well. that was unexpected...

[FMmom]

We saw the neurologist yesterday, just a precautionary thing to make sure there isn't anything more sinister than hypoglycemia causing Kaelin's blanking out moments. I talked a lot about trying to figure out the diet Kaelin needs and the reaction she has to sugar. I was thisclose to apologizing for wasting her time since this is so obviously a food issue.

Of course, the doctor had a lot of questions dating back to the day we brought Kaelin home. These questions are never easy because Kaelin had a lot of delays, simply due to being in an orphanage -- it could mask any type of neurological disorder. It's equally difficult to answer questions about what is happening now since Kaelin is ten and there's a lot of time during the day when I'm simply not watching her. I can't accurately say how many times a day she experiences an episode, nor can I estimate the time of day it happens. I tried to get Kaelin to record it in a little notebook where she'd check off if it happened before lunch or after, but she never did it at school and "couldn't remember" once she was home. Sigh. So I didn't have anything to back it up, but I still offered my opinion that it happens in the afternoon because Kaelin tends to skip lunch.

The doctor asked Kaelin to describe what happens and for an ultra-shy little kid, she answered it pretty well. Then the doctor did the neurological tests -- which always amuses me in this day and age the tests are pushing back on the doctor's hand and reflexes.

Turns out the doctor is not as convinced as I am that this is nothing to worry about. She said there are some things that are consistent with petit mal seizures and some things that are inconsistent (story of Kaelin's life...) However, the only thing that is inconsistent is that Kaelin is a little old to be presenting with symptoms. The doctor even said that she could prescribe medication now, but if I'm comfortable with it, we should wait for the EEG to have a "clearer picture". Yikes.

It seems that the doctor is much more willing to think seizures because Kaelin's reflex test showed an abnormality -- her toes flex up when they should have flexed down so that points to the possibility of brain injury. Wow. The doctor scheduled an EEG and then she's thinking of doing an MRI (she will definitely do an MRI if the EEG is abnormal.) Then she talked about how she'll call after the EEG and we can discuss medication over the phone rather than wait for a followup appointment. Wow.

Sigh. I'm still thinking that the blanking out episodes are from hypoglycemia -- but the "brain injury" is just a little concerning...

Really wasn't the doctor's appointment I was expecting, that's for sure...

[Charlie Arnold]

Hi Fmmom,

well, sounds like another positive appointment. But another very familiar sounding one as well.

Meg has had 3 EEG's, 2 sleep and 1 awake and all have been negative even though she has shown clear indications of petit mal type problems. One of the problems is that unless they are having them at the time of the EEG then it doesn't necessarily mean it is negative so if you are having them done try to get her as reactive as possible and most likely to display them. That is why we had the sleep deprived one last time although she wasn't totally hypoglycemic so try and time it if you can for the time of day when it is most likely to happen.

Be wary of trying the medication on a see if it works basis as it can have alot of gastric side effects which is why they don't want to start megs on it without an absolute diagnosis.

I'm not sure what to say about the toe reflex, I know that can be a positive finding for a brain problem but some do just naturally have that reflex, I seem to remember all babies have it to start with, I'll look up my old notes about it from when I trained

The other thing to ask about is metabolic seizures which is where they are headed with Megs now. Trouble is I don't think they show any changes on the EEG but basically it is due to a chemical imbalance in the brain due to acidosis if an enzyme action is missing in the digestive process (which is the case in HFI) and I think this may be the case with Megs as she definately has more when I think she is having a food reaction. Therefore the only treatment is the strict diet to keep her balanced, and good fluid balance to flush out the toxins.

Anyway read this link it is a basic explanation
www.ehow.com/about_5523460_metabolism-seizures.html


Good luck with this next step, any news on the gene test, Meg is having her blood taken on Tuesday for it. Keep us posted and try not to worry too much till you get answers, I know how easy it is to get glum every time they come up with a different idea as it is never a simple idea. Look up the ketogenic diet too, in a way our kids are on a three quarter type ketogenic diet anyway so maybe that is naturally helping.

Take care

Charlie

[FMmom]

I have witnessed Kaelin's blanking out, so I definitely believed her and yet I was truly expecting the doctor to say that it wasn't consistent with any neurological condition -- that it sounded more like daydreaming. I know that Kaelin is extremely skinny and as her pediatrician says, she has no reserves so when she doesn't eat her energy just gets zapped. I figured these blanking out episodes were low energy. I still believe it's tied up in hypoglycemia or sugar or something like that, but now I can see that it may trigger a real neurological event as well.

