Friday, 8 July 2016

July 8, 2016

So, we just returned (almost a week ago) from week 16 of the trial at CHOC.  So much has happened since we started the trial.

Katha now has hearing aids and she hates them.  She hardly ever wears them but will wear them all day for school.

Because I went through what the first infusion was like, I will go through what the latest infusion was like.

When we arrive they immediately know who we are.  Katha will volunteer to get her bracelet on and will laugh through getting weighed, measured and her blood pressure.  She will cringe when she gets her temperature done but that's about it.

Last time we went they had her oral medication ready.  She took it a half and hour before she got into the room where the infusion happens.  By the time we got into the room, she was almost already asleep.

She barely pulled her arm away for the I.V. and when I went to leave she tried to wave as I was leaving.

15 minutes later they came and got me.  She was already awake when I came back in and stayed that way while she had to lay down for a half an hour.

As soon as her half an hour was done she got up and we caught a taxi back to the hotel where she quickly went to sleep for a couple of hours.

She woke up at 4 and had fruit and a couple of buns then went back to sleep for another couple hours.

At 6 she woke up to have a bit more fruit but when she started to eat she started to cry and say her back hurt.  But, as soon as she laid back down she was fine and went to sleep until morning.

Katha isn't doing as well as we had hoped on the medication, honestly.  She is still really hard to understand, she is very unstable on her feet and her memory is really bad.  She is in a wheelchair almost full time now and looses energy very quickly.  I don't honestly know if she's getting a placebo or if the sedation is taking such a toll on her body that it's masking the effects of the medication.

Then, about a month ago the drug company running the trial sent everyone a notice that the budget needs to be cut, which means our travel expenses need to be cut.  The new rules state that only the patient and a caregiver can go on the trips.  There will only be one night in a hotel allowed and food budget will be cut from $75/person/day prepaid to $40/person/day reimbursed.  However, they are willing to make exception on a patient to patient basis for extenuating circumstances.

So, we have already been approved to stay 2 nights in a hotel for short trips, we are easily managing to stay under the $40/person/day budget.  However, we are still fighting to have all 5 of us go on the trips.  When we signed up for the trial I made sure that they knew I was unwilling to be a part of the trial if I constantly had to leave the boys at home.  They are considering this but we have not heard yet whether or not they will be willing to make an exception for us.

If they are not (it's decided by a counsel) we will be withdrawing from the trial and hope that if this happens they will reconsider us for the trial if and when they start a site in Alberta.  I really hope it doesn't come down to that but with Katha's already limited time, I'm not willing to separate my kids that much.  Plus, I need another person along because with my back, one wrong turn and I'm back to using a walker to get around.

So, here's where we stand with symptoms:

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech): Katha is very hard to understand.  There are days where I can't understand a lot of what she says.  On the other hand, on her good days, she's witty and uses large words and will talk to anyone and everyone.  The last trip to CHOC she had a bunch of assessments and was telling the doctor about her cousin Kaylee that was with us on the trip.  Then she proceeded to talk about cousin Emma and how I always say "oh, my God, Emma!"  I responded that I don't and she told me that I do and that I need to "be more responsible."  She then proceeded to tell the doctors how annoying her brother are and how I am always screaming at them.  She kept all of us in the room laughing the entire checkup.

Dysphagia (trouble swallowing):  Katha's swallowing continues to do really well.  She still rarely chokes since starting the new mediation.

Basal Ganglia (holding limbs at awkward positions): This is consistent for Katha now.  When she walks, she walks on her tip toes.

Dementia (memory loss):  Katha is often very confused.  It took a full day to convince her that she's now in Grade 5 and only accepted it when I promised her a new pencil box.  She has to be reminded every day that she doesn't have school and she's starting to lose what day of the week it is.  Which, is really sad because it's the one thing she ALWAYS knew.

