looks like the search continues...

[FMmom]

After reading through everything for CSID, I was convinced that we finally had that syndrome that would tie everything together for Kaelin. We saw the gastroenterologist today and it turns out that Kaelin was already tested for it.

Kaelin had an endoscopy two years ago, checking for signs of celiac. Apparently the biopsy also checked on levels of sucrase and maltase (he mentioned three different things they checked, I really don't remember exactly what it was.) Everything came out as normal.

And while he was very happy to see that Kaelin's weight increased, he said we've seen these periodic bursts of weight gain before and then it turns out to be nothing. She gains a few pounds quickly, then levels out (for a year or two.) So he said to keep doing what we are doing, but let's not declare victory quite yet.

He's been thinking for quite a while about doing a pancreatic stimulation, but has some reservations about putting Kaelin through all that. However, he does see the possibility of CSID despite the previous biopsy results, so he is thinking about doing both the pancreatic stimulation and another endoscopy at the same time.

Kaelin has her EEG tomorrow and gastro doc asked about the MRI. I told him that if the EEG shows something, then we are definitely doing the MRI, otherwise it's just up for discussion. He must have said four times to let him know about the MRI. Um, do you know something I don't? Yeah, he definitely thinks that the neurologist will be ordering the MRI and that may help the decision about the endoscopy. He wants Kaelin back in 3 months, but said to call him as soon as we know about the MRI because he may order some procedures before our next appointment.

Oh, and he is thinking of doing TWO more fecal fat tests, one without taking enzymes and one while taking the Creon. Sigh. Six days of eating high fat foods, recording every single calorie she consumes, then three days of collecting poop. He swears that he hates asking parents to do this test -- and I reminded him that we've already done this twice. Seriously, you can't have too many patients that have done this test FOUR times. Nope, just ones that never seem to match up to any known disorder. I believe that means that this honor is Kaelin's alone...

So we still have no answers. Kaelin's diet seem to most closely match CSID -- difficulty with all sugars and sugar substitutes and inability to eat wheat, potatoes, rice and everything else under the sun... But actual test results say no. The doctor wants me to take Kaelin to a pain clinic. He's also still working on getting her an appointment at the Growth and Nutrition Clinic where they have nutritionist and psychologists along with the gastroenterologists to make sure that she doesn't become afraid of eating. However, they only see kids up to the age of six. He said "we're still working that out." It's been three months. Something tells me the clinic is fairly adamant on their age requirements.

Wow, I was so convinced that we had the answer -- and I still think the possibility exists. After all, before we did the hydrogen breath test, I was told that Kaelin did not have FM symptoms but it was worth a try because she never does seem to follow any known path. Maybe when the endoscopy is specifically looking for CSID, they may choose a different area to biopsy. Frustrating, frustrating, frustrating!!!!!!!

[Charlie Arnold]

Hi fmmom,

yes that is frustrating, but interesting they did already check for it way back. On the info sheet it lists several tests, breath test and 2 different biopsies so I wonder if they need to do all three incase one doesn't show it. Or maybe a trial run with sucraid?

It is so hard when you come across something and say wow, that is what this is as sometimes it is easy to read symptoms and match them with what you are experiencing, then eventually find it isn't that. Then you find something else and off you go again. I know because I have done it. But I must admit this does sound very like Kaelin and Megs. Maybe a trial with sucraid as well as continuing to limit the diet wouldnt hurt.

Have you got the gene test results yet.?

Anyway, good luck tomorrow, will be thinking of you...... and through your night of wakefulness, having been there myself. Lots of coffee, lots of games lined up. 3 am is the worst bit, and was when we gave up I must admit, but by then Meg was very tired and still nice and sleepy for the EEG.

[FMmom]

I was also wondering if the doctors need to do a variety of tests. It feels like overkill and I don't want to put Kaelin through too much, but I also don't want to miss a possible diagnosis.

Right now Kaelin has CF, asthma, PI (pancreatic insufficiency), ADHD, FM, lactose intolerance, and a possible sensitivity to salicylates. Or she has CSID which could explain each and every one of those conditions -- so I just can't let go of this.

It was absolutely devastating to hear that Kaelin's already been tested. I assembled what I thought was a pretty strong case for testing and I have no doubt that the doctor would have agreed. But now that I know Kaelin's been tested, my argument has to shift to "the doctor didn't do the endoscopy correctly" and that's a harder argument to make.