I can't imagine putting Kaelin on medication without a real good reason to do so. Even if the EEG reveals something, I'm not sure Kaelin needs meds. This doesn't seem to be impacting her life that much. However, Kaelin has mentioned a couple of times how she was running and she "must have fallen somehow 'cause I was on the ground" so I will definitely entertain the idea that this could be slightly more dangerous than I previously realized. (The doctor told us to make sure the bathroom door is unlocked when she's bathing and keep and eye on her at all times in the pool and no skiing so she doesn't fall off a chairlift. Yikes.)

Kaelin's EEG is not until May 2nd -- it was the first appointment available, which works out nicely for me since my husband will be back from Asia by then so we can share the keeping-Kaelin-awake duties. How does one go about trying to induce an episode? Should I give her sugar at dinner and again at breakfast? I've been asking Kaelin if she thinks there is anything that sets this off and she says it happens mostly when she's tired. I've never seen it happen at bedtime, so I tried to clarify what she means -- she's talking worn-out tired, not sleepy tired. So maybe a big plate of pasta and a big slice of cake. White flour tends to make her feel worn out ; sugar makes her hyper which tires her out.

We haven't gotten the HFI results yet. We have another weight-check with the pediatrician at the end of next week -- I'm hoping the results will be in by then. Kaelin asked for dessert the other night and my husband said sure, why not. I can give you a dozen reasons why not! I finally agreed to her getting half of a small cookie with icing. She was still bouncing off he walks with that tiny bit (my husband kept telling her to calm down, she was making him look bad...) And despite having breakfast, then another breakfast before the doctor's appointment, a big lunch, a snack, and a huge dinner, she lost weight that day. Ever single time she eats sugar, she drops some weight. I'd love to know why. I truly hope this test brings some clarification!

[Charlie Arnold]

Ok, first things first. How to get her reactive for the EEG. What time is your EEG as that will help you plan. Are they doing an awake one or a sleep one?
If awake then if you think she is most likely to have them when her blood sugar is low then she needs to be hypoglycemic so give her a sugar load or glycemic load about 12 hours maybe before then no food at all so her blood sugar is likely to be as low as it would be (obviously when I say sugar load I mean what you consider a safe load for her). However if the episodes are most likely to occur after a meal then give her a triggering food shortly before the EEG, it maybe worth experimenting.

With Megs episodes alot are so quick that it takes a long time to notice them but she has more when I think her blood sugar is low. The easiest to spot are when she is chatting away and she suddenly stops as though someone has put her on pause, then she starts again sometimes with a little toss of her head. Other days she is just on a go slow the whole time and when I suddenly become aware that I am chivvying her along all the time I realise she is having a bad day.

The other problem is that metabolic seizures may not record any findings on an EEG so see what they find. I found with Megs they were so absolutely certain it was petit mal but as soon as the EEG was negative seemed to forget all about it..

Secondly, food. I'm going to start getting bossy with you!!! Sorry. By now, aside from whatever the tests show Kaelin really reacts to sugar and fructose. She drops the weight I would assume because her body goes into overdrive as soon as the "toxin" is spotted by it and therefore she burns everything off really quickly and because she has no fat reserve there is nothing left. So you really need to push on with the diet anyway to help her and get the whole family on board. As you are in America do you have access to smarties and pixie stix etc, have you tried these, if you look on the HFI board alot of them find these are OK and that would give her some treats if she likes sweets, she could then have her own safe pot to delve in. Maybe build up a reward "chart" and if she sticks to her diet, eats well etc etc she gets her "sweets".

Do you have access to glucose powder, there are many debates on the HFI board about it being good or bad but I find for these kids they need a treat so homemade puddings or cakes with it sometimes just makes life a bit more fun, and you will find a safe balance that she can cope with, I'll post some recipes that I have used, they come out slightly flatter and drier than normal cakes but Megs still likes them.

Is Kaelin off all fruit and veg now? Will type up some menu plans I do for Megs, definately with her since going back off all fruit and veg the flatulence has decreased considerably so there is my postive answer on that one. I am using some wheat but aiming for a low wheat diet.

Right, we are off for blood taking for the HFI test so deep breaths, operation keeping Meg calm commencing!!!!

sorry to bombard you, keep your chin up!

