September 28, 2024

 So, this will probably be my final update.  Also, it will talk of the passing of Katharina and the steps she went through so if you don't want to read about that, please feel free to skip this entry.

On Sunday Katha's specialist stopped by to check on Katha.  He said her heart was steady but weak and he was afraid that she would start having seizures.  He wanted to make sure we had medication if that happened.  He also felt like we had a few days to a few weeks left.  Definitely not a month.

After he left Amory's parents and niece came to stay a few days and say goodbye to Katha.  Rosie, who is 2 years old was very interested in Katha and why she slept all the time but we tried to keep her out of Katha's room as much as possible.

Katha's eyes were very dry because of the dehydration, so Amory ran out to get eye drops and we applied them and they seemed much better.  Also, her lips were very dry so we would take the sponges on a lollipop stick and put apple juice or water around her lips.  

On Monday we got something for Katha's lips because she hadn't drank anything in days and was so dehydrated.  Anytime I tried to put something on her lips she would open her mouth as if she wanted to drink it.  So, thinking I could moisten her tongue as well, I put the sponge into her mouth and she chomped down on it.  My first instinct was to pull it out but I ended up with just the stick, the sponge was still in her mouth!  I got her mouth open and I tried to sweep her mouth like I had been taught when she was choking.  But, she clamped down on my finger and almost took the tip of it! She was definitely still fighting.

On Monday afternoon, I ran out to get Jay from volleyball practice and get a couple things from the drug store.

When I got home, we had a house full of visitors.  One of whom was an old homecare worker of Katha's.  She had the best stories of Katha and definitely brought a lot of cheer into the home.

After everyone left and the in-laws and I were about to go to bed, Katha started breathing funny and was no longer responding at all.

Her breaths came out in little puffs, and when I called Amory in, he rested his hand on her stomach and could feel her heart beat, strong and fast.  In fact, when we pulled back her covers, you could even see her heartbeat.

I immediately called my mom and told her that I thought that Katha could pass away in the night.  She started getting ready to come over.  

Less than an hour later, I noticed a dear friend who has helped me so much was up (she is a nurse and a mom of a kid with special needs, not to mention an angel on earth!) and I asked her if I should call homecare. She said she was driving by and would drop in.

She came in, took one look at Katha and told us she is entering the final stages of life.  She then proceeded to tell me what I could expect step by step as Katha's time came to a close.  

When mom got there we sat for a few hours with Katha and she started slightly responding again.  Because Katha doesn't know the meaning of the word quit, mom said she would stay up with her while I got a couple of hours of sleep.

I slept until 7 the next morning and went and checked on Katha.  When I left her breathing was very loud and when I came back you could hardly hear it.  I told the boys that I didn't think Katha would make it through the day and that they were welcome to stay home.  They both chose to go to school.

As the day went on, Katha's breathing got more and more quiet and shallow as well as her heartbeat got slower.

I tried to move Katha legs into a more comfortable position but she was too close to the end of the bed so I asked Amory to move her up in the bed.  

After he did, a couple minutes later, she started gulping air, which we were told would be one of the final steps before she left us.  I got my mom to quickly call my sister and my niece who wanted to be there and Amory called the boys to come home and Amory's dad went to pick them up.

Then, with Amory, my mother and I all surrounding her and loving her, she winced a few times and was gone.

My sister came in a few minutes later, followed by my niece a few minutes after that.

Dom and Jay came and saw her but didn't really feel comfortable so they went downstairs pretty quickly.

A nurse came and confirmed she was gone, then the funeral home came and took her body.

It's hard to remember everything, and I'm sure I've missed several details, but that is pretty much Katha's last moments.

I just want to thank everyone for their outpouring of love.  We never truly realized the community we have behind us and we have been so touched.

Life without taking care of Katha is going to be a huge adjustment.  Amory and I keep catching one another going to check on her.

We are so thankful she is in a place where she will be able to laugh, sing, shake her booty and tell stories again.

