fact, she remembers the name of her 3 year old cousin now and can even remember the name of her youngest cousin when prompted.  My mom has started calling Katha "my granddaughter" and has since started getting full hugs from Katha with smiles instead of cringes.

Seizures: None that we know of.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  We have been offered medication several times to manage this symptom.  I am trying to keep Katha off anything that we don't think is absolutely necessary.  In fact, one of the side effects of her Zavesca is head aches and we have now started to give her a teaspoon of fruit juice telling her it's children's Tylenol and that often does the trick.  We just know that if she starts laughing, we need to hang onto her.  She is aware of it too and will try to get to a wall or something to hold onto while she's laughing.  We have noticed though that when experiencing Cataplexy, she will often run into walls and such.  I was told yesterday by her neurologist that she shouldn't be losing vision during these episodes.  So, we are unsure why this is happening but we are aware of it and can stop her so she doesn't her herself.

Sleep related disorders: Katha has a hard time getting to sleep.  In fact, she's been telling me for months that there's no school on Monday's for her.  Because Monday is early dismissal day at her school and she generally sleeps in on Mondays, we are going to let her stay home on Monday's from now on.  Unless she's up really early.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Just when I think she can't do something anymore, she starts doing it just to prove me wrong.  Katha has started looking up again.  In fact, while we were in Florida, we went back to Give Kids the World and saw Katha's star.  She even made an attempt to look up to see it.

Edit:  I have spoken with the school and they are willing to work with us.  The kids would essentially be in half home school, half regular school.