Wednesday, 17 January 2018

January 17, 2018

Hello Everyone!  It hasn't been too long since I last updated but a lot has happened!

We still have not received Katha's adult wheelchair.  After getting measured again and having the test wheelchair for two weeks we got a phone call about a month later that the Occupational Therapist had to confirm that the chair fit.  So, we booked a meeting with her and everything went well.  

A couple of weeks later, we got another call that AADL had decided that we needed to "grow" Katha's current wheelchair.  Which, essentially means to adjust it to it's maximum size.  This wheelchair is still a child's wheelchair, and Katha is now taller than me, not to mention she's 170 pounds!

So, we went back to the store in Red Deer and they confirmed that the wheelchair would not be able to grow to Katha's size.  So, AADL had to approve that.  Then the kind of wheelchair we tested was no longer covered by AADL so they had to find one that was as similar as possible that would be covered.  The good news is, the wheelchair has FINALLY been ordered.  It could still take a few months, but at least it's coming in.

We have Katha's stander and it's amazing!  It keeps her able to stand for exersize to help keep her calves stretched.  With Katha, that is a big deal!  It also has massive wheels so she's able to do things like try to catch her brothers.

In October, we were finally able to start Katha's casting.  We did it for 2 months and Katha hated it.  They were big, and clunky but she got through it.  She was amazing as usual and we now have what are called AFOs.  Which, is essentially a fancy way of saying that Katha has braces on her legs.

She wears them 12 hours every day and it helps to keeps her calves stretched along with the stander.  She was able to pick a patter for them and although she's not a huge fan of them she wears them every day like the warrior princess she is.

Some of the big news is that we are finally going to Calgary for the procedures.  Her doctor did the first lumbar puncture in October and things went very smoothly.  We have returned to Calgary every 2 weeks since then and things have been going well.

The best part is that we come home right after the appointment and Katha is able to sleep in her own bed.  You have never met anyone who loves their own bed as much as Katharina.

Things had been going well in Calgary up to the last appointment.  Unfortunately, that was when our luck run out.  Her doctor poked her 6 times and was still not able to get spinal fluid out.  So, he has decided to bring in radiology to help guide the needle to be able to get into the spot he needs.

This, of course, brought us back to discussions of the port.  He has put in a port for review by the drug company but had heard nothing back.  To make matters harder, he thought he had finally made some headway and the drug company was sold.  So, now we have to start all over at the beginning again.  Hopefully the person who was in charge of making that decision keeps their job with the new company and it will get approved quickly. 

There are other kids with ports for this medication, however, our doctor told us that the ports are meant for veins and not spinal fluid and he has found one that will withstand the medication and is meant for spinal infusions.

So, the reason I decided to update the blog today is because we had kind of a big day.  Due to unforeseen circumstances, Katha's amazing EA has had to quit.  Today was her last day.  So, I made an appointment with the principal and we have decided to take Katha out of school.  I'm sure there will be lots of paperwork to sort out and we'll have a day when Katha will be able to say goodbye to her class but essentially, she's done.  She is thrilled about this decision, it's been a little harder for me.

This wasn't a decision we made lightly.  It was really difficult because it feels like we're giving up.  I know this was a battle we were going to lose eventually but it's still hard to admit defeat.  However, Katha went to school for the first time yesterday in six weeks.  I dropped her off at 11 AM and by the time I got there at 2 PM, she was meeting me at the door and telling me she was too tired to stay any longer.  Apparently, she had been saying that since noon.

Also, the kids she goes to school with this year are not the kids she grew up with.  They are from the year  below her, so she doesn't remember them.  I know she has felt all year like she is going to school with strangers.  Not that the kids haven't been amazing, they have!  They make her feel welcome every time she goes.  It's just that, with the dementia, she just can't find it in herself to get excited about school anymore. 

So, the fact that I have to fight her constantly to go to school when she is there simply to be social was a huge factor in deciding that it's just not worth it anymore.

Well, I think that's it for now, onto the symptoms:

Enlarged liver and spleen:  She had an ultrasound done and I heard nothing so I guess it's the same?

Dysphagia (trouble swallowing):  Katha will choke occasionally but is able to eat by herself still.