We have a funeral mass planned for November 1st at 1 PM at St. Mary's Church and a celebration of life planned for 3:30 PM at Alix Hall.  If you can make it, we would love for you to join us. This may still change but it is the tentative plan.

Thank you again to everyone for all the love, prayers and hugs that have been sent our way.  It is very humbling.

Sending my love to you all, and in Katha's language "Na-Foo" which she said instead of I love you because it was the sound of blowing a kiss.

September 22, 2024

 Hi Everyone!

I didn't expect to update so soon, but things are happening fast now.

Last Monday I contacted Katha's specialist.  I told them how little she is eating and drinking.  They recommended that I take her back to ER with a letter from them explaining the situation.  I informed them that we would like Katha to pass at home.  So, they sent an urgent referral for a palliative team to come to our home.  They were also worried that Katha wouldn't make it through the night.

I had some friends come over that night and while we were talking Katha tried to get out of bed and walk.  She took a pretty nasty spill but didn't react at all.  There was no crying or yelling, she just sat there and waited for us to pick her up.  That was the first time I believed she wasn't in pain at all.

On Tuesday the palliative team came in.  They gave us a bunch of information but couldn't do much for us.  The most important thing they did was make it legal for Katha to pass at home and for us to be able to contact a funeral home rather than EMS when she does pass.

On Wednesday we found a funeral home that we liked and contacted them and they are on call for when Katha passes.  We also called a priest to do her last rites.  Katha was sitting at the table when the priest came in with food sitting in front of her.  So, when we started we took all the food and the drink away as well as taking off her bib.  When we bowed our heads to pray she pulled a piece of bacon out!  I spent the rest of this time that should have been very sad trying not to burst out laughing.  It was just so Katha. However, she started gagging at just the thought of eating.  She would put food up to her lips and gag without ever putting anything in her mouth.

The aide Katha had for years in school also came on Wednesday for a visit.  As soon as she went into Katha's room, Katha's eyes lit up and she immediately put her arms out for a hug!  Katha giving an uninitiated hug is unheard of, I cried.

On Thursday Katha tried to walk again so we had to put the rail back on her bed to make sure she stays in it!

On Friday we had some sippy cups that Katha can use in her bed delivered so she can just constantly suck on the sippy cup because she hadn't drank in a couple days.  We also decided to stop giving her insulin at all.

Saturday I was pretty scared would be her last day because she hadn't drank anything and her blood sugar was getting really low.  It occurred to me that if she has a low, there is no way for us to get any sugar into her.  Jay also had his first high school volleyball tournament and I wanted to be there for her.

Saturday morning her blood sugar was at 10 (normal is between 4 and 8) and I could watch her on video so I decided to go to the tournament and she was fine all day.  In fact, she drank two glasses of water (which totaled about 8 oz. of water)!  I still called her doctor for advice on whether or not we should give her medicine if her sugar gets low.  He advised that we should simply because watching her having seizures would be harder on us than it needs to be.

We tried giving her chocolate milk in her sippy cup just to help keep her blood sugars up and she refused to drink it.

Last night her glucose alarm went off at 5 in the morning and I jumped out of bed to see what was wrong.  She was having a high and was at 15!  Then, when I woke up at 8:30, I went to check on her and she was at 22.

What I have learned over the past week is that Katha survivors instinct is strong.  We have to watch her like a hawk.  I have had to tell her to get back into bed several times.  She smiles at me when she does something that she would get in trouble for normally.

I have decided to write down some of her progress in the same manner I wrote her symptoms.  This part may be a lot harder to read so please feel free to stop reading here.

Weight:  Katha has lost about 100 pounds now.  Her bones protrude and the port that we use to have to search for now sticks out and you can see the entire thing.

Lips: Katha's lips are so dry they are bleeding.  My friend gave us some ideas how to keep them moisturized so that she can be more comfortable

Skin: Katha bruises so easily.  I'm scared when changing her because the slightest touch causes bruising.  She also get sores really easily.  The skin on her feet was peeling off but the nurse told me to put some vaseline and socks and her feet and that cleared it right up.  Her pressure ulcer had healed really well.

