A few questions before our doctor appt

[nicoleh]

Hi All,
DD3 and I see the metabolic specialist on Tuesday. he has our DNA results already - they tested for 3 mutations, and I already know that it didn't show up at least one of her mutations. I'm not sure if the other was detected or not, it wasn't clear from the hint I was given.

I have a few questions i'd love to ask those with HFI and FM so I am armed with information and the right questions to ask the specialist.

Firstly I'd better update you though.
Since my thread on our presumptive diagnosis (the renal physician said she has HFI because her acidosis worsened when she ate some) he has further ruled out any kidney problems that might cause acidosis and essentially said he could find nothing wrong with her kidneys etc (he tested her when she was off fructose). So she doesn't have renal tubular acidosis.

Last week she found a treasure: half a brown rice cracker (sugar free, just brown rice). anyway, her blood test was coincidentally half an hour later. I didn't think she looked sick, but her sugars were low, AST had jumped up ten points, uric acid was elevated and lactic acid was elevated. This on top of her increased acidosis and elevated amino acids (the relevant ones to HFI so I am told) seems to confirm everything.

on to questions:

We have removed olive oil from her diet. I couldn't believe that could be what she was reacting to (milder reactions than to other fructose-containing foods) but her stools just weren't quite right on olive oil. In small amounts it was ok, but lots wasn't. I know the CSID database says it has traces of fructose, and the variety we get is first press, expensive stuff. it is VERY cloudy, unfiltered and the taste on the bottle is described as 'fresh and fruity' which it really is. I wonder if perhaps some olive leaves or fruit get in there? anyway, while I haven't re-done a challenge to check it, removing it from her diet does seem to have solidified her poos. I've replaced it with equal amounts of ghee without drama - so probably not a fat problem per say.

question: has anyone here ever reacted to oils - esp olive- in a fructose-y kind of way? (i.e. contaminated, not that oil itself causes reactions).

Next question: DD seems to react to glycerine in the same way as to fructose. She's sucked on the end of a fructose/sorbitol etc -free toothpaste. nothing in it to cause problems, but it's glycerine based. definitely reacted. also reacted when I consumed some supplements with glycerine in. I know there's been some mention of it in the past but I can't quite work out whether or not glycerine is only a problem in FBPase def., or also in HFI? Do any of you react to it? Do FMers? Do doctors know that glycerine can be an issue?

Most tricky question: what would you do if you were in my shoes and the DNA (3 mutations) didn't show up? I am tossing up between asking for the proper FTT or doing a very low dose oral FTT to show the docs what we're seeing (getting the timing of the test perfect and giving her a little more than with the cracker, seeing as her phosphate didn't seem to change with that tiny amount, and doing concurrent urine tests). The other option is the full DNA screen. However we cannot afford the $2000 for that. if the hospy will pay for it, fine, but...

does anyone know anything about this "full screen"? is it completely totally 100% accurate? does it pick up new, as yet unknown mutations?

also, does anyone think this sounds like it could be fbpase def instead? I doubt it, but you never know I guess.

At this point I think the spec might not want to pursue any further testing for HFI if this dna test showed nothing, but with her having hypoglycaemic episodes and otherwise classic hfi blood results, I'm very very reluctant to call this FM. Am I stupid to be considering feeding her a mouthful of fructose right in front of him and doing before and after bloods? (of course I'd only do it in hospital, just in case).

Hopefully the specialist will see her latest bloods and the opinion of the renal physician and just want to do thorough testing. but if he's dismissive of HFi like last time, we'd like to have a plan thought out about what we want to push him to do (presuming he has no plan other than call her FM like he tried to earlier). Of course if he has a plausible alternative theory of what's going with her then great! so far I'm not all that optimistic that he'll have any different ideas though....

thanks in advance, a bunch!

[nicoleh]

doctor's appointment has been postponed to late this week - so anyone - if you want to chip in! even if you only can answer one question that would be helpful!