[Deb]

Hi there,
Just to add some thoughts on what Lucky said, if a child is prone to "metabolic instability" for lack of a better term, it could be dangerous to invoke an episode in trying to prep for a test. Just yesterday, we met with the endocrinologist that we had been referred to for our daughter and we were rather shocked at what she was suggesting - which was that when we think our daughter's sugar is dropping, we should test it, and if it is, we should just let it keep dropping to see how low it will go, and then try and take her into the lab at that moment to document what is going on in her blood- !!!
When we discussed it in more depth, she readily admitted that the line between falling blood sugar and hypoglycemic seizure is one that can easily be crossed -- and very, very quickly at that. I researched it as well and I feel that being in a hospital setting, hooked up to an IV in case of an emergency, is probably the only safe way to try and "invoke" anything. I understand of course the desire to get a "true" reading of what's going on, but there are risks.....
Best of luck to you!! Deb

[Charlie Arnold]

I understand what you are saying (which is why I added - a safe load in Fmmom's opinion.) However, one of the problems is that if the trigger is not in the system then nothing may show up.

This process would also depend on the child, if they are prone to violent acute reactions then yes, one should never put them into reaction without medical supervision. However if they have a slow reaction and have done for years then surely they need to be in a "reactive" state for true results. After all, this is the state they would be in on original diagnosis unknowingly if you were unaware they had a fructose problem.

This has been the case with Megs, when they finally did do any bloods or hypoglycemic tests she had been off fructose for a year so all was clear, apart from her blood sugar did go low as her body was coping quite well, so they dismissed HFI, however, altering the diet has made her worse again therefore we are back on track and luckily I stuck with my concerns rather than just believing them that all was ok. It has taken me 4 years of badgering getting to this stage as I was managing it too well at home, however due to the problems she is having now we need to know clearly what is going on to help her so now I wish I hadn't managed it so well myself.

However another way of doing it would be to discuss with her consultant, it is only because Meg has so much going on that they decided to do another EEG and further tests after the first one was negative but some would just dismiss the need to do any further testing.
Its a bit like a damaged limb, they treat you as though its broken until the Xray says its not then they just send you off with a bandage and no further advise. 10 days later it gives way because its a hairline fracture they didn't spot.

Maybe I used the wrong term "loading", although Kaelin is losing weight on sugar she is not having acute crashes so as long as her mum does it very carefully in my personal opinion they are likely to get much better answers from her tests if she is in slight reaction. Hopefully though before then you will have the results back from her gene test.

Yes, Deb, I can see your worries about the blood sugar test, Meg had that one but as you say she was in hospital with emergency treatment available if needed.

[FMmom]

Thanks to everyone for weighing in on this, I appreciate everyone's viewpoints on how to do this test.

I asked how to "induce an episode" which in hindsight makes it sound like I'm trying to manipulate an outcome. What I'm really trying to ask is the best way to recreate conditions.

For example, Kaelin says that it happens when she's tired (not necessarily sleepy, just feeling worn out). So should I serve her pasta in cream sauce the night before since she feels most tired out after a carbo rich meal?

I believe (but Kaelin has been unable to confirm) that she has more episodes in the afternoon which could be for no other reason than she just wears out by afternoon. She should get no more than four hours sleep before the test. So should I put her to bed at 2:00 a.m and get her up at six or should I put her to bed at midnight and get her up at four, which would be 4+ hours before the EEG (it's scheduled for 8:00 a.m., but I have no idea how long it takes to set up, etc. so it could be considerably more than four hours of being awake.) That would be my best attempt at recreating "afternoon."

Afternoons could be a problem for her because she tends to skip lunch and snack. So should I feed her breakfast at 4:30 and not let her have any more food?

And finally, despite my best efforts, sugar does sneak into her diet -- literally sneaking in as some friend gives her a piece of gum or a bit of candy, or when I unthinkingly put Thousand Island dressing on her salad and then realize that there's sugar in there. So should I give her a little something with sugar, like oatmeal with a bit of Golden Syrup?

As tempting as it would be to give her a bag of jellybeans and a Snickers bar just before heading into the Hospital, I'd never trust the results of that test (I'm pretty confident that would induce a seizure in me!) I'm not at all trying to create any sort of false or drastic reaction. I want to have the testing conditions that most closely resembles the life Kaelin leads everyday. However, she never gets just four hours sleep, so that stipulation is there for a reason, so maybe that is enough without me playing around with the exact sleep time or worrying about when to serve breakfast. That's what I'm trying to figure out...

Charlie -- I hear ya on getting tough with the diet. I consented to a bit of dessert that night because I'm filled with self-doubts. I got a letter from the Metabolics doctor that afternoon (I don't like the woman much -- and I liked her a whole lot less after reading through the report.) I mentioned that we had an appt with Neurology because Kaelin has these blanking out episodes. She asked questions that made it sounds like I was suggesting things to Kaelin, turning daydreaming into something more serious than it is. So I told her that this didn't come from me at all, Kaelin said "don't you hate it when you blink out?" as though everyone does it all the time. So what does the doctor write in her report? That "the mother reports that Kaelin does a lot of blinking."