Basal Ganglia (holding limbs at awkward positions):  This is what we've been fighting with the casting.  So, obviously, it's bad in her legs.  Her arms are still held at awkward positions frequently.

Dementia (memory loss):  Her dementia seems to be improving.  She now remembers that Jay is a boy and not a baby.  But, that probably has a lot to do with the fact that Jay has found a new love of annoying his older sister whenever possible.  It's amazing to see them interacting because they never really have before.  In fact, when her casts came off, the doctor told me that we would have to tickle her legs to get them desensitized and I knew just the boy for the job!  Jay thoroughly enjoyed his task.

Seizures:  Still none.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This seems to be improving as well.  In fact, at our Simon Christmas we usually have a little program every year.  This year Katha's cousin Emma sang for us and Katha KILLED herself laughing the entire time but not once did she lose consciousness!

Sleep related disorders:  Katha usually gets her days and nights mixed up at least once a week.  She will be unable to sleep until 3 AM then will sleep in until noon.  It usually takes her a couple days to get back on track.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has trouble looking up but is able to do it some days.

Hearing Loss:  Katha still hates her hearing aids and doesn't seem to need them.

Friday, 15 September 2017

September 15, 2017

Hello everybody!  It's been a while since I lasted updated and a lot has happened.  So, May came and went and we are still going to CHOC every two weeks.  There are several reasons for that.  First, we had to get Health Canada's approval to bring the trial here to Canada.  Although, that only took 2 weeks to get approval for. 

Then we had to have the drug company and the doctor agree on everything, which has kept other sites from opening in the past.  However, this didn't seem like much of a hold up.  Both the drug company and our doctor are eager to start the trial in Calgary.

The biggest hold up has been the procedure itself.  Katha has had a hard time from the beginning getting an LP done (I have only learned this in the past couple of months.)  Because Katha isn't as flexible as most kids she isn't able to get in very good positions to get a lumbar puncture.

In California, they have started to do the procedure using an X-ray every time.  However, in order for the doctor in Calgary to do that, he would essentially have to go back to Health Canada and get all new approvals because he would be bringing another doctor into the procedure.

Also, the doctor in Canada wants to put a port into Katha's back to make the whole procedure WAY less evasive and Katha wouldn't need to be sedated at all anymore.  Which would be a huge improvement.  The doctor has already got the drug company to agree to this but the problem we are now facing is that the port that is approved in Canada for children won't work with Cyclodextrin.

So, the doctor is getting a port from Europe approved for use here so that it can be inserted and we can start doing the procedures that way.  The last time I spoke to the doctor, he didn't want to start doing the procedures here until the port is in.  I have convinced him to at least try the LP the same way we did it in California for the first year.  He has agreed to give it a try on October 18th and if he is unable to get it we will go to California, where they will do it by Xray.

We finally have a wheelchair accessible vehicle that we won't have to be worried about breaking down on all the trips we will hopefully be making to Calgary soon.  Amory and I bought a brand new 2016 Dodge Caravan and had it sent out to Winnipeg to get converted for a wheelchair.

We bought the van back in March and were told it would be done in April, then when all the financing was done for the van, they told us they wouldn't be able to pick it up until April, then May.  Then once they did pick it up they said it would take 4 weeks to complete.  When that four weeks was up, they needed another six weeks.  We finally got our converted van in July.  Once we figured out how to get the cans that hold the wheelchair in place out of the way, it works great! It's very loud in the back, but the kids are getting used to it.

Katha has finally received a test chair that fits her.  She was measured for an adult wheelchair back in January.  However, something happened with the company in Red Deer and all of our paperwork as lost.  So, finally in May the Occupational Therapist got involved and they re-measured Katha for a trial chair and told us it would be in in a couple weeks.  When that time was up they told me that all the parts for the wheelchair hadn't come in and they would need until August.

So, we waited until August and were told that the parts had still not come in.  Again, I placed a call to the Occupational Therapist who called the company in Red Deer.  Then, finally just this week, we received the test chair.  We will have it for 2 weeks and it will have to go back to the company in Red Deer so that they can get all the parts that are approved from AADL which should take another two months.