Eyes:  Her eyes are blood shot and dry.  She keeps having goop come out of them.  They have also sunken in quite a bit.

Breathing: Katha's breathing is very shallow.  I often have a hard time telling if she is still breathing

Comprehension:  Katha is with it.  She still understands what is happening around her even if she can't communicate at all.  She still tries to help me while I change her.

Fingernails: Her nail beds are just a little bit blue.

I can't think of anything else for now but will add more next time if I do.

September 15, 2024

 So, when I first started this blog it was because I had a lot of questions after Katha was diagnosed.  I went to the internet for answers.  My biggest question was what is our journey going to look like?

What I found was a lot of medical sites but not a lot of personal experiences.  So, I figured I would start a blog that could keep all of my loved ones updated while hopefully giving another parent some answers they were looking for.

Mostly, I wanted to know what the end is going to look like.

Well, in this latest update, we're experiencing what I wanted to know about at the beginning.

For months now, Katha has not been eating or drinking a lot.  Currently, she has a couple of bites of food a day, if any food at all.  She also has about 10 oz. of fluid.

Katha's weight has dropped significantly.  At Katha's highest weight she was just over 200 pounds.  Currently, Amory and I guess she's around 120 pounds.  Her bones are sticking out and I can lift her again.

I believe Katha's blood platelets are low causing her to bleed and bruise easily.  

She is getting pressure ulcers from the way she sits.  We went to the hospital for this a couple weeks ago because I was worried it was infected.  It wasn't and the doctor informed us that it would heal by itself.

Katha is tired all of the time.  She still gets out of bed every single day.  Mostly, I think because she is too stubborn to stay in bed.  She gets up between 1 and 4, usually, falling asleep at the table by 8 and can be convinced to go to bed around 10.

She has also started to have absence seizures.  When most people think of seizures, they think of falling on the floor and flopping around.  That's not what happens to Katha.  She spaces out and it looks just like when anyone spaces out.  However, when you call her name and touch her, she doesn't "come back".  It usually lasts 2 or 3 minutes.  One night, while I was putting her to bed, she had an absence seizure and I noticed I couldn't hear her breathe.  So, I put my ear to her chest and I still couldn't hear her breathe.  As I lifted my head she started breathing again and looking around, then she fell asleep.  I was so worried she wouldn't be breathing the next morning but she continues to be the warrior princess I know her to be.

Dom and I were discussing Katha and he was saying he just wants one more Christmas with her.  I'm not convinced she will make it to Christmas so, this weekend, we are going to set up the tree.  I figured, why wait?

I don't know when I'll be able to update next, it's emotionally difficult right now but I do want to record this as it happens so that I remember everything.  I also know, it's awkward to know what to say during a time like this so I have a request.  Please, feel free to message me on facebook with some memories you have of Katha or favorite stories of her or a way she has touched your life.  I'm finding myself very sentimental and it's helping to remember the good times.

Thank you everyone for your continued support I truly love and appreciate all of you.  Onto the symptoms:

Enlarged liver and spleen: They are large but not overly.

Dysphagia:  I believe this is part of the reason Katha doesn't eat.  She chokes on everything, and badly.  It freaks people out when they are around her.  I think she's partially scared to eat because the choking is so bad.

Basal Ganglia (holding limbs in awkward positions): Whenever I wash Katha's hand I have to pull them straight and it's stiff and sore.  

Dementia:  Katha shows a lot of signs of dementia now.  About a month ago she was sitting on the toilet watching me go about my business.  I looked at her and suddenly a look of recognition came across her face.  I believe that she actually forgot who I was for a minutes.  But, being completely non-verbal now, it's hard to know for sure.

Seizures: As stated above, Katha has absence seizures.  The frequency, I would say, is every few days.  Which, for a person who has seizures is still quite rarely.

Gelatstic Cataplexy (falling down in response to a large emotional outburst): When Katha passes out now, it lasts about 45 to 60 seconds.  Her breathing can get really shallow during these spells.  

