HFI, FBPase deficiency, or???

[deb]

Thanks for the encouraging stories re Disney! I have been wary of breaded items because sometimes they can contain onion powder, which really doesn't sit well with my daughter - but it sounds like you have had good experiences. I also usually go for the pesto for her when I can, but she is shying away from it lately after a recent reaction to some pesto that contained cashew nuts - not sure why those were so bothersome as she does okay with (unsweetened) peanut butter.

To echo your comments, Tammy, my daughter also seems to just "want" the sweets but when given them, will take only a bite, say it is too sweet, and/or complain that she feels nauseous. That was with sugar-sweeteened items, however - she has a bigger appetite for food sweeteened with pure dextrose.

We did get some great news yesterday- I got a call back from the nurse at the children's hospital and she told me that she can help our daughter "jump the queue" and she should have an appointment in about a week's time -yay! I know from this forum, and reading etc., that we will definitely not agree to do the fructose breath test again or IV fructose challenge, but am trying to find out more information on the glycerol challenge, which is apparently helpful in diagnosing FBPase deficiency. And of course there is Dr. Tolan's genetic test...we are still undecided about the biopsy... is there anywhere in this forum where people that have had the biopsy discuss their experiences?

Also, just wondering for those of you with children (or if you remember back to your very young childhood) , when they/you were very young did they/you wake frequently in the night from hunger? Our daughter did, although we didn't know what it was from, and our son, who has been weaned for about a year (he is 3), wakes all night long, often complaining that he is hungry. We have been reducing his fructose as well, and have just started feeding him at night when he wakes, and this seem to be helping; he still wakes, but less often - unless he's had fructose in which case he wakes more frequently. (Should I move this question to the thread for younger children? - not sure what the proper "forum etiquettte" is here!) Thanks ;-) Deb

[esmee]

Roman, another memeber here, told me that in order to get a good specimen, they actually need to do surgery and open you up for the liver biopsy. Apparently the specimens from needle biopsys are not always good enough. He is a scientist at UCSD and he will not allow his wife (whom he suscpects has HFI or FBPase deficiency) to undergo a liver biopsy, which I think says a lot. However, it is the most definitive test available in determining which enzymes are missing. I think a fructose tolerance test (by IV) is also very accurate in diagnosing fructose intolerance, but it will not tell you which enzyme is missing. I have never heard of the glycerol test, but I would definitely like to know more about that if you find out anything more. I have always had a bad reaction to glycerol. I didcovered this by accident when trying to take alcohol-free herbal tinctures that were prepared with glycerol. I was always stumped by my reaction until I came across a post on this forum where someone else mentioned glycerol as a problem. Do people with FBPase deficiency have more trouble with glycerol than people with HFI?

[esmee]

I am the same way Fred. I always have to eat something late at night. I have tried for years to change this, as all the research says it is not good to eat late, but I just can't seem to do it.

[susan]

I second that. I am an adult and I too want to eat something such as crackers and milk or cereal and milk at bedtime. The milk would have Tryptophan which is a natural calming agent. The carbohydrates might encourage the production of Serotonin which may enhance the feeling of well-being.

I also usually "graze" all day long. At bedtime I might be hungry. Furthermore, I want to keep my blood sugar steady throughout the night.

I just remembered something....as I kid I liked hot cereal or porridge with milk at bedtime.
Susan

[ukbill]

I will third that I to cannot sleep if too hungry .. it feels like I have big hole where my stomach is and its slowly eating the rest of me.. plus feeling a little like a mild HFI reaction..

I cannot eat too much Cow fat like butter or cream and certainly not cheese before bed. otherwise I'm waking up every 5 min usually after a really nasty dream.

I also have to eat before I can see properly in the morning.. seems to tale me about 25 min after eating before my eyes "kick in" unless I have had a good feed before bed (steak sandwich! yum! )

Then my eyes are fine right from wakeup.

Esmee that info on Gycerol is important we need to know more about that.

I also need to update my Medical alert Talisman I wear when I go out somewhere I am not known.

When I loaded the initial data onto it I did not know about Sorbitol being used in IV pain killers like morphine!