I've been trying to re-find and reread all the articles I've seen on CSID because I remember just bits and pieces. I know it's hard to diagnosis and I remember one article said that testing should involve a biopsy AND the breath test. I wish I knew what Kaelin's levels are -- is she just barely within the range of normal? If a different lab (specializing in CSID) looked at her numbers, would they make a different determination?

I remember when I first read about FM and I just knew this described Kaelin. I immediately contacted our pediatrician and asked if she could have Kaelin tested. She did a stool test and the results came back that Kaelin is not malabsorbing fructose, so she's fine. I just cried. I absolutely knew without a doubt that Kaelin had a huge problem with fructose. I didn't concede the point, however. I mentioned it to the nutritionist and the gastro doc. Thankfully he did the breath test even though he felt that Kaelin didn't meet the criteria.

Over the last year, I've discovered that there are different ways to interpret the breath test. I thought it had to be a reading of over 20 for three breathes in a row. But then in one of the FM boards, someone said that the criteria is that the first reading is at least 10 points over baseline -- it's all about instantly rising, what happens afterwards isn't as important. Another person said that the nurse at her hospital said that timing wasn't an issue, the numbers are what is relevant. Her son's top number was in the 80's, so he had a "very severe" case.

So here are Kaelin's numbers:
Baseline: 3
15 mins: 7
30 mins: 89
60 mins: 196
90 mins: 209
120 mins: 230
150 mins: 200
18 mins: 180

So for Kaelin, under the oldest method, she was positive; under the second scenario, she doesn't even have FM; under the third, she has an extremely severe case. Which is true? After one doctor told me that she thinks Kaelin had a "false positive" and her gastro doc was thinking of retesting to make sure it wasn't a false positive -- I have no idea of what to think about any of this. Apparently interpretation is everything.

So maybe there is some CSID interpretation that needs to take place for the biopsy. Maybe things aren't quite as black and white as it appears right now... Maybe the appropriate breath test would be a better method. Maybe we need to do both.

Maybe I need a break.

When I first read about FM, I knew without a doubt that Kaelin had it. But removing fructose wasn't enough. Fruits that should be okay in very small quantities, like blueberries, were never okay. No sugar or sugar substitute works. So I tried the HFI diet, and while it's better, there are still things that don't fit.

Our pediatrician sent us to see Metabolics because she thought there must be some metabolic condition that could tie together all of Kaelin's issues -- and Lucky found it. This has to be it. I cannot believe that Kaelin suffers from the seven conditions I mentioned above rather than the all-rolled-into-one CSID.

We see the pediatrician on Thursday. Maybe she'll be the one to ask gastro doc to do the 13C-breath test... Or maybe I'll ask him myself -- I'd rather start there before doing two more fecal-fat tests and another endoscopy.

Okay, on a lighter note... We saw gastro doc on Tuesday and as we were leaving, the building was plunged into darkness. On Wednesday we had to go to a completely different satellite branch of the hospital for Kaelin's MRI. The techie got three sensors on Kaelin's head before the electricity went out and we were plunged into darkness yet again. I used the flashlight app on my iPad so the techie could finish wiring Kaelin up so we'd be ready to go when the lights came on. It took FOUR hours before they came on. Yeah, after only four hours sleep the night before, Kaelin had to lay on that table but not fall asleep. It was not a fun morning. At all. They did offer to let me reschedule, but then we'd have to stay up all night another night? No thanks, we'll wait it out. Oh the joys of doctor visits...

[Charlie Arnold]

Oh, Fmmom, what a time of it you had, maybe someone, or something was trying to say Don't have the tests they are a waste of time!!!!???I bet that was a real test of patience, I know how I felt with Megs one when I heard the consultant wasn't coming after all so we could have had it done more locally.

Now, this breath test I am very confused about how they interpreted your readings, I was told that anything over 10 is a reaction over 20 is positive last time we went. So basically Kaelin blew the graph. It is reading the hydrogen molecules in the breath which are emitted if they cannot absorb the sugars being tested. If they are reacting the reading will surely stay high for quite a while. Megs readings went from 3 to 65 to 124 and at that point they started rushing about a bit just incase so Kaelin, well, that looks like really severe.

It may be worth emailing Sue Shepherd in australia as she seems to be a leading light in FM, she may be able to clarify.