[Tammy]

Regina is HFI. She has never reacted to anything with any oils in it. I feed her ALOT of prepackaged foods. If any oil was ever contaminated, it would probably be these and we've never had an incident with oils. And as for olive oil, she can eat green olives, so I see no reason why olive oil would be an issue.

Another point - Everyone except you has agreed that breastfeeding doesn't affect an HFI baby. The mother's liver takes care of what she eats. If your baby is affected by what you eat, I'd look elsewhere. I'm not saying it's not, just that's it's my opinion. I breastfed Regina and I ate everything. She had no symptoms until weened. I'm sure Fred was breastfed and I'm sure his mom ate everything. This is the case many times over. It is also the Dr's opinion in my area.

I can't answer what I would do if I was you. All I can say is what I DID with Regina. The doctors and I kept looking until the answer was found. There wasn't as many options back then, but we did 2 liver biopsies. The first one was only a needle biopsy. It didn't show anything. We then went with the more invasive open surgery liver biopsy. That is how we got our answer.

A blood test wasn't available when she was a baby so that wasn't a choice. We have since run the DNA blood test just to see. It comes up negative for her. So she has a mutation not yet found. Could possibly be why she reacts a little differently than some of the others on here. Only a guess on that part but seems to make sense to me. Could also be why Bill and I disagree on the tolerated sweets issues. She never had the natural adversion to it.

As for your question if the full screen will pick up new, as yet unknown mutations? Really? if they are unknown, then no, nothing will find them yet.

Could it be fbpase? That really isn't a question for anyone here to answer. We don't diagnose. There's probably more answers to that problem on Charlies board.

I would push for answers, but I would also only do what the dr says. If you stray from that he probably won't believe you anyway.

Good luck. Hope the dr is more helpful than last time.

[lucky]

Hi Nicoleh,

I know you are anxious to get definitive results for your daughter, but unfortunately, investigation takes time. Sometimes...a long time. Try and hang on.

Wait for the results and go from there.

If your daughter's DNA comes back negative, I would just ask what the next course of action is. If there are irregularities in past blood work alone, they will investigate. So try not to worry...

But yes, there are other issues. Many other issues that, depending on your daughter's current health, may need to be excluded. FBPase deficiency is but one. That is very often looked at after an HFI test comes back negative.

To answer some of your questions:

Challenging a sensitive system:
I would NOT challenge your daughter's system with potentially offending foods. You have enough clues to see a pattern of problem. And you never know, the problem you think your daughter has, may not be. Or, may just be part of a bigger issue. What you don't yet know, you don't yet know. So err on the side of caution. And the whole point of a child's health is to get an unbalanced/ill child to a thriving, stable, long term state. So, if your daughter's health is still volatile, her system is very delicate. You don't want to push things into a dangerous, emergency state.

Don't worry, your daughter's specialists will work through different scenarios and strategically test each potential issue to eliminate. In this case, each is designed for safety. Tests need not be exaggerated to find the results that are needed. In our son's case, we were told that blood work collected (in various "challenge tests") just needed to show a certain pattern. Nothing needed to be extreme. Just different than the norm.

Olive oil:
My son is not HFI, but has been on the diet for 3yrs. He doesn't like the smell, so that's good enough for us to not use it.

FM (Fructose Malabsorption):
Don't discount the punch this can pack. It can be very serious in a young child or an unbalanced/worn down body. We were told that, like in everything, FM also exists within the law of averages. For every one person that is "mild" -by default- there must also be another "very sensitive" in symptoms. However, in those that seem extreme, it is usual protocol to further investigate and exclude potential genetic issues. And... to also rebalance and heal a volatile system so it can function more manageably. Sometimes to do so, a corrective iv is necessary (to rebalance electrolytes/hydrate). Why? because, sometimes the current chaos is not due to a genetic factor, but a transient issue (like being ill enough to lose proper chemical balance/hydration). Electrolytes and hydration alone are a major factor in proper digestion (and blood sugar balance).

