Kylie-my daughter

[gal5883]

Kylie will be 5 May 1st. She was diagnosed with type-1 diabetes in nov 07. The worst day of my life...until April 27th 2008. Kylie had a seizure. we went to the er and were told she was in Diabetic ketoacidosis (D.K.A) I told them no its not her blood sugars were fine. They let her continue seizing for almost an hour, and not until her heart rate dropped so low they needed to get the paddles and she had a full blown grand mal did they give her anything! Then because the mri and eeg were normal they sent us home with depakote. Then they took her off the meds 2 weeks later and said she needed discipline not meds. And one week after that she had 11 "cluster" seizures in a 12 hour period.
On may 11 2008 Kylie's face started twitching on the right side, this "twitch" eventually spread all the way down her right side by the end of June 08.
We wasted over 4 months at Stanford (Lucille Packard Children's Hospital) and were sent home in Oct after they did plasmapheresis which made her worse. In Nov we were told it was probably a virus that attacked her body and she only had 7 months to one year to live.
So here I am Kylie now is on a feeding tube, her hair wont grow, she lays down all day because shes too tired to get up and around, she twitches constanly. Except when she sleeps which she rarely does even though shes exhausted from just being. Her vocal cords tremor or "shimmer" is the technical term. Her right foot turns completely inward now and she has developed torticollis and scoliosis, which Shriner's turned down our application for because she is too complicated for them.

[Samantha]

Hello Kylie's Mum 
I'm so sorry to hear about your daughter, I'm also very surprised they haven't given her more testing, MRI, CT scan etc. But then again the medical profession can be a complete pain in the ar## and really have no idea unless one of them or their family members suffers.

Are you thinking of seeing another specialist ?
Don't give up
 
Sammy

[Jenny]

  Kylie's Mom!
Wow, you and Kylie have gone through alot. I send you and Kylie my thoughts and prayers. It's sad to hear your daughter is in a terrible state like this and I hope that you find support here. 

Your new friend, Jenny

[Cathie]

Welcome Gina. I'm so very, very sorry to hear about Kylie. As a mum of two daughters, I can not imagine what you must be going through, or of course what little Kylie must be going through and so rapidly too. I hope you can find a better more caring hospital and/or doctor, it's so wrong that they seem to have stopped looking - especially of one so young. Hang in there (easier said than done i know). There's gotta be an answer somewhere. 

[Jason-son]

Welcome to the forum Gina :)   I'm so sorry to hear about your daughter.  I can't even imagine going through this stuff at that age.  I hope we can help find an answer.  or atleast someone who can help.  I'd be very interested to see this article of hers and any other information. 

How is kylie handling everything?

[gal5883]

Thank you for the caring responses, re-reading my post I left out some info oops  
So we have had 3 mris 2with contrast, 3 eegs and one v-eeg, a geneticist had Kylie get a heart scan because her toes are always purple and cold, but that was also "normal." Alot of blood work which is all pretty normal except she is slightly anemic from the meds she was on at stanford.

Kylie is doing okay with it, she gets frustrated because she used to be able to do alot more, i mean she was above average in EVERYTHING just a year ago so its hard for her. i think shes just realizing it now how differant she is now that she doesnt walk very much and she asked why she talks funny and shakes so its sad for us too. Shes an awesome little girl though that much I can say for sure!!
We are activally searching for anyone that might be able to help us though I am open to anything!!
Thanks again I look forward to chatting more!!

[Samantha]

I just cannot imagine what you and your poor little girl are going through. I'm praying for you both
 
If something comes to mind I'll be sure to post, as will other members if something pops up.  . Sorry I don't have any input at present other then a big hug
xxx

Any time you need to vent and scream we're here for you


Sammy

[Cathie]

You have other kids as well , geez mate, how do you all cope. I used to have an ET toy, That is such a fun movie.  You think they would try harder considering her age, i don't get that

[Jason-son]

when you get a chance, I would really like you to write down all her symptoms, and the results of all her labwork / procedures she's had

[ohtobehealthy]

Ok... I found it!! phew!! *wipes brow*

wow, this poor thing and I am outraged that anyone would even suggest that she needed discipline!!! omg doctors these days! if you read some of my posts some doctors have told me some of the most outrageous things sometimes.

Hmmm so I know that she is having seizures but no abnormal EEG activity, it seems though to be affecting her muscles as well. Maybe the muscle rigity is not seizures but a nueromuscular problem, because I noticed from her video her facial muscles are truly affected and she is unable to smile. Was there ever any EMGs done? I know that blood sugar can indeed cause the seizures. I have blood glucose issues I deal with myself. I read too she had a feeding tube? she is unable to swallow her food? I am really suprised no other nuero muscular problems have been looked into or tested for. Unless I missed that. Also when the blood sugars are involved like that always good to see a good Endocrinolgist... unless I missed this too, though I reread and didn't see any info like this on your post.

Atleast she has been accepted to NIH.. that is awsome news. Big hugs to you guys! keep us posted please!

[gal5883]

Sorry I get so excited that there are others out there (sounds morbid I guess) that i forget to list all her things :) Yes she sees endo. every three months for a1-c tests. She was dx'd with diabetes in Nov of 2007 and her seizures are not related to her diabetes in anyway :) She has had 4 eegs and 2 v-eeg's that show she has seizure activity. Thats why Stanford said it was continuouse seizures(although it stops when she sleeps) and through a v-eeg our docs here found it wasn't continuouse seizures and in fact it wasn't even the type of seizure she was originally dx'd with and the meds she was on before could have been making it worse not better. So now she is on Keppra 30mls daily and hasn't had any break through seizures.
We have jusr recently has NCV/EMG at the request of N.I.H and both were normal. She has since my last posting in March had another Mri and also a spinal mri. Also normal. She is on a feeding tube because she just wasn't eating enough and now at this point she doesn't eat at all although she is able to drink small amounts she says shes just too tired to eat or drink. Also, while at Stanford last summer, the plasma-pheresis took all of her vitamins and things from her body which made her more sick. Her vocal cords are actually where the shaking started and has progressed the most I think and they think maybe its uncomfortable for ehr to eat as another reason for her not eating.  
I guess with noone doing tests and I have no way of knowing which tests to do, maybe shes not just undiagnosed shes untested too

[gal5883]

Hi just wanted to do an update we are for sure scheduled to go to the N.I.H Dec.13-19! Initially its one week and we will be doing 2 days of neuro and 3 days of genetics from 8 am to 430pm. I guess they have it all planned and we will get a schedule about a week before we go. The only thing I know for sure is the first day we are doing another lumbar puncture because the one we did last year the docs never actually ran tests on *sigh.
But we are excited and I am wondering if anyone has been to N.I.H before how does it work?
Kylie had a 34 minute seizure a few weeks ago and now has oxygen at night but other than that hanging in there strong. just got to make it a few more weeks 

[Samantha]

Hi Gal

Thanks for the update   December is not too far away. I cannot believe the Doctors didn't test on the last lumbar puncture   and now your daughter has to go through it again  

I really hope this helps, big hugs to you and your daughter, I'll be thinking of you both
 
Sammy

[trancy221]

Hello gal

Bad story with your daughter.

Did the doctors get some results by now?

I wish your daughter good luck and health!! 

Yours
trancy

[ohtobehealthy]

I was just thinking of you two.. thats very exciting. December will be here before we know it!! I am thinking and praying for you guys!! hoping for nothing but the positive! big  to you