If they are misinterpreting that then there is a very high chance they misinterpreted CSID tests so it may well be worth pursuing.

I like you, have kept asking, is everything related or not, mainly because of the erraticness of the behaviour , energy levels and concentration etc. Or is it all down to fructose and we need to put our heads together better to form a balanced but non reactive diet.

Hope you've caught up with your sleep, and well done with sticking with it.

[FMmom]

Sorry for the confusing comment -- but my mind is all jumbled anyway. I'm not fully coherent, I guess...

Kaelin's gastro doc absolutely interpreted this as a positive FM outcome.

At the appointment where he decided to run the test, we were talking about Kaelin's diet. The nutritionist thought that Kaelin may be hypoglycemic, so she wanted me to give Kaelin Glucerna bars and drinks (they are protein bars and shakes designed to regulate blood sugar.) Well, Kaelin went about 30 shades of crazy while eating those (turns out they are filled with inulin) so I stopped giving it to her. I had already cut out anything with HFCS, I had cut out a few fruits, anything with food coloring, pasta, anything with brown rice... The list of unacceptable foods was getting longer and longer and I had no idea why she reacted to any of it.

Gastro doc said that he was extremely concerned with how many foods I've removed from her diet and he couldn't approve of it. He asked a bunch of questions about stomach pain and I said that maybe, just maybe Kaelin doesn't even know she's in pain because it's all she's ever known. He said that he couldn't defend the test to his colleagues, but Kaelin's always been a mystery, so he was willing to run the test anyway.

And sure enough, while taking the test, when the nurse asked Kaelin how she felt, she said "fine" and I said "I thought you said your stomach hurt." She replied "I always feel this way when I eat." Her poop turned to water within a half hour, she spent six days running to the bathroom after eating two bites of food... I called gastro doc to get the results (the report takes two weeks, but I decided that I couldn't wait -- Kaelin was in bad shape and I needed him to look at the raw data and tell me what was going on.)

Gastro doc didn't give me the numbers -- but after telling me that I absolutely must add foods back into her diet, he was now telling me to remove "everything". And when I asked if he meant an elimination diet for six weeks, he said "probably forever." Yeah, he definitely felt she has FM.

It was on one of the FM boards where someone said her son was considered positive but I just couldn't see how he met the criteria -- and it's such a drastic diet for someone to follow if it isn't necessary. Of course I forget the exact numbers, but she said that her son had a baseline of let's say 3, then the first reading went up to 14, then the next reading went up to 24 and then it stayed even or went down, but he was considered positive at that point. I was shocked -- under that interpretation, Kaelin wouldn't be considered to have FM because her initial reading only went up to 7. The next one shot up to 89 -- but according to this mom, that would be irrelevant. (I'm not buying into that interpretation, by the way...)

There was another discussion about how positive is positive, the actual numbers are irrelevant. Then someone said a nurse told her that the numbers are absolutely relevant and higher numbers mean a much more severe case.

And then the metabolics doc said she thought this is a "false positive" -- so the point that I attempted to make is that the same results are seen in so many different ways by different people. So maybe, just maybe there is something about Kaelin's biopsy numbers that could be open to a different interpretation.

And if you completely ignore the numbers, not even try to interpret according to some chart, we still have all of Kaelin's physical reactions to fructose. As I said when I called the doctor's office for the results -- "I don't care what the test results say, just tell [gastro doc] that she is really sick from this test and I need to know what to do." Gastro doc called within the hour to tell me to remove all offending foods, leaving her with nothing more than meats, poultry, and white rice. So different people can tell me that she doesn't have FM, but I know without a doubt that she cannot handle fructose. I wonder if the same would happen on the CSID breath test. I think the physical reaction is way more telling than some seemingly arbitrary criteria that no one can agree on...

So who knows what the truth actually is. Kaelin's made drastic improvements since following the FM diet in her behavior if not her weight. Her weight made improvements once I switched to the HFI diet and added milk. However, the milk means that I've had to add a ton of Lactaid and Miralax. And I'm not sure that either of those things work well for her. Behavior problems are creeping back in... It just seems like for every change I make, I need to add in another medication or remove another food. It's all so frustrating that nothing adds up the way I believe it should.

