Antoinette~ Kiki~ OT

[Guest guest]

<<Dear Patti, your turn since you seem to be the seizure expert.....

Did your daughter have seizures where she would wake up screaming out of a sound

sleep?>>

No, sorry.... we have never experienced seizures like that. Nothing even

close.... only full-tilt grand mals and complex partial seizures.

This sounds like what they call " night terrors " . I don't know if every doc is in

agreement as to whether these are true seizures or not. Could be that the only

way to tell would be an overnight EEG where they caught an episode on the tape

and could correlate the behavior with brain wave changes.

<<She also does something very peculiar when stressed out or confronted by

strangers...she goes into a " sleep " . It truly looks like a sleepy little girl

falling into a sleep.>>

I would say that they definitely need to rule out a seizure in this case. There

ARE seizure types that look like this. EEG would be the thing to do, again...

but would they have to stress her out to induce this? That would be hard, but

might be necessary.

<<Lastly, They are even suspicious of Fragile X Syndrome now. This is a cause

for her type of autism.>>

Look.... they are grasping at straws. They ARE trying to rule stuff out, which

is not a bad thing to do. I know it's stressful and upsetting for you. Believe

me, I have been there.

<<With MRI, they also need to rule out brain changes, that would cause her to be

so different. They are going to get a anesthesiologist who specializes with

those with sensitivities to do this procedure. It scares me to death.>>

One step at a time..... you can talk to the anesthesiologist ahead of time and

get all kinds of questions answered about what they would do and how it will go.

It probably IS a good idea, now that I read a lot more about what's been going

on.... they need to see the brain to be able to rule out certain metabolic

conditions, etc.

When Katera was little we were put through several rounds of genetic tests (all

done with blood tests). Geneticists like to look at all the little " oddities "

about your kid.... Katera has big thumbs, apparently, and strangely shaped

ears, plus a few other features that they pointed out that they said could have

been due to one genetic disorder or another. I got a really creepy feeling that

they were hoping to find some rare disorder... for their own personal reasons or

something. It was really tough to have them pointing out all the things " wrong "

with my daughter.

ALL of the tests were negative.... but it takes several weeks sometimes for

results to come back, so of course, in the meantime, you are reading everything

you can get your hands on about whatever it is they're testing for, and driving

yourself crazy looking at the " prognosis " . Finally, they decided that although

none of these tests were positive, they still thought she had some kind of

genetically-based underlying condition.

Then they told us then that they were 95% sure she had Rett syndrome.... which

they knew was genetic b/c most cases are in females, but at that time, they had

not yet isolated the gene (researchers have since found it). We were

devastated, because from what we had read, Rett is a degenerative disorder....

and Katera would lose the use of her hands, probably never walk and likely not

live past her late teens. We spent an entire summer crying our eyes out and

feeling like our lives were over.

On her second birthday, the neurologist called me and said there had been a

mistake in reading her MRI and they now had found some little brain part that

was missing, that they felt " explained everything about her " ..... and basically

ruled out Rett. I didn't know whether to laugh or cry or go find whoever made

the mistake and and punch him/her in the nose.

I mean, he basically said..... " So.... never mind " . And we then threw away the

reams of stuff we had found and printed out about Rett syndrome. It was the

strangest thing.... to be celebrating the fact that your kid has a missing brain

part, which can cause all kinds of other problems, but at least is not

degenerative.

Listen, I'm just saying.... this is the way it goes with these things. They can

look at all kinds of testing and rule out one thing after another.... and you're

caught in the middle, waiting.... worrying.... wondering what her fate will be.

All I can say is that it really doesn't change how you treat your daughter RIGHT

NOW.... today..... and how you feel about her. It's a lesson in living " in the

moment " , which I know is really hard.

It's highly likely that you will never get any conclusive, final, absolute

answer.... or a very firm diagnosis. Even when there IS a specific genetic

disorder, there is always a range of how the kids do. They can't tell you

EXACTLY how it will affect her. I have since sort of followed the developments

in the Rett syndrome community, because Katera still has many similar features,

and I have a good friend who has a daughter with Rett.... but we've opted NOT to

do the genetic test to rule it out, even though we could now.

It would be $800+ out of pocket for us, and we thought hard about it..... that

first of all, she does not exactly fit the " typical " pattern of a Rett girl, and

secondly, that we would not change ANYthing about the way we're treating her,

diet-wise, seizure-treatment-wise, education-wise, etc. So, we will probably

never know for sure... but we're okay with that now. She walks, she is making

progress in every area, she is NOT deteriorating... so, unless we were seeing

those things, we don't see a reason to do the test.

This is a tough time for you.... and I know I can't say anything that will

prevent you from worrying a lot. Just take it a step at a time.... and with

every test they want to do, make them explain to you how this would change the

way her symptoms are treated. You don't have to say YES to everything... only to

what really makes sense to you. You can always weigh the options.

At one point, Katera was screened for a certain range of metabolic disorders,

and one of the tests came back slightly out of the normal range. Then they

wanted to follow that up with a muscle biopsy that would require surgery....

removing 2 ounces of muscle tissue from her leg. The results would have taken

SIX MONTHS, and..... there is no cure or treatment for the disorder.

So, I said NO.... I did not see the point. I said that if we began to see any

evidence of actual symptoms of this, then I'd reconsider the biopsy... but in

the meantime, I demanded that the re-run the blood test...... and wouldn't ya

know? It came back normal.... and they said (again) " Never mind! "

Hang in there...

Patti