HFI or FM?

[Edel]

Hi. Im so glad I've found this group! I've been reading through lots of posts. My daughter is 20mths old and has had a really hard time with foods. I'm sure it's fructose causing the issues and she has had positive reducing substances stool tests in the absence of lactose. Any time she eats a fructose containing food she will cramp and cry fpr hours and if she eats too much has that awful explosive acid stools. She would hold her face a lot as if she had a headache and fall over for no apparent reason. Full food refusal at times. She then drinks huge amounts of fluids which led me to start dipping her urine for glucose incase of diabetes. No glucose but always a trace of blood and white blood cells every day. The levels fall and rise in line with how affected her digestive system is, ie the more runny mucus nappies the worse the blood, wbc and sometimes protein are. No urinary infection. Kidney ultrasound shows np damage or defect. We are waiting on metabolic screening. Im keeping her as fructose free as possible and shes happier than ever but a stolen bit of ketchup last week had her crying for hours that night. Just wondering if FM could cause urinary problems also? And if anyone has any suggestions for me in ruling anyything in or out? I also have a 5mth old who got a uti and septacemia after having sugar in water to relieve constipation at 7 weeks old. Coincidence maybe? Also i tried him with a spoon of carrot 2 weeks ago and he vommited every bottle for 2 days after. He has also had a positive reducing sugars test after having some teething gel. He is on zantac for acid reflux and if he has too much he has runny mucus stool but too little and the reflux hurts him :-( Sorbitol etc definatley an issue for both of them. Thanks in advance.

[edel]

Me again, just checking to see my registration worked!! :-)

[colormist]

Aside from talking to doctors about this concern, have you tried an elimination diet? An elimination diet coupled with a food diary will help you track down what is causing the reaction.

Some of your description makes me think FM and other parts make me think HFI. I have recently went through surgery and had my urine and blood samples taken many times. I was able to get a good idea of a baseline-healthy and a HFI fructose-unhealthy. For the unhealthy lab results, I did have blood in my urine. I thought this was of some concern, but nobody really talked to me about it or expressed any concern. I'm not sure the blood-in-urine thing would happen if it was FM. Does her urine smell sicky sweet or look dark during an episode? The craving water bit is also characteristic of HFI.

If you suspect HFI, you can get a genetic screening to rule it out. I would definitely recommend asking your doctors if you suspect HFI.

I've written this before, but Fred had extensive tests done when he was younger. His doctors determined that 100mg of fructose/sucrose/etc was the maximum amount of sugar his body could tolerate in a day before it caused problems. I'm just guesstimating, but I think Fred is around 200lbs. I would expect this ratio would scale in regards to weight. Also, since it's damned near impossible to tell how much sugar is in the food we eat, it's best to avoid all food that we think might be unsafe.

The only other thing I could think that you can do would be to monitor her blood glucose levels. A sudden drop (hypoglycemia), after eating something with sugar and lasting for a few days, is pretty typical for those of us with HFI.

Also hoping Charlie pokes her head in. She might have some more ideas for what is ailing your daughter.

[edel]

Thank you for your reply :-) We have stripped her diet right back and she is the happiest I have ever seen her. It took me a long time to figure out the fructose connection!! I would never really have looked much past FM if is wasnt for the unquenchable thirst which led me to finding the blood etc in urine. That's a really gopd idea about checking blopd sugar levels. I'm going to look in to that now. Thank you. We are waiting on appt with gastro paed that deals with metabolic issues but her waiting list is huge. We won't get seen until july/august time. Thanks again for your reply :-)

[colormist]

If you can, see if you can meet with your primary care physician about getting a referral to a geneticist. It's a lot of paperwork, but they will be able to do a genetic screening for HFI. If she comes back positive, they might want to test you (and the father) as well. You might be able to get in to a see a geneticist a bit sooner than August.

[edel]

Thank you. I will certainly ask about that. We live in the west of Ireland and much as I love it here, our healthcare system is not as good as in other countries and it can be a real battle to get anything done! I just hope I can get to the bottom of it soon for her. She ate half a tomato at lunchtime (she had it nearly eaten before i noticed!) and cried all evening. Her urine was then measuring high in both red and white blood cells but it had only a small trace of rbc this morning. I just know it's food driven but wish someone could tell me for definate what it is. Paed has suggested that gastro may do a liver biopsy. Maybe that will give us some answers x

[charlie]

Hi Edel, sorry for some reason completely missed your post. Are you the person that emailed me?

OK, where to start. Well you have answered one question, you are in South Ireland. Just helps to know re foods and hospitals etc.

As for what is going on? What tests have been done so far? It is going to be one step at a time I am afraid, eliminate one thing, then see what you are left with.

From what you are describing I am not sure it is HFI, but sounds very like my daughter history with the explosive mucosy acidic stools, if we didn't change her quickly it would burn her. When she reacts she drinks alot to clear the toxins from the system.

I thought it was fructose and eliminated that but it didn't clear everything up so I looked for more answers.