Reality is, sometimes medical answers come quickly. Sometimes not. Sometimes there is a genetic issue -and yet in others- perhaps their system is messed up enough that it only appears so. Ultimately, if the underlying causes can be corrected and healed, then often things are more manageable.

So...until you know where you stand with your daughter's results, you won't know what next steps should be looked into.

I would wait and follow the specialist's lead. And if you find yourself frustrated, perhaps ask what else could be causing the symptoms you are seeing (or results in blood work). Realistically, they also want your child to be healthy and thrive, and if your daughter is not content and her stool (especially) is still not normal, there is an issue. Who knows if demand nursing is just protecting her from complete imbalance, or if you or she has an underlying infection (or her intestinal bacteria is off due to the worms she recently had).... or, or, or....

I know that our son needed an iv to start fresh.
I know that w/o proper balance of all chemicals/healthy gut flora/vitamins, things can go bad.
I know that a comfortable child is a healthy child.

So something has to be off.

[nicoleh]

Thanks Tammy and Lucky.

Tammy I agree that the oil thing is weird. I am wondering if perhaps it's just that the cooked oil isn't so easy to digest so it throws off her stool a bit, seeing as her tummy has had to deal with 3 months of diarrhoea, it's probably a bit sensitive. I know that animal fats and ghee aren't affected by heat like oils are, so maybe that's why they are ok. thanks for the input.

In terms of the breastfeeding, like you said the mother's liver should take care of it. should being the operative word. In my case, I have a bad liver from chemical damage, so I think it's quite likely that I don't break down the fructose very well and it may hang around in the bloodstream for longer - or possibly as some 2ndary metabolite like the F-1-P that builds up in HFI?

When I did a search on this forum for breastfeeding, I found an adopted baby that was sick on his mother's milk but fine on fructose-free formula - I think he was diagnosed HFI. and another baby that at 11 weeks and fully breastfed had fructose in the urine, then on weaning turned out to have HFI symptoms (?diagnosis). so there are some signs, but I do think it's very variable. I know the docs don't think it goes through, but have they ever tested a mother that is a carrier of HFI - who would, by definition, process it differently in her liver? or are they only basing it on an analysis of average breastmilk - probably.

the reason I ask about the full screen picking up unknown mutations - I got the impression that they weren't 'testing' for mutations but that it was a test where they actually look at the dna and 'type out' so to speak, the dna code that is there. I think they then compare the order to that of a normal person, and if it's different, they can tell you. That is what I thought it was. but you are right, if it isn't this type of thing then they will only have the known mutations to check it against. I just don't know which it is. Hopefully my specialist will know that.

Which dna test comes back negative for regina? (sorry, as in how many mutations?)
thanks for your help.

Lucky thank you.

I really do hope that they will investigate further. but unfortunately so far the dietician, original appointment with metabolic doctor and conversations with other metabolic doc all tried to fob me off and say nothing's wrong with her other than a bit of diarrhoea. I'm bracing myself for yet another conversation where they try to tell me that she's just got FM.

I definitely wont' challenge her anytime soon. I was hoping to get maybe 3 weeks without reactions, then do a blood test to see if everything was back to normal. if it was, then maybe a challenge if the doctors are otherwise not interested in further investigations. Unfortunately getting 3 weeks without reactions is difficult. In the last week alone she has found a packet of crackers (I fished them out of her mouth just in time), has sucked on the end of a herbal throat spray that she got out of a drawer I didn't think she could open (now all of that is up higher, bad mummy) and got sick, and sucked on a fridge magnet at my mum's and it turns out it had plant-based paint pigments that came off in her mouth and made her sick. aargh! I'd have to lock her up to get her completely safe! If there weren't 2 other little girls in the house.....

but yes, the plan is definitely to get her stable first - if we have to consider a challenge that is.

Thankfully dd's stool is normal now - except for one stool after each of the above accidents. the olive oil seemed to be the last thing bothering her. I'm planning on doing a challenge with me having some fruit in a couple of weeks (if we don't need to do one for the doctors that is) to see if the milk is really bothering her, because it may have just been the oil all along.

