February 29, 2016 (Rare Disease Day)

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

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

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

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

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

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

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

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

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

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

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

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

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

So, onto the symptoms:

Enlarged Liver and Spleen: Still the same

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

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

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

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

Seizures: None that we know of.

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

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

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

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

I'm sorry if this is confusing.