All I know is that right now, Kaelin is sick again with a barking cough and she's losing weight -- and doesn't feel like eating anything. Sigh. Gastro doc was right; it's too soon to call her weight gain a victory because it always seems to disappear. Sigh.

The biopsy is pretty definitive so everything is telling me that she can't possibly have CSID -- and yet every fiber of my being says that this simply must be the answer.

[FMmom]

Okay -- I'm becoming overly obsessed with this (I truly do remember this is an FM board! Sorry!)

A definitive diagnosis of CSID can be made by demonstrating absence of sucrase-isomaltase in the small intestinal biopsy of the distal duodenum or proximal jejunum. Several noninvasive diagnostic methods include the sucrose breath hydrogen test, sucrose tolerance test and differential urinary disaccharidases. Each of these approaches has its advantages and pitfalls. Another possible noninvasive approach to the evaluation of suspected CSID is to conduct a therapeutic challenge with sacrosidase. This is especially helpful in settings where small bowel biopsy with disaccharidase level determination or breath hydrogen testing is difficult or inconvenient to perform.

snip

Several tests exist to make the diagnosis of CSID. Invasive testing with determination of intestinal disaccharidase levels is the gold standard. Several important factors affect the accuracy of such testing including biopsy location within the small intestine, number of biopsies obtained and tissue handling after biopsy. Upper endoscopy with small bowel biopsies was not performed in our patients as it was hard to ethically and economically justify in patients who had normal appetite, growth and development. Sucrose breath hydrogen testing has been validated in children with sucrose malabsorption. This was offered but only accepted by two families. False negatives occur in non-hydrogen producers in less than 5% of children in the absence of other causes such as recent antibiotic use. Much higher rates of nonhydrogen producers (up to 20%) have been reported in adult studies. High baseline hydrogen breath levels, as noted by one of our patients, can make this test less useful and may suggest small bowel bacterial overgrowth. We opted to use a short sacrosidase therapeutic trial to assess for clinical response. The limitations of this approach include difficulty in differentiating sucrase deficiency (primary or secondary) from high sucrose consumption (although this was supposedly minimized or eliminated in our cohort). Confirmatory testing, preferably with small bowel biopsies, should still be performed prior to committing patients to life-long sucrose free diet or sacrosidase supplementation.

from Sacrosidase Trial in Chronic Nonspecific Diarrhea in Children
Riad M. Rahhal* and Warren P. Bishop
www.benthamscience.com/open/topedj/articles/V002/35TOPEDJ.pdf

And for the scientific among you, here is an article that discusses different ways three biospy samples were tested www.jci.org/articles/view/9677. Sadly, I can't understand any of it, but it seems to build a case for why samples need to taken from a particular spot and handled in a particular way.

When Kaelin had her endoscopy, they were looking for signs of celiac. I don't know if they performed an accurate biospy for CSID or just tested their extra celiac samples for disaccharidases. So maybe the operating doctor really didn't take the biopsies from the optimum spot or handle it per CSID guidelines. I will talk to the pediatrician next week and see what she thinks.

As I said before, it would be really easy to tell our beloved gastro doc that we'd like to do this test -- but it's a touch tricky to say the first one was done wrong. He wasn't the one who performed the endoscopy, but still, it feels like I'm telling a doctor how to do his job and I am most certainly not in a position to do that!

[Charlie Arnold]

Don't worry, feel free to wander off the subject if it gives you help to reach a diagnosis.

Often these boards are useful in that you come looking for answers to what you think you know, then someone posts another idea that makes more sense, but without that info you could still be in the dark.

As for the testing, I do wonder if you are right and the biopsies need to be more specific, it looks like they need to be taken from several areas of the bowel.

Also if this is a genetic mutation then can they do a gene test for it near you, I'll google the link I found the HFI test on and see if there is anything. Or maybe contact the society that posted the CSID info. Its worth looking into, it would certainly explain alot of Kaelins' symptoms. I have posted on the HFI board that I wonder why they don't just test for all sugar absorption mutations at the same time.

As for telling the docs their jobs, I agree you feel you shouldn't be telling them what to do, but at the end of the day, you are better to make observations and suggest ideas as you live with her day by day, and boy do we know these can swing round pretty fast. I ummed and ahhd before I sent my letter off to our gastro doc but did in the end. It is worth putting it out there as our GP agreed when I took Meg in to see him mid reaction so he could document how she was. After all, its not like its a common problem so won't immediately spring to mind as a diagnosis, and its not like you are wheeling her in and doing the tests yourself!!! All they can do if they don't like it is bin it!!

