Update on what's not DD's 'just malabsorption'!

[nicoleh]

So our metabolic specialist (who insisted, based on a negative DNA test, that DD could not have HFI) has referred us to a paediatric gastroenterologist as he claims that she just has a very low-tolerance to fructose in a malabsorption sense, and that everything else that has gone wrong with her (kidney malfunction etc) was just the result of a high protein diet. any blood results that are not consistent with a high-protein problem he has dismissed as coincidental or insignificant, or caused by it being a finger prick etc. However none of her blood results are inconsistent with HFI.

On one occasion she has a 1/2 of a brown rice cracker (sugar free, very tiny dose fructose) and her sugars were 3.5 (just under normal) and urate up and AST went up ten points from her normal level. he dismissed all of this saying that people with HFI get sugars of like 1.2 and nearly die from fructose. Am I crazy, or am I correct when I think that a sugar level of 1.2 might happen from eating a large dose of fructose, but that something tiny like that wouldn't produce a massive crash? My GP certainly thinks that makes sense.

so anyway, he has dismissed DD as only FM for these reasons and has referred us to a paed gastro and we have been given the privelige of an appointment in MARCH next year! That's half DD's life so far again!

I do not believe it could be malabsorption because (please correct me if I'm wrong here):
-when she eats fructose, the diarrhoea does not set in as fast as for FM (I have been told just 3-4 hours, whereas for her it's 7-8 hours)
-the diarrhoea lasts for too long - hers lasts for up to a week after even a small ingestion of fructose - surely if it was just FM then once the fructose was gone from the gut the issue would be over?
-vomiting and hiccoughs start within 2-3 minutes of eating fructose - how can that be related to not absorbing it from the small intestine?
-she looks 'sick all over' when she's eaten it
-her blood tests are too suspicious

I am struggling to find things to feed her. she reacted very badly (was sick for about 4 days) to white rice! it was a fructose reaction, I am sure of it. I had cooked it by absorption, not draining the stock off. When I cooked it by rapid boiling and double drained it, she seemed ok with a small amount. I found a post from Claudia saying that Carlitos didn't tolerate rice either. I was horrified that DD couldn't even handle this much.

Last week DD was coming down with a cold and I gave her some fast-absorbing vitamin C instead of the usual form I give her. it had some soy lecithin in it, which I figured would be ok. Within minutes I thought she looked really really sick. floppy, not really asleep but not really awake either. From that point on she looked and sounded really nauseous. that lasted for 6 days and she hardly ate or drank because you could see she wasn't able to get much down without gagging. The morning after the vitamin C I took her for a blood test. her sugars were 2.3 (about 40 by US measures). That is NOT normal! Her urate was also very high. By then I thought she was looking less hypo than in the night - I can't imagine what her sugars had been at that point - I suspect in the 1-2 range.

So it looks pretty much like classic HFI. This is the first time we've had proof of a big sugar drop, but I'm 100% certain that I've seen this before.

We are trying to get in to a new metabolic specialist at a different hospital. one who is not out to dismiss HFI too quickly.
it's a long journey!

If anyone here has any ideas for carb sources that are even safer than white rice I'm all ears. It looks a bit like the rice noodles we can get here are zero sugars (cellophane noodles) but I'm not sure about the accuracy of that analysis. We had her on butter ok until she got the cold and then we backed off the dairy as that was new. but hopefully next week we'll reintroduce and then she can have cream to bulk out her diet without upping protein. So far the only carb sources I have for her are breastmilk and tapioca and cornstarch which she can only have a few tablespoons of per day.

anyway, that's our big update until we hear if this different met specialist will take us on, and when. thanks for reading,
Nicole

[ukbill]

Yes you are perfectly right, we crash because all the phosphate in our blood is tied up and there is no more to allow metabolism of glucose or Glycogen. so a lowering of the blood sugar level after ingestion shows that not enough phosphate is available.

I agree she looks like classic HFI only worse I'm afraid she is looking like a perfect example of a double zero person hence the kidney damage also.

Those of us with "normal HFI" if there is such a thing still produce a tiny amount of the enzyme in our kidneys in Fred's case this allows for the digestion of 100mg a day Fructose before he starts getting problems.

A Double Zero person dose not even have this tiny amount. hence the kidney is unable to defend itself, I assume.


This must be a totally separate mutation and it could just possibly be the cause of a lot of Kidney failures (genetic) in otherwise "normal" people???

It could just explain why kidney failure (which runs in some families) can be common and also might explain why some Diabetics suffer more kidney problems than others.