I'll bear in mind about the IV. all of her electrolytes etc have been normal for at least one test - except her bicarb which we would try supplementing orally of course. Have to check that out too. in the meantime I don't know what her blood is like yet when she hasn't had any loose stools for a week. if we can keep her safe for a while I'll know that soon too, hopefully. For the few days when she had nothing to react to she seemed so happy and well!

Thanks a lot for the support,
Nicole

[lucky]

Nicoleh,

Just to clarify...
I don't mean wait a few weeks to start purposely challenging your daughter's system with suspected offending foods. Unless advised otherwise by her specialist --don't-at-all-- For a LONG time. Like as in many, many, many months -at the very least- unless tests and drs advise it is safe and nutritionally beneficial to do so. We had to do this for our son.

The motto should ALWAYS be: If it ain't broke, don't fix it.

* as long as your toddler aged daughter is still being monitored by her specialist and blood tests show her diet meets all her nutritional requirements. *

So, if you find a medically supervised/approved diet that keeps your daughter stable and thriving long term - then THAT'S the success. Stability is the success. Her body is now telling you what it needs to thrive (barring that all other health complications have been ruled out for causing the original distress). Once your daughter's tiny body is consistently given what it needs to thrive, it will strengthen her pure instincts for safe food choices that suit her needs. Truth is, the younger the age, the more complicated and volatile health can be. A very hungry infant/child will often eat, good or bad, out of pure necessity. And if you follow this path, not only will it make her more raw, but eventually also confuse what's left of the precious untainted instincts to safe first foods.

Interestingly, by the time our son got to a really bad situation (and at one point lifetreatening) it took awhile to undo years of damage to get back to his pure (baby type) instincts again with food. He's most of the way there, but unfortunately, occasionally still finds struggle in having no overall aversion to the smell/taste of certain "sweets" in particular. Everything else? He has fantastic instincts for. It is what it is...

So, coming from that standpoint, it is easier and safer to go with what your infant/toddler aged child's body initially dictates... and not a corrective "backwards to the beginning" approach like us.

In our situation, our son was not diagnosed with serious fructose issues till almost 8-yrs old. So that left a lot of time for damage, illness, and diet/taste confusion. Although there were definitely signs/food preferences, in hindight, it was not always very clear as time went on. Or as clear as it could have been. His system just became very worn down and confused. As such, much of his diet (and safe food instincts) had to be re-learned through later diet restriction. With that, his health dramatically increased. And only then (after even more time), did he eventually get back to the pure infant/toddler type instincts for safe foods and fructose exposure. But all this took time. It takes time to stabalize and heal. Not just weeks.

So basically, in my son's case, going back to a simple food approach long term (to wait for reactions) re-trained his brain to signal his body on good, safe food. BUT....this was only possible because he was no longer damaged and loaded with fructose in his system.

The body is remarkable and self healing if it is not indefinitely taxed beyond limit. And in it's repair, will show more clear signs if there is a true metabolic undertone to a situation. So the trick is to get it out of chaos, permanently. And then watch....

Unfortunately, everyone wants answers. But testing a raw system only punishes it further. And it hurts. It must. So why purposely aggravate it for answers right now? Let it rest and heal. Because, I guarantee that if there is a metabolic problem (HFI or other...) you will see glimpses -regardless- as your daughter ages. Yes, favorably controlling her diet may keep issues at bay, but there will still be noticeable signs during times of stress like in illness, excercise, and food accidents/exposure etc through-out childhood.

While the doctors are investigating on their end, I suggest to go with diet stability (the trick is to find that combo) to not add complication to their investigation. They are testing -strategically- so you don't want a volatile diet to compromise results. At this stage, time for challenges is only when doctors approve a safe testing method (in hospital) and control all variables (eg empty stomach, iv -for protection- measured amt of fructose, blood and urine labs etc). Your testing is just a glimpse and not controlled enough.... and just potentially delays healing.