Sleep related disorders:  Katha sleeps on and off most the time.  She always seems tired but refuses to stay in bed.

Hearing Loss: I haven't noticed any significant change but again, with her being non-verbal, it's difficult to assess this.

Diabetes:  Katha has been on 2 types of insulin since her diabetes diagnosis.  Fast acting insulin is for when she eating and helps control her blood sugar quickly.  Long lasting is for keeping her blood sugar stable consistently.  Katha hasn't had any fast-acting insulin in a few days.  We also try to keep her blood sugar slightly high because we often can't get her to eat or drink anything and lows can be quite dangerous.

January 26, 2024

 Hello, folks!  It's only been 3 years since I last updated.  I am so sorry for those who have been wondering how Katha has been.

Katha has been doing spectacular!  She has deteriorated, she has almost no weight baring abilities at all anymore and she is almost completely non-verbal.  In fact, I have said in the past that she is the most communicative non-verbal person you'll ever meet.

We usually have to communicate with by giving her two options and holding out a hand when giving her options.  Then, she will pick a hand.  For example we will say "Katha, do you want to watch netflix (and put our left hand in front of her face) or Disney (and put our right hand in front of her face).  Then she will touch either our left or right hand.

She also will still say things but only when she's really upset and it usually is just a yes or a no.

Katha spends all of her time in bed or at the kitchen table watching shows (most of the time The Little Mermaid in every form it comes in).  When we leave the house she almost immediately falls asleep in the van and is very tired the next day.  So, we try to limit outings to essential appointments.

For the past 2 months Katha hasn't eaten more than a meal a day.  In fact, 3 days ago she ate the same plate of food for 13 hours.  She likes to graze the food we give her and would rather drink most of her nutrition in the form of chocolate milk.  The last time I updated the blog we had decided to not have a g-tube put in (which would be a tube directly to her stomach that we would put formula in).  We wanted her to be able to enjoy whatever time she has left.  

Because she has been doing so well but has seemingly lost interest in food, we spoke with her doctor about re-visiting the idea of putting in a g-tube.  He said that because she has definitely deteriorated (she has a hard time holding up her own head now) that no surgeon would be willing to do the procedure to put in the g-tube anymore.  It was honestly a relief to hear this because it took the decision out of our hands.

As I briefly mentioned above Katha is having some trouble holding up her head.  We are waiting for a new wheelchair that has the ability to tilt and with a head support.  This would not only shift her weight in her chair so that she does not get bed sores but would help with her having to hold her own head all the time.

We have also been through several home care workers now.  In fact, we haven't had any kind of in home support since August.  We have a new worker coming on Monday, so we are very excited about that.  Well, I am.  Katha isn't great with strangers, hopefully she'll like this one.

Other than that Katha is doing really well, she still chokes a lot so we have to look out for her aspirating which could cause pneumonia which the doctor is worried she wouldn't recover from but all of her organs are still in really good condition.  Also, she can still move her limbs fairly freely rather than them being stiff which for how progressed her disease is is amazing.

 She still eats by herself and mostly refuses to let anyone help.  She tries very hard to be as independent as possible.

 Since I last updated Katha turned 18 (almost 19 now!) so, technically, she did it.  She survived a fatal childhood disease.  We are so blessed to have her and all of her Kathatude.

 Onto the symptoms:

Enlarged Liver and Spleen: They are still large but are not to the point that they are troublesome.

Dysphagia (trouble swallowing):  It's bad, she chokes several times a day but is always able to recover herself.  She scares other people but we as a family have a gotten used to it.

Basal Ganglia (holding limbs in awkward positions): Katha has almost no small motor skills anymore.  She cannot walk and her feet turn in.  Her legs get tangled and her feet hurt to stand on.

Dementia (memory loss): Katha doesn't have much use for memory.  The other day she was having a really good day and said she wanted to go outside (it was -50 degrees out) I said she was crazy and it was too cold.  She replied that she was cold and I asked if she meant she was hungry and she said yes.  So, I think if she could communicate more clearly that the dementia would be quite advanced.

