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.