German hospitals apparently use Fructose and Sorbitol in most of their IV fluids.. and have been known to kill at least two HFI brothers this way!

Nearly all European health services have now removed both of these form their IV infusions.. Germany refuses for some reason.

I think Belgium as well.

[colormist]

Deb - All nuts contain fructose. Cashew nuts have way more fructose than peanuts or almonds. I can tolerate natural peanut butter and salted almonds, but cashews have always made me very queasy (even before I even suspected I had a sugar intolerance).

I never knew some people made pesto with cashews. Yet another product to worry about.

[charlie]

Deb, I've brought an old post up that I made about sleeping for you called 20 sleeps to keep this subject relevant.

I am in the process of trying to plan a bedtime drink that may keep more sustained blood sugar during the night for these kids but otherwise a porridge - type snack before bed works well. Also the less fructose in the diet the less irritated the bowel will be which may be another reason for waking up.

Yes, onion products definately out for HFI and nuts mostly as well.

[deb]

Hi again - Thanks for all of your helpful replies! Fred, yes, both kids clamor for food right before bed (even if they've just finished dinner) - and so now we have been trying to give them milk and cheese before bed (because that is what they ask for) and my son, who wakes up like clockwork three to four hrs after falling asleep, has been having milk and cheese when he wakes, and this has helped tremendously - he has now slept for the rest of the night after his waketime-snack for the last three nights!
Charlie, thanks for bumping up that sleep thread, and please let me know if you come up with a concoction that works-- we tried raw cornstarch but it didn't seem to work better than milk and cheese. That said, I came across a product called Super starch that has been shown to help maintain nocturnal blood sugar better than cornstarch - have yet to look into getting that- here is a study on it:

www.emeraldinsight.com/journals.htm?articleid=1852868&show=html
and a link to the product:

ucanrun2win.com/super.html


Scary thoughts re the biopsy-- I am actually a nurse and this is both a blessing and a curse when it comes to my own family's health- I have seen the mishaps, the routine procedures that go wrong, etc., and am wary....

We have been bumped up to this wednesday for our appointment with metabolic diseases, and I am trying to find out what I can about the glycerol challenge test in the meantime. Apparently, glycerol is poorly absorbed in FBPase deficiency - I am not sure if that is the case in HFI as well but it sounds like some on the board have had problems with it too...I just don't know yet if the dangers with the challenge test are the same as with the fructose challenge...

Thanks colormist for the cashew info - that makes a lot of sense. I find it's often like that - where I will assume that one type of food (e.g., pesto) is safe and then realize it may be made with cashews, or soybean oil, or something else that is questionable...

Speaking of which, what kind of potatoes are safe to eat? My daughter seems to do fine with chips, but we haven't had as much luck with french fries, including some she had tonight that really didn't agree with her, even though they were only seasoned with salt and oil. I think I remember reading something about old versus new potatoes, or small versus large perhaps?

Back to the hypoglycaemia for a moment- I took my daughter bike riding today and even with fuelling her up before hand and offering her dextrose and snacks immediately after, her sugar was very low. The dextrose helped but it took quite a while before she totally normalized -- does anyone have any tricks/tips as to how to make exercise-related hypoglycaemia more manageable? She is actually very active and this has always been a challenge.... Thanks ;-) Deb

[ukbill]

I find eating lots of meat the day before usually helps.. and a good breakfast a couple of hours before starting the heavy work.

When I lived on a farm we always had for breakfast Porridge, eggs & bacon (possibly sausage, beef burger and black pudding as well if available) and toast with butter before starting anything strenuous.

It is a case of stuffing the food in even if not hungry

Varieties of Potato are important, I can only tolerate a couple of varieties, but in all cases if you are making chips, roast potatoes or even Mashed potatoes peal, chop into chips, quarters (if doing roast spuds) or into even sized chunks for mash, then soak in a large quantity of water for an hour or so to let the Fructose dissolve out into the water, if possible change the water, certainly if then making mash and roasts, par boil for roasts before removing allowing to dry (about 3 min) then roast.

If making roasts I use a Garry Rhodes method.

I put the still hot par boiled potatoes in a bag containing seasoned flour and shake them to coat all over, then add oil to the bag to wet the potatoes all over again.