Seizures:  Katha did have one seizure last year.  It lasted 15 minutes which for a seizure is a really long time.  We went to see a neurologist who told us it was a focal seizure and not something we really had to worry about.  She has not had any other seizures since then so it is being viewed as a fluke.

Gelastic Cataplexy (falling down in response to a large emotional outburst): This happens every time Katha finds something funny.  In fact, she doesn't even usually have time to laugh before it happens anymore.  Now it looks like she faints for 10 to 30 seconds and then regains consciousness.  It is also not unusual for her to stop breathing for these episodes so we try not to trigger them to often but it can be difficult.  She is a very funny girl and she finds her mom quite hilarious!

Sleep related disorders: Katha still has weird sleep schedules.  Right now, she usually goes to bed between midnight and 3 AM then doesn't get up until 11 to 1 PM.  During the night she will wake several times, turn on her tv and then go back to sleep. We still encourage Katha to sleep as much as possible to avoid seizures.

Hearing Loss: It is still hard to believe that Katha has any hearing loss because quite often she will tell a silent room to be quiet.

Diabetes:  Katha has type one diabetes which can be quite difficult to control.  We have an endocrinologist who is very strict.  Katha has never showed any symptoms with high or low blood sugar and would often have lows during the night that didn't seem to affect her at all.  The new endocrinologist was quite worried about these lows so we have to make sure Katha goes to bed with high blood sugar to guarantee she won't have any lows before she's ready to get up.  

April 15, 2021

 So, today we had Katha's yearly check up.  As expected, we decided it was best to stop her medications.  The only medication she has now is her fast acting and long lasting insulin
plus an anti-nausea medication for her vertigo which she rarely takes.

The doctor wanted to know what we wanted to do if Katha starts having seizures.  He helped us decide that we only wanted to make her comfortable if that happens.  We pray that she will remain seizure free her whole life but she is deteriorating and it is a distinct possibility.  

He mentioned that he doesn't think that seizures will be a life ending incident but pneumonia from her choking. 

Speaking of choking, Katha now chokes at every meal, sometimes to the point of vomiting.  However, she is still able to eat unassisted and that includes assistance when choking.

Katha is no longer able to walk at all, she trips over her own feet.  If she has aid (either holding on to something or someone) she is able to stand by herself but can no longer move forward.

She also sleeps approximately 18 hours a day, waking only to eat, then go back to bed.

But, as the doctor said today, she's happy.  She sings, she laughs, she bosses her brothers around.  She's happy and that is our only goal anymore.  Although it's harder to understand her, she seems very content.

Onto the symptoms:

Enlarged liver and spleen: Apparently, they are quite large but the doctor doesn't seem concerned about this anymore.

Dysphagia (trouble swallowing): Getting worse and will continue that way.  The doctor figures she already aspirating into her lungs, it just a matter of time before she starts getting pneumonia

 Basal Ganglia (holding limbs at awkward positions):  Katha can no longer walk and has a hard time holding things because of the awkward position of her feet and hands.

Dementia (memory loss): Katha keep reverting.  She likes movies and shows she liked years ago.  She has trouble remembering much but there isn't much she needs to remember.

Seizures:  She still hasn't had a seizure.  We hope that this continues.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  The doctor offered us medication to help control this.  We decided against it.  As long as we're careful to let her breathe when she has these episodes they don't seem to bother her.  Just like everything else, she has just learned to deal with it, because she's amazing like that.

February 13, 2021

 So, a lot has happened in the last few months.

We decided not to get a g-tube for Katha and just let her enjoy the time she has left.  Since the government doesn't know yet that Katha has deteriorated, they have not cut her off of her medication, Zavesca.  There is a good chance they will still cut us off in March when she has her yearly check-up and have to renew her prescription for it.

Then, a few weeks ago the drug company of Katha's other drug (VTS-270) announced that the risk to reward ratio is not good enough for this drug so are discontinuing the drug.  We have until October before they cut us off completely.  This is the drug that Katha gets put in her spine every other week.