Just some thoughts on the matter off topic I know.

Which type of rice were you using? Easy cook / boil / none stick and the like can be coated in oil and par boiled in god knows what solution and chemicals before re-drying it.

Some Soy products seem to break down into Fructose or compounds that require the same enzyme for the body to deal with, Soy oil is really bad stuff!

Even Vegetable protein made form Soy is bad. which is why I recommend no pulses in an HFI diet. not only because of the fructose load but because they might be cross pollinated with soy or soy like compatible plant.

Plants are all swapping genes all the time, and hybridizing constantly which is why genetically modified vegetables is such a really bad idea.

The lengths seed manufactures go to keep their variety pure is incredible and far greater than any precaution (if any at all) used on a farm.

Best advice is to keep feeding her what you know she can eat and deal with the medical profession later.

They are unlikely to be able to offer you a "cure" or anything similar, you know what she is best on so keep her on that and let her grow.

You are doing all the right things and monitoring her better than anyone I know.

The unfortunate side effect of the monitoring is you have more info (worrying info) than anyone else so you get more worried.

Been talking to my mother a lot recently about when I was young and she has said all the Doctors she ever saw gave really bad advice and accused her of being a "fussy mother" and to just feed me normal foods.

If she had followed that advice I would be dead a long time ago.. (sorry about that Tammy )

So my advice is you are doing all the right things.. keep doing them and follow your instincts which seem to be excellent!

She has the best chances in life if you do that, because you are positively on the right track.

Keep smiling

[nicoleh]

I was using organic medium grain rice. I'm pretty sure it was pure, but I did get it from a big bag at the health food store (specially opened for me so not contaminated at the shop) so I didn't get to check the label. When I re-try her on rice I'll use some from a package so I can read the label, just to make certain. I think I might try soaking it like potatoes and doing a double water change during boiling.

any thoughts on the rice stick noodles or cellophane noodles?

I will be interested to see if she does have a mutation detected on the full gene screen, but like you, I suspect that something else might have caused this. For a start, she was exposed to a large quantity of mutagenic (DNA toxic) chemicals in utero because I had massive chemical exposures as a teenager (from industrial poisoning) and I detoxed big time during this pregnancy (because I didn't take my folate, d'oh!). It sort of looks like maybe the chemicals damaged her liver function, because they have certainly damaged mine in more ways than one, and I wasn't even growing my liver when the exposure happened like she was. I'm just hoping that large folate supplements (and glycine) might be repairing it. certainly my liver seems to be improving on this regime. I still can't get away with eating any fructose though. BAD diarrhoea from DD in the last 2 days because I ate some spring onions.

thanks!

[dryope]

I have a co-worker whose whole family has fructose problems and one cousin is a double-zero. (Perhaps they have a mutation where the heterozygotes have minor problems?) He has seen multiple specialists for this and the only solution for him is to eat rice and buffalo meat from two specific farms, both of which he has visited, seen the entire process, and is in regular communication with the farmers. All other rice and meat cause problems for him -- he can't travel for work (they forced him to once, claiming German meat was safe because of strict EU standards and he still got sick, of course), he can't eat anything beyond these except perhaps some salt and oil, but he is healthy and happy.

My co-worker is out this month, but maybe he'd be willing to get in touch with his cousin to get the details on his food sourcing. I'm surprised he's not on the boards, actually -- I kind of thought I might bump into him here.

Anyway, all of which is to say -- you aren't crazy for thinking it could be the rice.

[nicoleh]

wow, that's extreme. I wonder how meat is a problem?

Bill, on the double zero thing - my thoughts on her extreme sensitivity is that it's due to her age. I look at some of the stories from confirmed hfi babies on here and most seem to be on the extreme end of reactivity. I'm sure hoping this improves! I just had to CUT a pair of training pants off the kid and throw them in the bin thanks to yet another bowel reaction. Lucky it wasn't a pair anyone's particularly attached to!

[ukbill]

Certainly My mother has not reported (nor my older siblings) that I had any problems this bad. which is why I am concerned she might be an "0,0" I hope not. but as Dryope said even on a very restricted diet its possible to be fit and healthy.

The choice of meat thing is a difficult one. I would certainly think fish and particularly sea fish would be 100% safe.

Sea fish are carnivores and eat only other small crustations and sea creatures, so the amount of Fructose in their systems must be so very very low. Lower by far than any vegetarian mammal for certain.