Plus, after diet stability, it still takes many, many, many, months to monitor true long term medical benefits. This will be seen in blood/vitamin electrolyte counts, liver health, potential issues like energy retrieval/storage (excercise/fasting or need to eat/drink more often than norm), continual height growth, weight gain, tooth eruption, immune system strength (how often or how well her body handles being sick-and if there are metabolic signs *hypo, acidosis..).

All of these have been monitored for our son over the last 3yrs (as a monitoring precaution even though he has been very stable for some time). Nothing is a quick fix. So if a body is truly in a long term bad state, it will need more time to find a balance, heal.... and then show progress. OR...more CLEAR clues to another underlying (potentially genetic) issue. The reality is, that although you may see "instant" progress -or- lack of diet problems relatively quickly... that is only surface repair. It gives you a great clue that you are on the right track, BUT... deep repair requires much longer for maximum longterm stablization.

Just always remember. The road is long. But it's even longer if repeated challenges in diet are purposely made (on a sensitive system) and you have to start at the beginning again. So, *first and foremost* follow the lead of your doctors and most importantly, your child.

Cheers.

[charlie]

Well said Lucky and Tammy, not really alot to add other that a word of caution, don't try to second guess them in the testing or add you own twist as these tests are specifically developed in a certain way and they are often (especially in our case) having to be done with a careful process of elimination and if you start doing things like adding fructose unbeknown to them they you could end up seriously affecting the results but ending up with the wrong answer, and certainly in England if you were found to be doing that the hospital could take it quite seriously, or refuse to treat your daughter further.

everything must be done with full cooperation of your specialists, and although they are much more open minded than they used to be, they are the ones that have done the training and you do have to respect that or they just get blinkered deliberately out of irritation.

Unfortunately at the moment these sugar reactions in kids are an absolute minefield and it seems so obviously one condition when they are 1 year old, but suddenly when they are 5 it looks so obviously another. As Lucky has said, you need to go with what works for your daughter and stick with that for several years and hope you get your answers along the way.

[nicoleh]

Thanks Lucky and Charlie,
I would definitely like to just keep her on a stable diet! unfortunately her diet is also not medically approved. it is still too high in protein and the dietician is wetting herself about her not having enough micronutrients. she's fine while she's breastfed in that department (in my own opinion, dietician still disagrees, but blood tests show good things), but the protein is too high and on top of that I'm going mad with the crazy diet we have to prepare for her. She is ONLY having meat, ghee, eggs and cornstarch. I really feel that I need to get her on to at least one other source of carbohydrate, and would like to try butter too. The catch 22 is that if I keep her on high protein, her labs might not return to normal for that reason alone. Because her kidneys have shown signs of compromise in the past I don't have the option of doing nothing long term.

So doing the bloods after a week without reactions is essential and I can't do anything before then. after that I really want to do a challenge of me eating the fructose because I'm not 100% sure that that is a problem and at the moment my diet is really making the whole family's life more difficult than it needs to be. Of course the doctors are happy for me to do this seeing as they don't believe it goes through the breast milk anyway.....

In terms of challenging her directly of course I wouldn't do this without the doctor's knowledge and approval.

Our appointment today was okish I guess! the dna test did come back negative. He said that means she doesn't have HFI (though that 10% false negative rate is still there). He believes it's just fructose malabsorption, and has referred me on to a gastro paed. Thankfully he agreed that we should set up an oral fructose challenge with bloods before and after, which is really all I wanted to assure me that fructose isn't the cause of her blood abnormalities to date. if nothing shows on that test then I'll be happy that she's just got FM. In the meantime I'm very cautious about believing that there's nothing going on with her other than absorption issues. we didn't discuss FBPase or any further testing for HFI as the oral challenge will tell us if we need to go down that route.