Also, we have recently seen a new doctor at the Children's about Katha's walking.  When Katha walks, she is always on her tiptoes.  After seeing the new doctor we have decided to put casts on Katha's feet to try to stretch the muscles.  Then, after 8 weeks of going every 10 days to put new casts on, Katha will have to wear a brace to keep it from happening again.  We were supposed start that by the end of August but have heard nothing back from the doctor yet as to when that will start.  I should add it on my to-do list!

As you can see, I'm kind of getting frustrated with dealing with companies at the moment.  It feels like I have to be constantly hounding someone to get all of Katha's needs met.

On the last trip we were pulled aside in customs because our passports expire within 6 months of travelling now.  I was expecting this, and it wasn't too big of a deal, but it did take a while longer to get through customs on the way in.  So, when I got home, I finished filling out the paperwork for passport renewals for Amory and I and a new passport for Katha. (16 and under can't just renew their passports for whatever reason). 

I had contacted the drug company and asked if they would be willing to pay to expedite the passports in order to have them for the next trip and they agreed.  After researching online, I discovered I had to take all the documents for our passports into a main office in Calgary or Edmonton to get them expedited.

When I went into the office the lady who check's to make sure you have all your documents told me that we didn't qualify for an "urgent" renewal because we weren't travelling that day or the next.  They told us we do qualify for the "express" renewal and that our passports would be ready for us on Friday.

However, when I got to the window to actually renew my passports the officer told me that they couldn't guarantee that the passports would be ready by Monday and because we weren't travelling until Monday afternoon that I couldn't receive them until Monday morning. After trying to explain to him that it was a medical trip and we need our passports he told me that I should have thought of that before and not made plans before renewing my passport.

I don't know why, but I cracked.  I cried in the middle of the passport office!  The officer's whole demeanour changed.  He told me he would make the passport come in on Thursday, that way if we ran into issues we would  have a couple days to deal with it.  He also told me he has 2 sons with special needs and he knows how stressful travelling with kids with special needs is.

I went on Thursday and got our passports without any problems.  I guess it just goes to show that God has your back even when you feel like all you can do is crack under the pressure.

Katha has been amazing.  Ever since we started getting the procedure done by Xray, they have moved the procedure to the hospital where they sedate her with propofol rather than ketomine like in the clinic.  She is usually good to go the next day, while with ketomine she took until Tuesday or Wednesday to start feeling like herself.  Her speech has been better (which isn't always a good thing with her little Kathatude).

When we went to Montana this year, I honestly thought it would probably be her last year going to my parents time share.  Every other year this has been a big highlight for her and she's excited for weeks in advance.  This year every time I asked her about it, she said she didn't want to go.  Then, not long before the trip, we found out that the condos we were in this year both had stairs to get in. 

However, after a bit of finagling, we found out that one of the condos on the first week had a ramp to the building.  We would still have to figure out the stairs the second week, but we had to go to California for the last half of the week, so surely that wouldn't be too bad.

Well, a few days before leaving Katha finally decided she actually wanted to go.  In fact, she even promised me she would try swimming again.  Swimming used to be one of Katha's favourite things to do but she is afraid of any pool that is anything but completely white on the bottom, which is hard to find, but the indoor pool at the resort is completely white.

So, not only did Katha end up going swimming twice while we were in Montana but she also got up and down the stairs with very little help.  We were amazed!

Since starting school (she went back to Grade 5 at St. Teresa just like we planned) she has been consistently going at least once a week.  Considering by the end of last year she was making it approximately once a month we are ecstatic!

Also, because of the rewards points we have been saving through West Jet and Marriott, I was finally able to book a trip for my mom, my sister and I to New York for January as a thank you for all of their help.  My mom has been crucial for us for the past year and a half.  I'm really excited for a girls trip with two of the most amazing women in my life.

Everyone always comments on how hard it must be for me and Katha doing all the travelling.  I'm telling you right now, I couldn't do anything without my mother.  She has kept the boys for almost every single trip.  The ones she hasn't, she is usually on the trip with Katha and I while Dad takes care of the boys.