So, after discussing it, Amory and I decided to take Katha off the VTS-270 immediately.  Katha was so happy she is doing better than she has in months.  As you can imagine, it is a very invasive procedure and she is very relieved to be done them.  When discussing this with the doctor he mentioned that because it's Katha's lungs that are the only organ essentially failing at this time, there is a good chance that this could stretch on for years.  Also, he doesn't expect that there will be a huge deterioration coming off of the medication but there will be a gradual deterioration the longer she is off of it. But when considering Katha's quality of life, we still felt this was the best option for us.

 She also was able to receive a hospital bed from AADL.  When the OT was coming to assess our needs she broke down saying she didn't want a new bed.  In usual Katha fashion, she wasn't taking well to change.  Well, the day after we told her she wasn't going to get anymore needles in her back, the bed was delivered.  

 I was expecting that we would have to fight her for a couple weeks about the bed.  In fact, before the bed was delivered, I refused to take apart her old bed frame just in case she refused to use the hospital bed. 

 Well, after it was set up I went to show it to her.  She immediately wanted to get into it and refused to get out until supper time!  The next day she woke up early and refused to get out until food was a must.  Then, after lunch, she decided she needed to lay down until supper time which is not part of her usual routine.  It's amazing and she just loves HER hospital bed.

 Onto the symptoms:

Enlarged liver and spleen: The same as far as I know. We will have an ultrasound in March that will let us know for sure.

Dysphagia (trouble swallowing):Getting a lot worse.  She now chokes at every meal but is able to get it up without assistance.  She also has begun choking at night, which means she having trouble swallowing her own saliva.  We are hoping the inclined hospital bed will help with this as well as helping her sit up.

Basal Ganglia (holding limbs at awkward positions):Katha is having a very hard time walking.  Walking more than 20 feet is impossible for Katha now.  She also trips over her own feet a lot.  We only walk her from bed to the bathroom each morning because usually she's so wet that she would immediately soak her wheelchair.  She also stands up to transfer to and from the wheelchair.

Dementia (memory loss):This is about the same, she knows her family but not really anyone else.  

Seizures:  She still hasn't had a seizure.  We hope that this continues.

Gelastic Cataplexy (falling down in response to a large emotional outburst): We have to be very careful when we make Katha laugh now because she will quit breathing almost every time she does this. Often, Amory and I will just be interacting with each other and she will find something funny and "pass out" coming to with a gasping breath.  

Sleep related disorders:  Katha only stays up for about 6 hours at a time and can sleep up to 30 hours.  But generally she sleeps for 12 hours and is awake for 6to 8 hours.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Honestly, she has this but it rarely impacts her anymore.

Hearing Loss: She will probably have a hearing test in March which will tell us if hers has gotten any worse.

 

October 6, 2020

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

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

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

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

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

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

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

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

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

Please keep Katha in your prayers.  

Now the symptoms:

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

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

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

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

Seizures:  Still none

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

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

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

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

 

 

March 30, 2020

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

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

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

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

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

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

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

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

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

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

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

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

Onto the symptoms:

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

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

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

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

Seizures:  Still none

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

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

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

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

February 13, 2019

So, it's been about a year since I updated.  So, it's time!

We have been going to Calgary for Katha's procedures for over a year now.  It has been so much easier but we definitely miss California, especially the people.  Also, the drug company cut out any reimbursements for travel expenses which has been difficult but we are making it work.  Luckily, the doctor let us book a later time so that we don't have to stay overnight anymore.

Katha started school at the local school after running into a lot of difficulties trying to register her for home schooling.  The boys school said they would help with Katha and that we should register her there.  So, that's what we decided to do.

It started out great!  She got to school a few times in the first couple weeks of school.  Then, on September 11th, she had an operation.  It didn't go quite as expected and there was no way that she would be able to attend school.  We ended up going back and forth to Calgary a lot.

Then, in October, we had to rush to the local hospital because of what we thought were complications from the surgery.  Turned out that Katha is also diabetic.  It took a while to find out if it was type one or type two because, of course, Katha showed signs of both. 

