So, the call finally came. She has tested positive for NPC. It's not a big surprise. It would have been more shocking to have it come out negative.
On October 31 we as a family are heading to the children's hospital in Calgary to test Amory, Jarrome, Dominik and I for the mutations in Katha's genes. If both mutations are from either Amory or from me then it wouldn't actually be NPC. But, the doctor says that since she has almost all of the symptoms, it's just a formality to cover the doctors butts.
We're testing the boys because we want to be sure that they don't have it as well and are just not showing symptoms yet.
We found out October 24, 2012 at 3:30 p.m. I don't think I'll ever be able to forget that date and time. Afterwards, I immediately called my mom, and later that night we went over to discuss everything that was going through Amory and my head.
One of the things we started to think about was how were going to have to move. Amory wants to build but I don't know if that's such a smart idea. The reason we have to move is because with my back I won't be able to carry Katha up the stairs, so we'll need a bungalow home. I'm worried if we build that we won't have the house we need before Katha needs to be carried.
We also talked a lot about treatments at mom and dad's. We're hoping to get on the cyclodextrin trial, but that would probably mean having to go to Maryland a lot. Also, with the Zavesca the main side effect is loose bowel movements. This would probably mean that Katha would have to wear a diaper to school. I cringe thinking about the first day she has a huge accident at school. She will be devastated, but other than taking her out of school now even though she can absolutely still go, I don't see how I can prevent this from happening.
I explained to her tonight that mommy was wrong all the times I got mad at her for not going to the bathroom on time. I told her it's not her fault and that it's because she's sick, and I promised her I would never get mad at her again for not making it to the bathroom, but she still has to try. But, I also explained that she has to tell the teacher if she's had an accident. I think she gets it now, I hope so.
I told her that eventually she is going to have to wear a diaper all the time because that's what this sickness is going to do to her. I asked her if she remembered having to ride in a wheelchair after her MRI, she did and she thought it was fun. I told her that's good, because you're going to need one so you don't fall down all the time.
After discussing all of these heavy topics, mom and dad told us that they want to take us to Disneyland right away. We're leaving Nov. 26, one month from today. I had to drive to Calgary today to get the boys some passports.
So, here is where Katha is with her symptoms:
Enlarged liver: It's still the right size, she just had blood work done, and has an ultrasound booked for Nov. 15 to see how it's functioning.
Enlarged spleen: Still slightly enlarged
Ataxia (unsteady gait): Katha's walk continues to get worse. It is by far the most noticeable symptom about her. It causes her to fall 2-3 times a day. We plan to start putting her in a wheelchair if she has to walk long distances. I'm going to start researching where I can get a wheelchair from a health clinic.
Dysarthria (slurred speech): It's definitely slowing down. You can actually watch her trying to get the words out of her mouth, they just won't come. She will sometimes stutter when she is really tired as well.
Dysphagia (trouble swallowing): She drools more, but still is eating very regularly and large amounts. In other words, she still loves her food, and I thank God for that.
Basal Ganglia (holding limbs at awkward positions): She still only does this when concentrating hard on something else or really tired.
Dementia (memory loss): You have to repeat things to Katha several times before she remembers it, but still doesn't seem a huge problem yet.
Seizures: Katha still has not had a seizure.
Sleep related disorders: Katha comes home with very little energy and often is exhausted. I spoke to her teacher about this today and she is willing to let Katha take a small pillow and blanket to school so that she can have a nap if needed.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Almost every time she laughs she falls down. We no longer have to tickle her, it can happen whenever she's happy.
Sensitive Touch: She still has trouble touching fuzzy things but still very much enjoys hugs and cuddles whenever she can get them. She is often very ticklish in the most unlikely places (between her shoulder blades).
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