Hopefully we'll be able to arrange to see the gastro paed quite soon for this. Certainly no one, docs included, think that her diet can stay as is. Let's hope potato is a go!

actually while you're "here" - do you think that potato (carefully prepared with all the soaking and parboiling etc) is safer than arrowroot starch? or tapioca? tossing up between these three. potato would perhaps be the most versatile to cook with, so I favour it for that reason.

thanks,
Nicole

[lucky]

Nicoleh,

Sorry. I misunderstood. Your technical dialogue led me to believe your daughter's diet requirements are approved and well supervised by her specialists; and that she now consistently had proper bowel movements... Apologies.

1. How long has all this been going on with your daughter?
2. Have the doctors ruled out her previous intestinal worms or other infections as causing this?
3. Could her long going loose stools be causing the irregular blood work?
4. Have *you* been excluded as the culprit (eg. possible infection thru breast milk)?
5. Do they suspect your breast milk (or dairy alone) being an issue?

* Also... in a previous post you mentioned an issue with olive oil. Is it just olive oil which gives problems, or all oils? We were once told that any oil is harsh on a raw system (and to avoid/be cautious till well healed). Perhaps that might be a possibility?

* Have doctors ruled out electrolyte/dehydration issues recently? Months of loose stools alone has to be very hard on a system (and can unbalance chemicals and lead to terrible digestion issues etc). And the younger, the easier to lose through illness.

* And lastly, starches/carbs... Have they always been a problem? I question as we were once told that too much protein consumption alone can change the chemical balance of the blood (I think make more toxic?). So yes, proper -safe- carbs are needed. What does the dietition suggest?

I'm very glad to hear of your daughter's Gastro referral. Top notch specialists.

[nicoleh]

hI Lucky,
the specialists understand why she is not on gluten, dairy or f&v and they agree that this is necessary for the moment - at least until she is stable then the plan is to trial gluten and dairy. She does have consistently good bowel movements now provided she only eats the foods I have approved to give her! the problem is that 1-2 times/week she eats something she is not supposed to have. finding a cracker, having a lolly stick land on her lap at the park (? I have no idea where on earth that came from!!), grabbing her sister's peanut butter spoon and sticking it straight in her gob etc etc. a very hard age! and all these things cause a day of diarrhoea. So getting 7 days without any "accidents" has been the problem. but yes, when no accidents have occurred, she is 100% fine in the stools department. so far we've never had more than 3 days without an accident. fingers crossed, we've been ok since Friday arvo. only 6 days to go!

she has had the diarrhoeal issues since weaning (and the vomits since birth until the day after I stopped eating fructose). of course her sloppy breastfed newborn poos were "normal" but were they really? I don't know!

all infections, cysts, parasites etc have been tested multiple times and thoroughly ruled out.. The docs do believe that the blood work has been caused by high protein related kidney dysfunction plus bicarbonate loss from loose stools. however there are still a few abnormalities that are not adequately explained to my satisfaction, so this is why we need to see her when she's not had any loose stools for a week. The specialists agree and want this done urgently. I just hope 1 week is enough (and achievable!).

So no, there's no reason to suspect that my milk or infections are involved at all. my food diary clearly shows fructose (or olive oil) ingestion on every day of loose stools. Thank God for food diaries!

I haven't tried her on any oil except olive and macadamia. possibly macadamia did cause problems but my food diary doesn't go back that far and there were other suspect foods at the same time so who knows. She is fine with ghee and dripping and other animal fats. I think you hit the nail on the head with the oils on a raw system. that is exactly what I think is happening.

She's definitely not dehydrated, we've done the rounds on that quite a few times with one specialist repeatedly saying (over the phone, he'd never seen her) that the whole thing was just dehydration, but 3 docs have now confirmed it's definitely not that at all. the unbalanced chemicals, the bicarbonate loss - yes, the loose stools have contributed. it's just hard to know how much.