I then tip the contents into a roasting pan spread them out and pop into the hot oven.. they turn out beautiful!

You have to get the amount of flour right or if you have used too much tip the bag out into a sieve to remove excess flour then back into the bag to add the oil.

The double water method really makes a difference even to Mash potatoes.. I can really feel a benefit from eating potatoes cooked this way over just straight cooked or baked (in their jackets) which go straight into the oven.

As a rough guide to buying potatoes. Reds are usually out (as are sweet potatoes obviously) yellow fleshed and "waxy" are usually sweeter then "floury" varieties.

Hope this helps?

[colormist]

Also, some french fries are preserved with fructose (or other sugars)--so if they're frozen, then you should probably check the label. If the restaurant makes homemade fries, just ask what type of potatoes they use.

I generally don't have a problem with potatoes (unless they are sweet, new, or red).

With exercise, the only thing I found that helps is: eat protein and carbs 30 min before exercise (Absolutely NO tolerated food, i.e. red wine vinegar). Exercise. Drink milk or medical grade dextrose-water mix while exercising. Eat something small after exercising (like crackers & cheese).

The whole process is ridiculous, but that's the only way I've found that works. You could also try to split up a meal--have half of dinner/lunch before exercising and the other half after exercising.

[lucky]

Hello all, I'm Lucky...

I may have some information that may be of assistance to Deb and others looking into Fructose 1,6 Bisphosphatase Deficiency (FBPase Deficiency).

We live in Canada. Two years ago in 2010 (when our son was 8yrs old), his FBPase Deficiency DNA testing was sent out of the country to Sheffield, England. We were told that there are only a couple labs in the world that perform such testing (and reliably) as it is so rare.

If your Metabolics (Genetics) team already has a sample of blood from a previous HFI test (like ours did), then a new sample may not even need to be taken from your child to send off for the test.

Alternatively, an in-hospital "Fasting Test" may also be performed. There are 4 metabolic disorders that do not do well under fasting situations... one of which involves fructose issues (FBPase deficiency).

This may be an option that can be discussed with your Metabolics team in order to explore it's value. Our son has had all three tests listed above (HFI, FBPase deficiency, Fasting test) as part of his "fructose issue" journey.

Here's some info:

Sheffield Diagnostic Genetics Service (SDGS) :
-Sheffield Children's Hospital, Sheffield, U.K.-
www.sheffieldchildrens.nhs.uk/our-services/laboratory-medicine/


* FBPase deficiency test : 4th test listed on the 7th page
sch.nhs.sitekit.net/downloads/labgenetics/LabGenetics_FullA-ZListOfGeneticTests.pdf


Diagnostic Breakdown information from Metagene :


* Hereditary Fructose Intolerance : (HFI)
metagene.de/program/d.prg?id_d=129

* Fructose 1,6 Bisphosphatase Deficiency : (FBPase deficiency)
metagene.de/program/d.prg?id_d=128


Please let me know if I can be of further assistance.

Best wishes,
Lucky.

[ukbill]

That's Great Info thanks!

I think your post should be copied and put in Misc under its own heading as a sticky so its always available to all.

I have sent the links to the chap I have been e-mailing.. I think it will help him

Regards

Bill A.

PS Welcome to the site

[deb]

Hi again ;-)
Thanks for those tips re the hypoglycaemia, and thank you very much for that info and those links, Lucky!

We had our appointment on Wednesday with the metabolic dr at our children's hospital and, well, it was a lengthy and somewhat frustrating experience. Because of our daughter's positive hydrogen breath test and negative genetic test, the dr was very skeptical of HFI or FBPase as possible culprits. Has anyone on this board been firmly diagnosed with HFI or FBPas deficiency that had a positive breath test?

I finally got a copy of all of her bloodwork and saw that the genetic test she had for HFI was done at Baylor, which I understand to be more sensitive than the one that Dr. Tolan does, although I am not entirely certain of that?

I am going to request the FBPase test too - although the dr was reluctant because she has never had liver involvement.