Seizures:  Still none.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  Katha now appears to lose consciousness when she laughs.  For a brief second she looks like she falls asleep but her body bounces because she continues to laugh even though she's not smiling.  We went to see Finding Dory yesterday and she was laughing so hard she lost consciousness.  I think this is hilarious to watch but others seem to be quite upset when it happens.  Katha (like me) doesn't seem to be bothered by it in the slightest.

Sleep related disorders:  Katha spends more time asleep than awake.  When we go anywhere she wants nothing more than to go home back to her own bed.  The nice thing about it being summer is that there is no problem with her not waking up until 11.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha is still looking up really well.  Better than I have seen her do in years.

Hearing Loss: Like I said, she hates the new hearing aids.  She has been to the doctor several times to make sure they are not too loud and the doctor reassures me that they are actually a little quiet for her.  She spends most of her time watching tv with little to no volume and doesn't seem to have a problem hearing what's going on in the house.  We don't even usually have to call her for supper because she is already out at the table by the time we would call her. 

Saturday, 2 April 2016

April 2, 2016

We have now gotten 2 doses of cyclodextrin (hopefully).  I say that because we don't know for sure that she is getting the medication.  But, I thought I would write about the progress we have seen in Katha because if we are not getting the medication, it's the best placebo ever!

On our first official trip to get medication there were a bunch of tests to do.  Also, we got a regular hearing test done.  We will have to repeat the regular hearing test for the next few trips, every visit.

The first trip we were further away from the hospital because of some natural products convention in Anaheim.  Both Mom and I were extremely nervous the morning of the lumbar puncture.

Katha and I went to the hospital while Mom and the boys went to Knott's Berry Farm.  We found a taxi driver we really liked and have called him for almost every taxi ride we've needed since.  That morning, the taxi driver was amazing.  He made small talk and put on some calming music.

We arrived at the hospital and went to the clinic (the hospital has about 8 buildings and covers a city block, I'm sure!) where we were shown where we would go to get the infusions.

The minute the nurse called us Katha started screaming and crying.  She was so nervous and I'm sure it was just because I was so nervous that she was feeding off of my energy.  She cried through getting weighed and measured.  Then she screamed when they showed us into the room where the procedure would get done.

She refused to move from her wheelchair onto the bed and whenever someone came in and said "hi, I'm Doctor . . .", she would scream "GET OUT!"

I have never seen Katha that upset but they gave her a medicine to help her calm down and start going to sleep and I grabbed her and got her into bed before she had much time to think about it.

Then they started the I.V.  She was flipping out and this poor lady was trying so hard to keep her distracted with an I pad and Katha just wanted to keep an eye on what the people with the needle were doing to her.

They finally got her to sleep and I had to leave the room because I can't know if she's getting the medication or not.  I went and sat in the waiting room where I could see the procedure room.  Not long after one of the doctors came by and chatted with me about a convention he had just been at where he had the opportunity to speak with several people involved with the first part of the trial and some of the results that had been seen so far with cyclodextrin.  He ran up to his office to get a power point presentation on hearing loss where he would be able to show me what Katha hears like now.

While he was gone they called me back into the room.  The procedure was over and Katha was fine.

I walked into the room and Katha was completely out.  The doctors said she did fine and that she would probably be tired for a few hours.  They expected that she should start waking up any moment and we could go back to the hotel.

So, we waited and waited but Katha didn't stir.  It wasn't until the nurse started taking the I.V. out that Katha showed any signs of waking up.  I knew from the previous week that I can't rush Katha out of sedation because she will fall out of her wheelchair.  So, we waited until she was able to sit up and started heading back to the hotel.  On the way out the nurse handed me some home care instructions.  The taxi driver was fantastic again and had the wheelchair put away in the back while I carried Katha into the taxi.  He didn't try to help with Katha which is perfect because it would have just upset her.

We got back to the hotel room where Katha sat up and ate something. Then, she went to sleep.