All normally eaten mammals (beef, lamb, pork and buffalo etc) that live free ranging on grass pastures eat grass predominately and this will contain a little Fructose so small amounts will pass onto the animals blood stream, and may be present in the flesh when we come to eat it.

"Intensively Farmed" animals eat a totally different food which can contain all sorts of things that a herbivore naturally would not eat. So there can possibly be far higher levels of residual Fructose in the flesh.

Pork chicken and beef (not to mention Lamb) should be fine also so long as its not fed foods that contain massive amounts of sugar just before its killed anyway.

In the case of Lamb this is very unlikely.

Still think sea fish has to be the safest bet for any highly sensitive HFI.

[dryope]

Yes, I think my co-worker's cousin is missing something here. Seafood seems like the obvious choice rather than buffalo meat. But obviously I don't know the whole thing. I would like to interview him, though -- although my co-worker is pretty well informed (in medical training). Still, all hearsay to me.

Incidentally, I do suspect some weird symptoms of mine (like insomnia and constipation) may be in part due to extremely low vitamin D (which I have). Honestly, I think a lot of this is hard to tease out -- the normal background problems normal people have from what is caused by fructose.

Not to take your doctor's side by any means! Still, even if he's right, "severe FM" is still severe something. But until she's tested it's just an opinion -- and clearly medical science is not doing as much to research this as we'd like them to. I tested negative for the main HFI gene pair and am wondering if it's worth the bother of getting the expensive test for known mutations.

Sorry, I wandered off there. For white rice alternatives, why not a different brand of white rice? They will likely have varying degrees of fructose (different minuscule amounts, of course). Also more highly processed stuff may be better -- like rice flour.

[ukbill]

I do take a vitamin D3 supplement (in olive oil) which is great and I have never felt quite so positive about life.. however about the same time I went ultra low removing nearly all "tolerated" foods from my diet and that might also be responsible. certainly my IBS is far less severe now

[nicoleh]

yeah, DD could so easily get diagnosed with ibs like she is at the moment - on rice, too much starch, soured milk products (which do have traces of fructose, I'll update on that soon, it's only tiny traces, not enough to bother a 'normal hfi' I'm pretty sure) etc etc - she just has ibs-like symptoms. it's only because I've had her on plain meat before, and one new food at a time, that I've been able to see what she's reacted to and can remove it from her diet, so I know it's not some random ibs but actual predictable food reactions.

on another note our kinesiologist has been working on stuff to see if she can get my enzymes working to process fructose better so I can go back to eating vegetables. Last week I had the wrong kind of potatoes and DD had bad diarrhoea. So hopefully she will have done something to improve that as I'm going a little out of my mind - I can't even have olives!

[nicoleh]

good news! the new metabolic specialist will see us next Tuesday to start all over again. yay!

[nicoleh]

Ok, update.
The new metabolic specialist took a full history and actually really listened to us. Did not try to tell us that kids with HFI don't get diarrhoea, like the last one did. Also thought it most inappropriate for the last doctor to tell us that "we know she doesn't have HFI" based on a DNA test which is not a concrete test.
He agrees with us completely that there are significant inconsistencies between DD's condition and a diagnosis of fructose malabsorption. He thinks FM is a slight possibility, but his opinion is that she has HFI.
He told the dietician that we saw there that she presumably has HFI but that she has the less common mutation, and asked for her to be on a completely fructose free diet for 3 months, then assess her symptoms throughout that time. if she's kept fructose free and all symptoms and blood work go away/improve, then he will say it's definitely HFI.

Unfortunately independent confirmation isn't going to be available. Her blood work is almost enough anyway, what with the last hypo etc, however our only options are a DNA screen of the full gene which has a few thousand price tag attached (and we can't afford) or a liver biopsy which we can't justify putting her through seeing she is not in any danger, and seeing her symptoms make it clear that she needs this diet anyway. maybe when she's older if SHE wants to go off her diet or wants full confirmation we'll get a biopsy- or hopefully by then a DNA screen will be cheaper.

So anyway, for the moment we're diagnosed HFI as much as that can be done. I'm really glad we caught her last hypo on a blood test as I feel more certain about the diagnosis.

Not sure what to put on my forum signature now though!

[ukbill]

Good news and most certainly correct too. glad you have a possible outcome..

As I have said do not stress about the exact diagnosis if she is happy and responds well on the HFI diet then no harm can come to her by being Fructose free so long as her diet is varied enough and she gets plenty of meat fats to give her the vitamins she needs, and perhaps some liver in one form or another but then I'm talking to an expert already!

Keep up the good work.

She will grow and thrive now.