I did discover two other things in pouring over her labs (that date back to 2 years ago) that really threw me for a loop:
- High fasting insulin. Diabetics have high fasting insulin and high blood glucose--she only had the high insulin, which is definitely not normal - but wasn't examined at the time and needs to be explored further. Interestingly, if she is indeed hypersecreting insulin for some reason, that might explain (at least partially) her sensitivity to fructose, which in rat studies has been shown to increase insulin - it may be what "pushes her over the edge".
- She also had low carnitine levels documented a few times and I don't know what to make of that either.

We continue on with as little fructose as possible and hope we will find some answers.....

[angelad]

Hi, Deb,

I just wanted to give you a word of encouragement. We are desperately trying to find out what's going on with our kiddos (and my husband and possibly myself) with regard to fructose and hypoglycemia. I think my first post from last fall gives our story of how things started and I added a post last night to the adult section, even though it mentions my two year old. I put it there because the FBPase deficiency issue came up. We have had the genetic testing done - Dr. Tolan's test showed one daughter and my husband are heterozygous for one HFI mutation. A complete DNA sequencing through Baylor turned up nothing else. HOWEVER, we also did the FBPase testing through Baylor (only for my two year old so far) and he is homozygous for FIVE (yes, five) mutations on the FBPase gene. None of them have been proven so far to be cause problems, but the report says that they "cannot exclude the possibility" that the variants are not benign. In other words, the gene is not fully characterized yet. I suspect that they may not all be deleterious, but they are not all benign, either.

Please feel free to read my other posts. I can give you some of the links to information on FBPase and hypoglycemia that are very interesting...My children's symptoms are gone on the diet I mention in the other post in the adult section. Even things like leg pains, panic attacks, tingling in arms and legs, reflux, inability to hold urine (wetting pants), constant crying, not being able to sleep. I've found explanations for other symptoms like low muscle tone, learning difficulties, and the shaking and trembling my son does in his sleep. Who can focus on school when your blood sugar is in the 60's and your adrenaline is racing trying to keep your glucose levels up?

I also spent some time reading books from medical libraries so I could understand the glucononeogenisis, glycolysis, and krebs cycles. I couldn't teach someone, but I can now understand most of what I read, especially if I have a diagram next to me.

Please continue to post your experience. We are meeting with a specialist on March 22 and I want to have as much information as possible. I will also post any new information I find out.

Blessings,

Angela

[deb]

Hi again,
This is a bit of an update- and a thank you - without this board I would not know what to feed my daughter--and what not to! I am still learning, and we are still without a clue as to what her "diagnosis" is -- all we know is that the less fructose the better!
The candy thread was great-I went out to our local candy store and found giant pixie sticks, regular pixie sticks, runts, and large rockets-- previously both kids had only ever had regular rockets -- so this candy bounty just blew their mind!
On the medical front, she is going to have a lot of bloodwork done next week to re-check everything they tested for last time - they want to re-test her fasting insulin as apparently it was high once and normal once, and a variety of other things. But we are not on the same page with the metabolic specialist in terms of what we are seeing at home and what she is telling us re hypoglycaemia. After our daughter has anything with sugar in it, within 10 minutes or so she complains of stomach pains and her behaviour instantly changes-- first she is very irritable and then becomes very lethargic and irrational - when we give her dextrose she returns to her normal pleasant self. But the dr did not think that this sounded like hypoglycaemia, stating that she would expect us to see only lethargy and weakness followed by seizures if it her sugar is very low. We were surprised at her reaction, as this seems counter to everything I've read, learned, and experienced about hypoglycaemia....Sigh - they are going to give us a home glucose monitor to try and capture what we are seeing with some actual "evidence"....
Anyhow- thanks again to all of you who post - you are a lifeline!

[charlie]

Hi Deb,

sounds like they are getting on with things then. I have a theory about the testing for hypoglycemia. Megs went through the fasting bloods tests where they starved her overnight and then from 9 am took blood every hour for 5 hours to see how the body was reacting. Her blood sugar went low but everything that should have happened happened so it was deemed a negative for problems. BUT I had had her off fructose as much as possible for several years before that so I do wonder if it was a true negative. I do wonder if they need to be reactive before tests are done to get a true picture of what THEIR bodies are up to. And maybe load them with oral fructose and then do the bloods. But only if you feel their bodies are up to it. Having survived two breath tests I feel confident that as long as I manage Meg carefully for the next few weeks after the test Meg would cope ok with this.