While I was sitting there with nothing to do I read the home care instructions:

Call 911 immediately if your child:

- Seems tired in 5 to 6 hours
- Has difficulty waking up
- Gets nauseous or vomits
- Turns blue or grey

So, she had sedation at 11.  I gave her a few sips of apple juice and let her sleep.  Around 6 we started talking about going for supper.  So, I went to wake up Katha.  She would stir for a second and go back to sleep.  So, I sat her up and she would fall asleep on my shoulder.  Then she vomited.  So, I think back to the home care instructions.  She's not having trouble breathing and doesn't seem distressed so I'm not to worried.  So, I call the nurse that I have the number of.  She decides to call the doctor who did the lumbar puncture.  She calls me back a minute later saying she can't get a hold of the doctor so I'd better call 911.

So, I call 911 who, after talking to for a few minutes, says she will send out some fire fighters to assess her.  2 minutes later 8 people, a fire truck and an ambulance show up at our hotel.  Just as they walk in the doctor calls and tells us that Katha had double sedation and she's fine.

The very nice EMS people check Katha's vitals and confirm that she is fine and have me sign a form saying I chose to stay rather than go to the hospital and that the doctor would check up on us in a few hours.

Then I started worrying about whether or not we would be able to get on the plane the next morning.  So, I'm trying to get a hold of my drug company contact to ask the procedure if we need to stay longer.

I got very little sleep that night and Katha started to sleep like her normal self around 6 A.M.  She woke up drowsy but awake around 7.  She was tired the entire day but never slept.  She was also very unsteady on her feet and could barely walk but we got on the plane just fine.  As we got ready though, both Mom and I noticed how incredibly clear she was speaking. 

It wasn't until we were home and I was watching her talk that I realised that she was moving her tongue more!  By Sunday she was pretty steady on her feet.

On Tuesday she went to school and her EA got her to write her name in a little box when before she had trouble writing her name on a whole page.

During the week we also noticed that she sits up straighter, not as irritable and was able to communicate with strangers.  However, by Friday she was becoming harder to understand again.

So, we set off the next Wednesday for our 2nd infusion.  She got her hearing test with much less crying on Thursday and on Friday they found a My Little Pony hide and seek book which totally distracted Katha and made everything much smoother.

When I got back into the room Katha was awake but went to sleep pretty quickly.  The doctor mentioned they gave her the same amount of sedation as last time so that we should expect the same amount of sleepiness as last week.  However, before we left the nurse checked the records and found she didn't receive the double dose of sedation this time.

Katha was much more alert afterwards this time.  She had approximately a 2 hour nap but other than that was awake the rest of the day.  Around 6 o'clock she ended up getting really sick while I was downstairs with the boys getting supper.  My mom was a champ and had it all dealt with before I even got back.

So, after this long update I'm happy to start the list of symptoms to explain just how much better she is in almost every regard:

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech):  Katha is being understood by strangers!  She also is able to communicate much more clearly her thought processes and she's talking more about the world around her.  The difference is amazing.  Strangers don't get everything she is saying but enough to figure out what she is trying to say.  I get probably close to 90% of what Katha is saying.

Dysphagia (trouble swallowing):  Katha hasn't choked at all really since starting her medication.

Basal Ganglia (holding limbs at awkward positions):  Katha does this when walking but that's about it.

Dementia (memory loss): Katha still has a lot of memory loss.  She keeps saying her birthday is on Monday.  I keep having to tell her that she already had her birthday but it was indeed on a Monday.  She also keeps thinking it's December.

Seizures:  Still none.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This symptom is still prominent but not nearly as consistent as it used to be.  She can laugh for a few seconds now before it kicks in.

Sleep related disorders:  Katha is tired a lot.  I don't know if the sedation is reeking havoc on her system or what but Katha hasn't gotten up before 9 in a month.  However, prior to starting the medication if she happened to roll onto her back while sleeping she would be sick all the next day because of Vertigo.  Katha has been sleeping on her back recently without getting sick.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha looks up.  I won't say it's without difficulty but she definitely looks up now.

Hearing Loss: Katha has been measured for hearing aids and should be getting her new pink and purple hearing aids in 2 weeks.  She was able to have her ears molded without crying and personally answering all of the doctors questions.