I think that's pretty much the end of the update, so onto the symptoms:

Enlarged liver and spleen:  We just had an ultrasound done and have not heard any results, so in true medical form, I'm taking no news as good news.

Dysphagia (trouble swallowing):  Katha will choke periodically on liquids, but it's not really troubling as it doesn't last long.

Basal Ganglia (holding limbs at awkward positions):  This is what caused Katha to walk on her tiptoes.  She also holds her arms with her wrists at odd angles but she can straighten out her arms where she can't with her ankles.

Dementia (memory loss):  There are times where Katha is convinced that Jay is a baby and cannot talk.  She will also think things that happened long ago happened recently.

Seizures:  Still none.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  Katha still loses consciousness for a second when she finds something really funny.

Sleep related disorders:  Katha still has a hard time getting to sleep and is very tired in the morning as a result.  She will often get her days and nights switched.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has a hard time looking up.  Down is still no problem.

Hearing Loss:  Katha has completely given up on her hearing aids.  She doesn't like them and prefers not to wear them at all.  She will take them out and hide them given the opportunity.

Saturday, 18 February 2017

February 18, 2017

Well, our year in Part B of the V-tesse trial is coming to an end quickly.  In fact, we only have 2 more trips in our year.  We have found out that V-tesse recommends that for the beginning of Part C that we continue to go to CHOC for 4 trips.  This is in case she was not getting the medication since we are now guaranteed to get VT270.  If she has an adverse reaction, we will be with doctors who know how she usually reacts to the procedure.

So, that means that our first trip to (hopefully) Calgary will be on May 19th.  We haven't heard much from V-tesse in regards to that other than they are working diligently on getting a trial site open in Alberta.

Katha is still having a lot of trouble walking.  She is almost exclusively in the wheelchair now.  In fact, she has just been measured and we are waiting for an adult wheelchair.  Her current wheelchair is way to small for her.

The procedure is getting more difficult because Katha absolutely dreads it.  The staff have a very hard time finding veins to start Katha's IV.  Which, of course, is the part of the procedure Katha hates the most.  However, after having to poke her 5 times at one procedure they brought in the PIK team.  They use an ultrasound to start an IV and it went much easier.  The last procedure I asked them to just immediately bring in the PIK team and it went much smoother.  If we could just figure out how to make getting the IV in as painless as possible, I think we could get in and out of the procedure just fine.

On our last trip Katha's cousin Emma was able to come with us.  It was amazing!  Katha was excited for a trip for the first time in months.  She laughed so much that I almost think she spent more time unconscious than conscious.  We came back after a day after a day of Disney and I flopped face first down on one bed, and Emma did the same on the other.  We looked over and Katha was face down on the table giggling away.  Partly because she was copying us and partly because she was laughing so hard that her cataplexy caused her to pass out.

When Katha's cataplexy affects her she looks like she's been hypnotised and the hypnotist just said SLEEP.

The long trips have now been extended as well.  They went from being from Tuesday to Saturday to Sunday to Saturday.  Our last long trip will be in the beginning of March.  It will actually fall on Katha's 12th birthday.  Which is pretty spectacular because when Katha was diagnosed that was the birthday the doctors didn't think she would make it to.  So, that, I believe is what VT 270 is doing for us.  It's keeping her stable, it's keeping her here.  Which is amazing.

Katha doesn't have a lot of energy when we are home.  She just wants to be in bed, not necessarily sleeping, just not wasting energy on anything else.  She finally went to school for the first time in 3 weeks on Thursday and then went on Friday as well.  It was a big deal and I was really proud of her because I know it's not easy on her. 

She is also eating us out of house and home!  Katha has spent a lot of time just eating lately but all healthy food.  Yet, we know because they weigh and measure her at every procedure, she hasn't gained any weight.  She has actually lost a little weight.  I believe she is actually taller than me now!

On one trip we decided to go down a little early and go to Universal Studios in Hollywood.  On the Sunday it rained hard.  Harder than they've seen in 4 years and there we were at Universal.  There is one place in Universal called Ollivanders where a wand chooses a person.  The wait to see this little show is usually at least an hour but because of the rain we walked right in.