Good luck with the monitor, definately they are the best way of proving hypoglycemia at the time, the problem is getting them to co-operate. I bought one several years ago for Meg but made the mistake of thinking she would co-operate, oh boy no. You need to build it up. Lucky had a good trick with her son that he pricked her first then himself, she will be able to give you more advice on it. I gave up with Megs as it was becoming too traumatic to try. She may be better now she is older, apparently they do more child friendly ones and different colours and maybe get the playnurse to work with her over it. Certainly it would give you and others a better answer on paper but to be honest I can tell exactly when meg is hypo just by looking at her and the way her behaviour changes.

We are off to the Metabolics in just over a week so I am going armed with alot of info this time and be a nuisance. And take someone with me so Meg can leave the room while I jump up and down. As far as she is concerned she just can't eat some things and if she does she feels sick. I don't want her, at her age, worrying about the rest and she is at the age where she is starting to pick more up.

[charlie]

The one I got is for the blood glucose, I seem to remember you warning about that in times gone by Fred. Trouble is couldn't even get near her with the needle thing, eventually I managed to do it once when she was asleep......... but 3 am isn't an accurate day reading really.........

I'd not heard of the ear lobe maybe I could tell its how you get your ears pierced...... she's just coming up to that age....... oh, the tricks we pull. And boy can ears bleed, a dog was brought into the practice with the tiniest nick on the ear from another dog biting it and it looked like there had been a massacre.......

I have found a monitor you can wear at night, its like a watch and it supposedly picks up hypoglycemic episodes by skin temperature and pulse, but they are about £80 and can't quite afford that just at the moment. Whether it would fit a child I don't know, may email them again for more info. That would be much easier..... but may not work in the day

[deb]

Thank you for your comments- and I apologize for my long delay in replying- Charlie -that's great news re the gene testing - it must be very rewarding to be moving forward with that!

We have finally gotten bloodwork back now - almost all of it, in fact - and the only thing that has come back abnormal is a low cortisol level, which can sometimes be a sign of an adrenal problem (which can cause hypoglycemia) but can also be a secondary effect on the body of chronic episodes of hypoglycemia. Given that her other adrenal results look normal so far, the latter is much more likely.
Something that is puzzling to the metabolic team, and the reason that they have now referred us on to endocrinology, is that our daughter's liver enzymes are perfect. And she is growing well, looks healthy, etc. We have explained how all of her energy disappears and how unwell she is/looks while there is fructose in her diet, but we keep hearing the same thing: she couldn't possibly have HFI or FBPase if she has been eating even a little fructose and her liver enzymes are normal. So for anyone out there who wouldn't mind sharing, did everyone on this board have elevated liver enzymes, enlarged livers etc. before being diagnosed?
We don't really know what to do next- except for monitor her blood sugar so that we can document what we think are hypoglycemic episodes. We were getting nowhere fast with that until we decided to "cheat" on the diet this weekend and let her have a cupcake at a birthday party. Well, she was miserably behaved all day, and this morning I am sure she was very, very low but I couldn't test her as my hubby, who was unavailable, is a necessary part of that equation - she is still not very cooperative with the testing, that's for sure...

Anyhow, she seemed low this afternoon again and we did manage to test her and sure enough she was low. Now we are wondering how to move forward-- I really don't like the idea of feeding her sugar just so that I/she can be miserable and I can keep testing her -- especially when we are receiving such skepticism from the dr - in her opinion it is malabsorption and nothing else - she's sending us on to endocrinology just to shut us up, I think!
Anyhow, if anyone can share re the liver enzymes, that would be great ;-) Thanks, Deb

[Tammy]

Regina's first sign was an enlarged liver. Her liver enzymes levels are what they always check. It took years on the diet before they became normal again. Each year we went, it was better, but it was a good 10 years before they said they read normal. But then her liver was extremely damaged.

[deb]

Hi Tammy
Thanks for sharing that -- ten years to normalize- wow, that's a long road to recovery....does she still get them checked every so often now that she is older?