Monday, 29 February 2016

February 29, 2016 (Rare Disease Day)

So, our lives have just changed again.  This is going to get complicated but bare with me.

The last time our medication was cut off I got a hold of an incredible woman who works for an awesome company.  They are doing a trial with a new drug for NPC called cyclodextrin.  The reason I tried calling her was to see if she could somehow get us covered for Zavesca.

Back when Katha was first diagnosed some of you will remember that I tried to get her into a trial in Maryland to receive a new medication (cyclodextrin).  Afterwards, I briefly looked at trying to get her cyclodextrin privately but our doctor felt she was doing so well on Zavesca we shouldn't change anything.  I could see his point so agreed with him.

Since then the trial has been going for 2 years and has been picked up by a private company and most of their patients were on both Zavesca and cyclodextrin.  I thought maybe if Katha joined their trial they would be able to provide both medications.

Alas, I was wrong, they were not able to provide Katha with Zavesca.  What they were able to do was convince our doctor that phase 1 of the trial had gone well and they were about to start phase 2 and were looking for people to become part of it.

Our lives have been a whirlwind since then.  We signed up to try to become part of the trial again.  We did at least 2 different phone interviews.  Then on February 22nd we were flown out to California to do some tests to see if Katha qualified for the trial.

We got there and saw a bunch of different doctors and had a whole bunch of tests done.  One of the tests was a hearing test.  I was not suppose to know any of the results.  But, when something is wrong they do tell you.  Well, Katha's hearing test came back and showed that she needs hearing aids.  This shocked me because Katha has only ever complained when things were too loud and always seemed to hear you. 

The doctor told us that she can hear normal conversation like we are whispering and probably doesn't hear much background noise.  So, we have started to work on getting her hearing aids.

I was worried because I thought this might exclude us from the trial.

However, we heard back today and we are in.  This means we have to go to California every 2 weeks for a few days.  There Katha will receive this new medication through a lumbar puncture.

Our first appointment is March 9th through the 12th.  We are so excited to start this new journey and are hoping for fantastic results. 

So far, the biggest side effect has been hearing loss and since we now know that the disease has already taken Katha down that path, we are eagerly awaiting to see what this new medication can do for Katha.

There is a chance she will get a placebo but it is small and after a year we are guaranteed the medication.  Which is much more than we are getting at this point. 

So, onto the symptoms:

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech):  Katha cannot be understood most of the time from people who do not know her.  However, now that we know of the hearing loss, this may be affecting her speech as well.  It will be interesting to see if her speech improves when we are able to get her hearing aids.

Dysphagia (trouble swallowing):  Katha still chokes on water but still recovers by herself.

Basal Ganglia (holding limbs at awkward positions):  Katha cries when you try to straighten out her limbs.  This is caused by a tightening in her muscles that is very consistent.

Dementia (memory loss):  Katha tries really hard to remember what she can.  Obviously she slips.  We just spent a week in California and I don't think she remembers a lot of it.  But, honestly, that might be a good thing.

Seizures: None that we know of.

Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha's balance is bad at the best of times.  When she laughs, she pretty much guaranteed to fall down.  It's just a matter of being prepared for it.  One thing I love about Katha is that this symptom doesn't stop her from laughing.  If anything she just wants to laugh some more.

Sleep related disorders:  Katha still has a hard time going to sleep.  However, they had to put her to sleep for one of her tests and in the past the medications they have given her for this made her wired and they when she did fall asleep she would get sick.  So, the doctor suggested that she try Benadryl to if that made her drowsy.  We tried it and it was the best night's sleep Katha has ever had.

 Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has trouble looking up.  When you try to get her to look at she will tell you that she can't see.

Hearing Loss:  Hearing is measured Normal, Slight Hearing Loss, Mild, Hearing loss, Moderate, Moderately Severe, Severe and Profound.  Katha currently has moderate hearing loss.

I'm sorry if this is confusing.

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.