neuro visit/carnitor

[mumtosarahlou]

I took Sarah to be evaluated by a Rett syndrome specialist. He thinks she has Rett Syndrome IF she has no abnormality in an MRI. She has never had an MRI and I do not want to give her one because it would have to be done under general anesthesia and she gets an ileus(intestines shut down) with general anesthesia. So I am stuck.
He is doing more DNA testing on Sarah for Rett that has been developed in the last couple of years so maybe she would finally actually test positive for it. But if not, he wants the MRI.
She has other things that also need to be done under general anesthesia but none of them are absolutely essential. We have put them off for now because when she gets an ileus, it's a mess. She has no good IV access so giving her fluids is terribly impossible when she gets the ileus unless we put a temoporary NG tube down her throat and dribble it in or put in a central line.

Is it worth it to put her through all this for a Rett diagnosis?

He wants to try her on carnitor as it helps 50% of girls with Rett with overall function. Has anyone been on that? Side efects?

These decisions are so difficult for me sometimes. She tends to just fall physically apart when we start messing with her. One thing leads to another.

[grace]

not my area Lesley...but if it were me, i'd say go for the carnitor as a trial at least. it's usually safe and helpful etc. as for the MRI, hmmmm...if you did the new bloodwork, just wait and see and decide after that. is it still not possible to do it without sedation for her? and does she have that kind of response even if its only a 10minute sedation?
does the dx change anything for her?

[mumtosarahlou]

Grace,

I will definately try the carnitor :) And I will wait for the most recent Rett test results before scheduling any MRI. I guess she needs the sedation for the MRI as she will not lay still. She hates lying on her back-lol. Even 10 minutes under sedation for any reason is a problem. We did that last year for botox/phenol injections and she still ended up hospitalized with an ileus the next day:(

I don't think the 'official' diagnosis would change anything for her--unless this Rett specialist refused to follow her in the future? Not sure on that one. I guess she could not be included in clinical trials if there were any for Rett in the future?

[Denae]

Thats a tough question. I don't know, making those decisions is never easy.

He wants to try her on carnitor as it helps 50% of girls with Rett with overall function. Has anyone been on that? Side efects?

This I do know about. Ri took it when she was on Depakote. I didn't see anything negative from it at all, other than a bad smell. Ri kind of got a funky body smell when she was taking it. It was just odd.

Having a diagnosis gave us closure, maybe closure isn't the right word to use, but I was able to feel like at least I knew what I was dealing with and had some sort of parameters to guide us on this path a little. Would knowing for certain if Sarah had Rett or not bring you to that point? Or are you already there?

Of course Ri was dx'd based on EEG, nothing invasive or dangerous to her at all. I am not sure what I would have done otherwise.

(((hugs))) as you make this difficult decision.

[J&K Mom]

Jake was on Carnitor as a toddler. I can't say we saw any benefits from it (hard to say, but nothing big), but we def didn't have any bad reactions or anything with it.

Any idea what the new test for Rett would be called? I need to call our geneticist. We're supposed to be doing something, I have no clue what it was though LOL. I think she was going to call some Rett studies to see if they would see us.

[J&K Mom]

Having a diagnosis gave us closure, maybe closure isn't the right word to use, but I was able to feel like at least I knew what I was dealing with and had some sort of parameters to guide us on this path a little.


Right! Our doc doesn't understand this. I love him to bits, but it's frustrating. He just doesn't think the kids have anything identifiable that would be treatable, so why put them thru the testing, which I totally get, but STILLLLL ya know??? Come on, give me something solid to grab hold to.

[mumtosarahlou]

I, myself, have felt for a long time that Sarah has Rett syndrome. She just fits in every possible way. There is that tiny little voice in the back of my mind saying maybe not but I will say this....even if her MRI did show some abnormality of the brain, I STILL would not believe she does not have Rett as well. A person can have 2 things going on. That is how strong I feel her symptoms lean towards Rett. Especially as she gets older.

As far as the type of Rett testing now being done, he said, 'she needs to be retested even thought she was tested 2 1/2 years ago and also 2 years before that. I was surprised. And then he said something about "gene sequencing" discoveries.

I hadn't realized, but, after all his questioning of me and John about Sarah, it became clear that Sarah used to be able to do more things than she can do now. It has been so gradual that I just didn't realize it. At age 2 she could walk straight forward with a posterior walker, could drink through a straw and could finger feed with a 'rake' grasp. She would hold a toothbrush in her mough and chew on it. She could hold a cup with 2 hands. She would put a spoon to her mouth and take pudding off. She cannot do any of those things now. Far from it. Does that mean what she has is 'progressive'? Boohoo.

Have any of your kiddos lost skills(motor) over time? Interestingly, her learning is better as she gets older. She is more aware and understands more and can read words. I'm picturing her curled up in a ball in a bed physically as an adult but fully aware of everything going on :(

Anyone's kids less getting capable, less mobile as they grow? Just curious.

[lacyndarella]

Jimmie was on carnitor w/ depakote as well. Just a supplement, so it's pretty safe...That's exactly what his neuro said. We all know supplements can have side effects too. LOL. But no problems w/ it except that it tasted nasty and he would spit it out.

[Carly'sMa]

Lesley,

I am part of a listserve called Rettnet. I can send you an e-mail with the address if you want to subscribe. There are several hundred people and it's very active. I see 20 posts a day. I know there has been discussion about Carnitor, but I don't remember the specifics.

Loss of motor skills is a very typical Rett trail.

As far as the MRI goes, can they use light sedation? They did that with Carly for a CAT scan. She kept falling back asleep (she does better with general) but every other kid that was in left after a short period of time.

[Naominjw]

Carnitor... carnitine... it is such a benign course of action. It may help mitochondrial function. It is in my daughter's food supplements.

[Mother's Heart]

carnitor, son took it but not for development....instead for some metabolic off thing he had. It helped him but the strong fishy smell sure put us at odds with the school. I didn't care that his room smelled like a fishery. school did. other than the aroma no problems.

[WorkinMom]

Although Drew doesn't have any kind of syndrome or anything other than CP he has regressed in his abilities. Due to growth and increase of tone and of course the pull of gravity.
IMHO I would be leary of the MRI too in her case. I hate sedation for any reason (though Drew has had to be under for several operations) I just hate it! I say listen to your heart and gut and try not to be swayed by any doctor. Just my opinion as I am not in your shoes so .... I could have a total different perspective if I were. LOL
Good luck with the testing and decision making.