Have they tested her bloods for liver enzymes? that may give an indication of potential HFI.
She is too young to do the hydrogen breath test for FM but they could (as has been suggested) do the HFI gene test.
However the nappies, the reducing sugars stool test, the drinking, the crying are leading me towards the same as my daughter which is Congenital Sucrase-Isomaltase Deficiency where the body doesn't produce the right enzymes or enough to break down sucrose and starch. Now it may be fructose is the problem but you will find by eliminating fructose you have also eliminated sucrose to a large extent and that is what confused our diagnosis for ages, it wasn't till I looked further into things, realised she had a high starch diet and eliminated that last year that we finally got our answers.

Again it is congenital so a gene test may show it up, however the problem is that it will only pick up a known mutation but is a safer starting point as the other diagnostic methods are breath test (too young) and small bowel biopsies. The latter are obviously a major thing to get done (we haven't yet) and not all hospitals do them but it gives a very definitive answer on the enzyme levels and gives a base point to start the diet. Have a look at a very good website www.csidcares.org and www.csidinfo.com (the latter was when we had our eureka moment but is less accurate on other things).

Sorbitol, in fact any artificial sweetener, is a big no for us too.

Low blood sugar is also a problem for my daughter as she can't metabolise the sugars needed from her diet without enzyme support. The good news is, if it is that there is an enzyme called Sucraid, or Invertase that I know some in South Ireland have access to that means they can have some sucrose, and there are starch enzymes available on the internet too down the line. There is also a very good facebook page for it with some from South Ireland called CSID Patients and Parents. Now I'm not saying that is what your daughter has, but your history rings alot of bells. We only diagnosed by total elimination so happy to help guide you through that too. It is tedious and has to be meticulous, but worth it to get a healthy child.

Good luck, keep up posted.
Charlie

[edel]

Thanks very much Charlie for such a detailed reply. No, it wasn't me who emailed you. Im going to have a look at those websites now and see if that is where my answer lies :-) We have had very little done so far. She had an endoscopy done at 14mths as she had quite severe silent reflux as a baby and we all thought that it must have been that causung the issues with eating. She would want to eat but scream as soon as she tried. We would both just sit and cry through meal times :-( The scope showed np structural problem and the biopsy they did while in there also showed nothing, ie not coeliac. I had not made tge sugar connection at the time and her first positive reducing substances test was thought at the time to be lactose but she has since tested positive un the absence of lactose. Im going to look at those websites now, im sure i will be back with even more questions!! Also, had your daughter ever any problems with thrush?? I am beginning to think the urinary bood might be down to something like that??

[edel]

Hi Charlie, I have been looking at those websites you suggested to me and they make a lot of sense as regards my little girl.
I have a few queries that you may have the answer to if you don't mind?

Am I right in thinking that reaction is based on amount consumed? Amelia won't always have runny nappies but certain things will set her off for weeks. We also had a huge battle with constipation when she was small?

Is it possible that she appears ok with white bread but not with brown bread or weetabix or pasta?

Grapes dont seem to hqve a huge affect on her nappies but she could drink 5 pints of water after eating them. Raisins were a nightmare though and Aromat made her sick for days. Coconut milk was a disaster. Rice milk and anything with brown rice in it caused her food to pass through her system totally undigested.

Is it possible that children in the same family could have lesser or more severe reactions than their siblings?

Glucose is not an issue for someone with CSID from what i understand???

Lastly, have you any idea if skin reactions can be part of CSID? Red cheeks and ears in Amelia after eating an offending food and raised red rash across cheeks in the smallest! which disappeared when he had a few days sick and took nothing but water orally.

Sorry for all the questions but the information out there is limited and there's nothiing like personal experience in these things.

Many thanks again,
Edel

[charlie]

OK, I will try to answer as best I can.

Yes, reactions with CSID will vary depending on amount, with CSID it can be combination of sucrose and starch, sucrose tends to cause immediate reaction, starch tends to be a few hours to days down the line. Sucrose usually sets off the diarhea and vomiting, starch just gas and bloating.

With bread: often brown bread has sugar added, weetabix has sugar added, Also brown bread is higher in fructose than white. If a starch problem tho all should set her off. HFI sufferers are better with white bread as lower fructose. FM often can't have wheat due to fructans being a problem.

Grapes are not ok with HFI, are Ok with FM as equal fructose : glucose ratio, supposed to be ok with CSID. Raisins are not with all conditions. Grapes not OK for Megs tho as sorbitol is also a problem for her and they are high in sorbitol.

Yes, some kids with CSID produce more enzymes than others or can be carriers showing mild symptoms.

Glucose should be fine for CSID, in fact most use it as their main sweetener.

skin reactions are common in CSID, can also be in FM due to high bacterial overgrowth as a secondary problem. I know as soon as Meg reacting, she gets a rash above her upper lip and on her cheeks.

Alot with CSID can cope with coconut milk, not with HFI, not with FM. Meg can't.

Hope this helps. happy to help

Charlie

[edel]

That is so helpful, thank you very very much :-)