Today I had a meeting with a huge group of people. It was with everyone that works with Katha. Her doctor from the metabolic clinic even took the morning off and came to the school to discuss strategies on how to work with Katha. Most of the information was stuff we already knew. Mostly, what was said is that the more active we keep her, the better she will do.
There were also several other things discussed. Her doctor was saying that she is the mildest case of NPC he has ever seen. He also doesn't expect her to go downhill very fast with how well she is responding to the medication. He kept saying how he expects her to be okay for the next year. He can't guarantee anything, but from what he has seen, he feels that Katha will have a fairly slow progression of the disease.
There was a lot of good things that were brought up. I guess the biggest change is that because Katha is still loosing weight we are going to start supplementing her with some formula for her drink at meals so that she might gain a little of it back.
Also, he recommended not to try any kind of supplements without checking with him first because we don't know how it will effect her neurological symptoms as well as how it will react with the medication she is on.
The school has noticed her gelastic cataplexy is getting worse again as well. The doctor specifically asked about it and her aid wasn't sure what it was. When I explained it's when she falls down because of a large emotional outburst you could see the light bulb go on in her aid. She even said "That's what that is?!" So, I'm glad to have confirmation that it is getting worse. But, according to her doctor, that doesn't necessarily mean her decline is becoming more apparent. It's just that the miglastat doesn't treat the cataplexy. Which, was good to hear.
Her teachers said that Katha's reading is improving. I don't see much of that, but I'm still glad they think so. She is still learning and according to her doctor, that is a big deal.
They also mentioned how Katha has been using a walker to get to and from the bus at school. The doctor was very supportive of this so the physio therapist said she would start proceedings on getting Katha fit for her own walker which would be great.
Onto the symptoms:
Enlarged liver and spleen: According to the doctor some of Katha's mobility and weight loss issues could be caused by this. With mobility, if she has to lay on her stomach, it could be harder for her because her liver and spleen could actually get in the way. Also, some of the weight loss could be from her liver and spleen getting smaller.
Ataxia (unsteady gait): Katha continues to struggle with this. Although, I watched her run voluntarily for the first time in what seemed like forever.
Dysarthria (slurred speech): Katha continues to be hard to understand as well as slow in her speech but she tries hard. She is getting a new speech therapist who is looking into a communication device to help her when she looses her speech altogether.
Dysphagia (trouble swallowing): I mentioned to the doctor today that Katha has started choking when eating and drinking. Her teacher and her aid immediately said they had noticed that she will usually choke when drinking as well. The nurse coordinator said they would set up a swallowing assessment through the children's hospital.
Basal Ganglia (holding limbs at awkward positions): Katha does this quite a bit again. Usually whenever she is sitting, she is holding her hands awkwardly.
Dementia (memory loss): Katha still needs cues to remember events but once she does she loves to tell stories to anyone who will listen. Katha having a wonderful sense of humour was mentioned by almost everyone who works with her. The doctor was encouraged by this because it means Katha still has a lot of cognitive function.
Seizures: Still no seizures. The doctor was telling us today that a seizure is a real sign of the disease progressing to the point that Katha may no longer be able to go to school.
Gelastic Cataplexy (falling down in response to a large emotional outburst): As I mentioned earlier, this is getting worse. It scares Katha and causes her not to laugh as much.
Sleep related disorders: Katha still has trouble getting to sleep. However, she is finally over her cold and will hopefully be less tired for a while. The doctor mentioned today that Katha will take a while longer than most kids to recover from illnesses. Both Katha's teacher and I have noticed how long it takes Katha to get over a simple cold.
Sensitivity to touch: Katha is still doing well with this. She allows people to hug her and still wants to cuddle as much as possible. Often, when just sitting near me, she will reach over and grab my hand.
The doctor recommended getting Katha's hearing checked again to see if it's overly sensitive. We are still waiting for the opthemologist appointment as well as the metabolic psychologist.
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