After you get into the little room they choose one person out of your group of approximately 25 to get a wand.  Of course, they picked Katha.  The wand master picked out one wand and handed it to Katha, told her to say wingardium leviosa and point it at some boxes.  I said the incantation for her and she waved the wand.  The boxes she had pointed at kind of jumped (almost like they were exploding) and I immediately said "Katha, what did you do?!" and of course she giggled.  They handed her another wand and told her to point at some drawers and say alohmora.  This time, she said the incantation herself and waved the wand and the drawers opened and closed by themselves.  The wand master handed her a third wand.  The lights brightened, music started playing and it was amazing.  Katha was so excited to be a wizard.

We left Universal to go to our new hotel that day.  We had to stop at our hotel and pick up our suitcases then drive from Hollywood to Anaheim.  When we got out at our usual hotel it was chaos.  Katha was slowly getting out, Jay ended up falling down and twisting his ankle, my poor friend Jo was trying to get our luggage out while the cab driver yelled at the hotel employees for telling him he was pointed the wrong way.  In all the chaos, we forgot the wand.  We realised later that night and immediately called the cab company who told us that the driver had signed out for the night right after he dropped us off.  So, they would call him as soon as he signed on in the morning and get him to look for the wand.

They called us the next morning to say that the cab driver couldn't find the wand.  I personally think he probably thought he could get a pretty penny for it and decided to keep it.  Katha was heartbroken.

These wands are not cheap but after the whole little show we had to get it for her.  However, spending another $50 on a wand was not something I thought Amory would go for.  So, I decided to email Universal Studios to see if we could get some kind of discount to be able to replace it.

After we got home from that trip, a person from Universal emailed back and they are sending Katha another wand for free.  I haven't told Katha yet but I plan to record her opening it and putting it on their facebook with a big thank you. 

I think that's pretty much it for now.  Onto the symptoms:

Enlarged liver and spleen:  Still the same as far as we know.

Dysarthria (slurred speech):  People tell me that they actually understand Katha better than they used to.  On the plane ride home last time I realised that even when no one is listening I repeat everything Katha is saying so I stopped and we had a really good conversation just the two of us.  Mostly about how much she couldn't wait to get home to hug her brothers but still we talked for probably a half hour straight.

Dysphagia (trouble swallowing):  Katha has begun choking on liquids again but only occasionally.  In fact, during the last trip she was eating beef jerky, strawberries and apple juice and began choking quite badly.  Even while she was gasping for air she was kept eating strawberries until I had to tell her to stop and finish choking before she ate anymore.  (There's a reason I've nicknamed her Crazypants.)

Basal Ganglia (holding limbs at awkward positions): When Katha does walk short distances she needs support.  She holds her arms in such a way that it makes it difficult to hold her up.  She usually has her elbow tucked in with her arm straight out with her wrist bent at an awkward angle.  Plus, when getting measured for her wheelchair the noticed that her calves and ankles are unusually tight and recommended we have someone come in and help teach us how to stretch her out.

Dementia (memory loss):  Katha has no concept of time.  So, it's really hard to tell how bad the dementia is.  She will tell you something that happened 2 weeks ago happened yesterday and she will tell you something that happened today happened years ago.  Plus, she has a hard time keeping things straight.  I just discovered that when she talks about Legoland, she actually means Disneyland.

Seizures:  Still none.

Gelastic Cataplexy (falling down in response to a large emotional outburst): As I mentioned above, she no longer just falls down but completely passes out.  If she is standing or sitting I need to immediately grab her.  The thing I love about her is that it doesn't stop her from laughing.  It scares her and she will often fall but it never even occurs to her not to laugh and when I tell her to stop laughing, it just makes her laugh more.

Sleep related disorders:  Katha still has a very hard time going to sleep and it's not unusual for her to sleep until noon because of it or take small naps during the day.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  She is still doing really well at this.  Although, we still have yet to go to the Tiki room because she has a hard time looking up.  However, she seems to be able to lay on her back much better without vertigo.

Hearing Loss:  Katha still hates her hearing aids but keeps them in for school.  But, since she hardly goes we don't really have to worry about it.  We tried taking them on a trip once and they bugged her so much we were still in the plane getting to LA when she took them out and refused to put them back in.

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.