At first, that was a tough blow, thinking of all the pokes she was going to have to endure when she's already had to go through so much.  Not to mention, she has no drug coverage because of the $10,000 biweekly that her Zavesca was costing out insurance.  But, we were told that she would have drug coverage again come December 1st.  She now has drug coverage again which is going to all of the medications and supplies needed for diabetes.

The diabetes nurse gave her a machine that monitored her blood sugar with a sensor that sits on her arm and only had to be changed every two weeks.  Also, she was only getting a little bit of insulin so there was only one needle a day at the beginning.

We had to change her diet slightly (thank God for Fairlife chocolate milk that's lactose free and only half of the sugar!) but we caught the diabetes early.  She is right now going through what is known as a honeymoon phase and isn't on insulin at all and hasn't been since November.

However, she is type one diabetic and will have to go back on insulin eventually.  Hopefully, it won't be too much.

Katha isn't really walking by herself anymore, but she's still standing on her stander everyday.

After all the casting last year, her feet are back to being pointed, even with wearing the braces everyday.  That doctor figures we will probably have to put Katha in casts for 2 months every year.  It's kind of a pain, but she is so much more stable when her muscles are stretched.

We are restarting casting in March.  I hope it doesn't hurt her too much.

The complications from Katha's surgery have subsided and we are able to get back into her regular routine.  However, she is so over school.  It's just not worth taking her.  I have to drag her into school where she is miserable the entire time she's there.  I'm thinking it might be time to have a chat with the school about getting her registered for home school next year.  The problem is that the Alberta Government wants parents to agree that the home schooled children will have certain abilities by a certain age and they will check that they are learning these things.   Things that would make absolute sense with most kids but Katha is never going to be able to read or things like that.  So, it's all very frustrating. 

We did finally get her adult wheelchair.  Remember the expression "be careful what you wish for because you just might get it", this wheelchair is the physical embodiment of that for me.  Well, it was at first.  It scraped everything, couldn't get over the smallest bump and was almost too big for the doorways.  However, we have gotten used to it since March.  Katha doesn't really push herself around anymore because it is big and awkward.  We are very thankful to have a wheelchair that Katha fits in and doesn't fall apart all the time.

So, it passes through my mind a lot that back in 2012 we were told we would be lucky to have 5 years and here was are, going onto 7.  We are so grateful everyday to be able to play, talk and interact with Katharina, or as I have recently nicknamed her, Fargle Schnoogen.  (I called her Katha and she corrected me to Katharina so I told her since I had named her I could call her Fargle Schnoogen if I wanted).  We love her laugh, her singing and most of all, her sass.  We are so thankful to have this amazing experience of just knowing her incredible strength and personality.

So, onto the symptoms:

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

Dysphagia (trouble swallowing): We had this retested, she is having slight trouble swallowing and they recommended that we thicken her liquids.

Basal Ganglia (holding limbs at awkward positions): Katha has a hard time holding her hands out to be washed.  They are basically always a little curled and she cannot walk or stand flat on her feet, she is on her tiptoes whenever she stands.

Dementia (memory loss): Katha has no sense of time and unless she really knows you, she probably won't remember you.  There are very few people Katha bothers to remember.

Seizures:  Still none

Gelastic Cataplexy (falling down in response to a large emotional outburst):  So, I have recently discovered that this is actually a type of seizure.  So, I guess Katha does have a type of seizure but they don't seem to effect her cognitive ability at all.  Plus, it's fun to make her laugh so hard she "passes out".  In fact, she will sometimes do it to herself.

Sleep related disorders:  Katha has a very hard time going to sleep a lot.  She will often get her days and nights mixed up.  There have been times where she wakes up at 10 PM and will be going to sleep at 7AM.  This is another big reason it's hard to get Katha to school

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): This has been pretty good anytime I've tested it.  She has trouble looking up but can look further up than when she was first diagnosed.

Hearing Loss: Honestly, I couldn't even tell you where her hearing aids are.  She hasn't worn them in probably a year.

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.

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.

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.

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. 

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.

Before

After

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.