starch/carbs are no problem so far as we are aware. the cornstarch is certainly fine. the only reason why she is not on more of them is that up until I realised that fructose was a problem, the only carb sources I had ever introduced were veggies and fruits (and lactose, via me). when I had to remove all fructose all carbs went too. I did not want to introduce any new foods at all while she had current diarrhoea. when I first had 2 days with normal stools I introduced the cornstarch. I had to find a fat source the next time I had a couple of days without a problem and that was ghee. now that I know olive oil was an issue she has a few days with normal stools regularly, but as I need her to stay stable for a week to do blood tests I haven't introduced anything new, but I do need to. I've actually decided that since it seems impossible to get a whole week free of troubles, and since a new carb source is so urgent, I'm going to do a food introduction tonight - after 2 normal stools since the last issue. I now know that a food reaction will only cause 1 day of loose stools generally, so if it doesn't work out, then I won't have set us back for too long. I'm thinking arrowroot as Bill seems to think that potatoes are a bit dodgy.

the dietitian ranted and raved about how she desperately needed to be given vegetables. she is a metabolic dietitian but pushes the 1-2g fructose/day diet. She said that DD "would be fine" on celery, snow peas etc. because they only had 500mg fructose/100g. The specialist and I discussed that the other day and he agreed that's way too much for DD. so much for the dietitian! (and she has reacted to those veg in the past).

I'm really keen to get in to see the gastro too! I just hope there's not a 6 month waiting list.

Thanks so much for your help,
Nicole

[ukbill]

Arrowroot is a carb / starch very like cornflour yes? I cannot see any difference in giving her cornflour or arrowroot or Potato starch (flour)

There will be some difference is adsorption rate for certain. Cornflour is supposed to be the hardest (therefore slowest) to digest, so you have to expect the others to be digested quicker.

You can try rice flour as well that can be made into a pudding with milk and eaten cold as well if cast in jelly molds.

IF she is OK on Rice Flour then maybe flaked rice or round rice (pudding Rice) might be the next step. they are certainly very much lower in Fructose than Potatoes.

IF you want to try some potatoes first try instant Mash potato (Smash is a UK brand) this made with milk and butter should be fine and very low in Fructose.

If she is OK on that then how about Semolina?

Yes its made for sweet corn but the germ is removed with the husk in the milling process. so should be quite low in Fructose.

IS she OK with wheat flour?

IF so make her some dumplings and cook them in a stew or in boiling milk as a Pudding

Hope this helps!

[nicoleh]

Hi Bill,
I thought there may be some difference in starch fructose content, especially with arrowroot, because nutritionally it is quite different and it has a natural vanilla-like, semi-sweet taste. however it has gone down a treat and she's fine with a couple tablespoons per day, phew! She's also been fine with tapioca starch, so hopefully I can make her tapioca pudding soon, if I can find some without preservatives. (we are all allergic to sulphites so not risking that on poor DD). thus also instant mash is out - all have sulphites. I thought semolina was always made with wheat and I'm not ready to try her on gluten yet. soon hopefully, but not quite. However if I can get some maize semolina that would be wonderful. I could probably make some dumplings with tapioca and cornstarch too so thanks for that idea.

What else do you put in a stew other than meat, stock, salt?

Thanks,
Nicole

[nicoleh]

uhoh, spoke too soon. Arrowroot is definitely NOT ok! 1 teaspoon is tolerated, any more, not.

however tapioca starch has been great. and tonight we tried white rice. so far so good - and she loved it! I usually only give a little bit of any new foods but she liked it so much and it just felt so good to give her a bit more of a balanced meal that I let her scoff a whole heap of mince and rice. hope she's ok with that!

I'm going to make her some nice savoury biscuits with rice flour, ghee, egg and cornstarch as soon as I'm sure the rice isn't reactive. that will be nice.

Thanks for all your help,
Nicole

[charlie]

I looked up arrowroot as I found Megs never did that well on it, found an analysis on nutrition data: nutritiondata.self.com/facts/cereal-grains-and-pasta/5677/2
basically it is high carbohydrate which may be why with the current route we are going down with her but also highly inflammatory according to them, so that maybe why. Meg seems much better on cornflour and potato flour.