She wrote that Kaelin has been diagnosed with FM, but she feels it is a "false positive". Based on what?!?!?!??! Yes, I now understand that there could be false readings, but Kaelin was sick for a week afterwards. She couldn't eat two bites without sprinting for the bathroom. Her stomach was in agony. So something happened there. Again, I was just left feeling like she thinks that I'm some sort of a kook who's taking my daughter from doctor to doctor, making up stuff as I go.

And then finally, she said that there is no reason for mom to bring Kaelin in again until the HFI genetic test is back. She has no intention of running a bunch of tests for no reason. If the HFI test is negative, then we'll see if anything more needs to be done.

After reading through that (and that was sent to our pediatrician!) I should have been angry, but honestly, I was more depressed. I felt like I was making all this up. Kaelin's been doing better since taking Lactaid, so maybe this has been nothing but an issue with dairy and I'm denying her all kinds of foods based on something I once read on the Internet. So when daughter and dad were looking at me with pleading eyes, can she please have some dessert mom? I decided okay -- but only a little.

And her weight went down ever so slightly -- and then I got angry. I'm figuring out more than the doctors have. This isn't my imagination. (And that was proven for the 853rd time when Kaelin ate a couple of packets of Sweet N Low and was acting like a hummingbird on crack. Yikes!)

So that's my story on why I let things in on occasion -- I'm always testing theories because I doubt myself so much.

[Charlie Arnold]

Oh god, reports, tell me about it. You feel like writing them for them as they always come back wrong. The recent one said Meg improved on the fodmap diet and was enjoying the variety although she reacted to oranges and tomatoes. No, she seemed to have more energy without the wheat, that was all ie the lower fructans.

The best chinese whispers was the ADHD report, I told them I was fighting depression as I was so exhausted with everything and not getting anywhere so they typed mother fighting depression. So the next report later from the neurology department came back "mother suffers from depression" NO I DO NOT I'VE JUST HAD ENOUGH OF NEGATIVE ANSWERS!!!!!

I also know that feeling that they think you are putting words into a kids mouth so I am careful not to say too much infront of Megs.

As for the EEG, it doesn't take too long to set up, they measure the head and put a few markers on with a special pen then it takes about 10 minutes to put all the leads on with a little dob of glue then plug them all into a machine and off you go. They may ask her to hyperventilate as that sometimes triggers them too by blowing non-stop for a couple of minutes on something that whirls round (can't think what they are called).
They are probably going for the sleep deprived as the brain is least likely to be inhibited therefore there is a higher chance of spikes showing up. they then induce sleep if they can to get her as deep as they can. The other way to do it is they give them melatonin to get them to sleep.
In hindsight I should have queried a sleep one with Megs as she has more when she is doing things so surely they needed to do one while she is maybe writing or reading. There is a clinic near here that do longer studies and can have them wired up for several days so down the line they may go for that if we still have problems.

They aimed for late morning with Meg to induce hypoglycemia but I gave her a big breakfast so she may not have been truly hypoglycemic as that is the other time when they come.
So if Kaelin is more likely to have them when she hasn't eaten then you are better to not give her breakfast but take emergency supplies you.

I should have typed a disclaimer to "loading" her idea, I would go with your instincts with her, you seem to be very clear on what is going on so do what you think is best to get a result. If she has epilepsy then it will show up with or without any "manipulation" of symptoms but if she is getting blanks due to hypoglycemia or toxins then it may not show any changes at all on the EEG.

In England we don't need a definate diagnosis for insurance companies etc so I can make decisions on what we do or don't do but I know it is harder in America as you do need the correct wording for your treatment. But do trust yourself, your observations in your posts show you have a very clear and deep understanding of what is going on and what sets her off so you must believe in yourself and formulate a diet that you know is suiting her. When everyone else allows you to and you stick to it and she gets better then they will eventually trust you too.

wait to see what the HFI test shows, then follow on from there. maybe it is severe FM and the dairy sugars are also involved, maybe it isn't but if it works and your lovely Kaelin feels better then you stick with it. You can always do a rechallenge months down the line with a few things and see if she can cope but for now let her system recover and heal first and enjoy life again.

I know just how much all this affects our every waking (and sometimes sleeping) moment, you doubt, you wonder, you think every second about it because no-one really knows enough about it. This is why it is important we collate all our information to help the medics understand that there is more to this than a bit of gut rot. Then, even if we have grey hairs from it future parents won't and our kids will grow up into strong happy and healthy individuals.