[FMmom]

It made me giggle just a little that you brought Meg in mid-reaction just so her doctor could experience it... Kaelin was ALWAYS in mid-reaction, but none of the doctors knew it until we started the FM diet. The pediatrician told me that the nutritionist, gastroenterologist, and pulmonologist all noted that she was noticeably calmer, more focused, less anxious, and more social. (The Pulmonologist was completely unaware that her diet had changed, he just noted her behavior because it was such a change from previous appointments.)

The first time I ever let Kaelin chew gum was just before we met with gastro doc a few years ago. It helps my other daughter calm down, so Kaelin had been pestering me for weeks to be allowed to chew while at the doctor's. Let's just say that it was not calming. Gastro doc observed her for about 10 seconds and asked if she could handle gum because not all kids can. It's her first piece and I'm confident it will be her last! Too bad that performance didn't set off some alarms for gastro doc... It may have saved us three years of looking.

Just before Kaelin was tested for FM, we met with the nutritionist. She saw us in the waiting room and chatted for a second, then went into her office while Kaelin was weighed. Kaelin was starving so I gave her the Glucerna bar the nutritionist recommended. So when we were led into the office five minutes later, she saw a substantially different child. Kaelin's voice went up several decibels, she was jumping off the furniture, she was really mean to her sister... (Since we were talking about the diet, Kaelin went back out to the waiting room) At one point, older sis leaned over in her chair so that we could see her in the doorway and she mouthed "help me. Help me now." and slowly sat up straight, disappearing from view.

The change was drastic enough that the nutritionist researched why Glucerna would be that bad for her, and it could only be if Kaelin had FM and was reacting to inulin. All this made it into the report for gastro-doc, which is why he wanted Kaelin to be tested even though her symptoms (no complaints of pain, constipation rather than diarrhea) didn't met the FM criteria.

Having the doctor or nurse or nutritionist bear witness beats a Mom's 9 year observation any day, sadly...

[FMmom]

I mentioned CSID to our pediatrician. I told her that even though the biopsy was negative, I still can't let go of this -- it can explain everything about Kaelin, back to infancy. Sigh.

I know that the biopsy is the gold standard -- but is it possibly that they missed it since no one was thinking CSID at the time? She said that could really make a difference. A positive result cannot be disputed, but a negative could mean they didn't biopsy the correct place. So if CSID testing is as particular as some of the research seems to indicate, it's entirely possible that Kaelin may need to have another endoscopy -- one where CSID is the stated goal.

I then mentioned the report I read that said the breath test was as accurate as the biopsy. Not that I want Kaelin to drink a substance that makes her sick, but I do worry that if the doctors don't do a lot of testing for CSID, they could miss it (again?)

She is going to talk to gastro doc about the best course of action. I have a sneaking suspicion it's going to involve me and a rubber room...

On the plus side, Kaelin had another one of her upper respiratory weird ailments where she generally ends up dropping a pound or two. But this time she only lost about half a pound. Woo hoo. (I'll take victories wherever I can get them...)

We go back in three weeks for another weigh in -- and then the pediatrician goes on leave for three months. Yikes. She said that she thinks it's really important to put a name to all of Kaelin's eating ailments before she moves to a different school in September, if at all possible. She'll be chatting with gastro doc between now and our next appointment, so we'll see if either or both of them think that CSID is worth pursuing a little further.

It's just killing me -- one of the reasons that gastro doc never considered FM in the first place is because I only complained that Kaelin completely changes personality when she eats sugar -- any sugar. In three years, I never mentioned fruit as being a problem. If her hydrogen breath test was off-the-charts high, I'm curious what would happen when we measure the substance that she always reacted to...

[Charlie Arnold]

She would probably blow the roof......... and you with it.,..................

I think you are right to persevere and push for CSID, I do wonder if the biopsies weren't done right. Maybe email NORD who produced that article Lucky posted, they may be able to pass on more specific info or where the tests may be done more accurately. As you said, if you can get a proper diagnosis before she changes school that will really help her and the staff to support her properly.

This is such a slow long-winded process of diagnosis because these conditions are so rare, but with a bit of prodding in the right direction who knows.......