[nicoleh]

HI Charlie,
thanks for that. I just looked up cornstarch there too and for the same amount, it has almost identical carbohydrate content. so probably not the carb content that is a problem. pity they don't report the total sugars in the arrowroot. I would think that fructose may be higher in arrowroot as apparently it is the whole powdered root and not a refined product like cornstarch and potato starch are. it's just ground up and dried, whereas in the other starches heat and water are used for extraction so residual fructose probably leaches out.

interesting about the inflammatory thing. in my nutrition forums etc arrowroot is usually recommended as being better than other starches because it has an alkaline (calcium) ash and because it is less refined. just another example of how the nutritious diet advice is sometimes turned upside down for these kids!

[hfimomof3]

I'm a bit confused. You said that the specialist (is that a kidney specialist) said that because her lactic acid levels rise after fructose then she must have hfi. Correct? If so, then knowing the mutation is redundant. It would be nice to know the mutation, but as far as I am aware, the known mutations only explain a fraction of the confirmed cases of hfi. So I would think that a diagnosis based on her physiological reaction to fructose would take precedence over a diagnosis (or lack of such) based on the genetic test. So I am wondering how your various doctors are able to ignore the lactic acid result. Is it that they are not all aware of her various lab results? Is it that they have some reason to discount the lactic acid results? Can you clarify this?

[nicoleh]

basically the metabolic doctor was trying to exclude HFI from the beginning. yes, her lactic acid rises and bicarbonate drops when she has fructose. yes her sugar drops, her anion gap elevates, her urate elevates, her ast goes up (though never seen outside of the normal range, it jumped up 10 points from HER normal that had been stable for 10 weeks, when she had 1/4 of a brown rice cracker) and her magnesium is high. she also has elevated amino acids in a pattern the same as you expect for HFI. BUT the metabolic specialist wants to discount ALL those results for different reasons. says lactic acid can't be relied upon by finger prick. a 2 point drop in bicarbonate is insignificant (from say 100mg of fructose! a small response is not insignificant to a tiny dose). glucose of 3.5 is normal (even though that is outside reference range and she had just had a meal so should never have been 3.5). he says that the AST rise is non-relevant since it was still just within the reference range. amino acids can be elevated just like that and it's nothing to worry about. bicarbonate has been consistently low because she has been on a high protein diet. there is an explanation for everything. but to be honest, I cannot reconcile the fact that ALL those different things happened, and worsened, at the same time, when she had just had tiny amounts of fructose. and when she has been kept 'safe', ALL those things improve!

the met specialist was looking to exclude from the beginning, the kidney spec was more open minded and looked at ALL the data at once and agreed with us. BUT he has since been 'gotten at' by the met specialist and was talked out of it (perhaps told to keep to his own specialty?). and now the renal specialist says he can't explain all her symptoms and avoids the question when I ask about hfi so I'm suspicious.

when we walked into our met specialist appointment last week the first thing he said was "good news, she doesn't have HFI" and I realised that we were not going to get anywhere with him because you simply cannot say that based on a DNA test, which is what he was referring to. I had to push him to admit that there's a margin of cases not detected by those tests.

basically I agree with you completely. but I have to get a doctor to do a proper fructose challenge because they won't believe what I've got so far since the results were not extreme. you see, he said "oh no, kids with HFI get blood sugars of like 1.2 and they crash and are hard to revive. your dd's low glucose of 3.5 is nothing like what hfi kids get". I wanted to scream "yeah, they go 1.2 when they eat an apple! she had a TINY bit of cracker! of course she didn't go that low!" and I KNOW for a fact that she has been lower than that in the past - I have seen her limp and grey and sweating and fall asleep when she had not been awake for long. the day her sugars were 3.5, I didn't even know anything was wrong with her - so she has been much lower than that in the past when I was worried about her.

my gut instincts scream at me that she has HFI. as a result we are going to talk to our GP next week about referring us to a different metabolic specialist. I just hope we can find one who is willing to do a fructose tolerance test because otherwise if they rely on the dna only then we can't get a diagnosis, and we would really rather have one properly.

I think a lot of these cases are being missed now when specialists rely too heavily on dna.