Suspect HFI - help?

[lucky]

Nicoleh,

Whoa!!!
Worms, eh?!! That must have been a special surprise...

I understand that you are still breastfeeding your daughter. For all the reasons it is beneficial, it may be realistically protecting her from dehydration/electrolyte imbalance from loose stool. Your immunity and nutrients undoubtedly are continually self correcting any inconsistencies in your daughter's system.

Our son also nursed often with similar symptoms connected to it. Whether it was blood sugar related, thirst (from losing hydration from increased urination), feeling ill, or otherwise, perhaps keep in mind that after weaning you may see some issues if things aren't fully stabilized.

But... interestingly -worms you say- could that be creating the confusing havoc in your daughter's system? From what I understand, they can cause a lot of gastro distress and malabsorption of nutrients. I'm hoping your specialists will soon be able to clear this up for your daughter and alleviate all her discomfort.

You are a strong mommy. Hang in there...
Best,
Lucky

[nicoleh]

HI Lucky,
I have no idea about the worms. yes, they will be causing gastro distress, and could be the reason why the diarrhea hasn't cleared. however I don't think they are causing the fructose issue as this is very long term (6 months) plus my other dd's have worms too last few weeks and their stools are fine (and they actually seem to have a heavier worm burden than dd - obvious itching etc.

I really wish I could clear them all out with a strong drug and see what we were left with. sadly a strong drug would not go down well with dd - in fact no drug would.

I think I'll breastfeed until she self-weans - maybe 5 years old - could feel a bit weird, but you're so right, absolutely worth continuing esp with hfi. I fed dd2 until 28 months, dd1 until 17 mo.

If only I had specialists, lol. So far the earliest I can get in to see someone is June 12th! (and I can't really afford that appointment either.) We're trying for an urgent apt in the public system which would be within 30 days - if we qualify. otherwise I guess I keep bugging the private metabolic doc and hope he bumps us up.

Thanks,
Nicole

[nicoleh]

HI Lucky,
I have no idea about the worms. yes, they will be causing gastro distress, and could be the reason why the diarrhea hasn't cleared. however I don't think they are causing the fructose issue as this is very long term (6 months) plus my other dd's have worms too last few weeks and their stools are fine (and they actually seem to have a heavier worm burden than dd - obvious itching etc.

I really wish I could clear them all out with a strong drug and see what we were left with. sadly a strong drug would not go down well with dd - in fact no drug would.

I think I'll breastfeed until she self-weans - maybe 5 years old - could feel a bit weird, but you're so right, absolutely worth continuing esp with hfi. I fed dd2 until 28 months, dd1 until 17 mo.

If only I had specialists, lol. So far the earliest I can get in to see someone is June 12th! (and I can't really afford that appointment either.) We're trying for an urgent apt in the public system which would be within 30 days - if we qualify. otherwise I guess I keep bugging the private metabolic doc and hope he bumps us up.

Thanks,
Nicole

[ukbill]

If I know anything about worms is form breeding dogs and cats..
Sorry Nicoleh to tell you that you will have them too!

Its spread through the breast milk..

Or so I've been told.. assuming the physiology of the worms is the same as pet worms.. (well they will have come from a pet sometime)

They can lie dormant in a body for decades.. but the hormonal change brought about from breast feeding will allow them to re-activate and in so doing both re-infect you and your baby.

It is important that you both get treated quickly.. some of these things are not happy staying only in the gut.

At least now you have an answer to one problem.

If you cannot get to a doctor go see a vet! they are after all more highly trained than Doctors.. (true actually you have to get higher grades to be allowed into veterinary collage than Medical school.. well in the UK anyway) and certainly have more knowledge of the types of worms you will have..

PS its worth getting all your children and pets ( you and your children come into regular contact with) treated at the same time..

[nicoleh]

Hi Bill,
no need to panic on the worms note. they're definitely only human pinworms (which can't infect dogs) and they definitely aren't spread through breastmilk. they have a short life cycle (6 weeks) and like the gut pretty much exclusively.

I've heard that we're likely to have them too but neither hubby or I have any signs - all kids are on homeopathics for them anyway (as am I).

I did an animal studies science degree actually including a lot of vet subjects. dog worms can go through breastmilk as some such as hookworm, whipworm like to burrow into tissues.

I do now have some alarming blood test results.

liver function tests normal (don't know what they were like on fructose, but I can guess). Elevated eosinophils (indicates allergy or parasites - duh!), elevated LDH (no idea what that is) and HIGHLY elevated creatinine, urea and moderately elevated uric acid. Is this 'normal' for a child with HFI? doctor is wondering if it could be caused by her all-meat diet but it's at least 50% breastmilk and the meat isn't lean, it's very fatty.

doctor is stumped. any thoughts on the types of results we see in hfi kids?
anyone?

[ukbill]

Best speak to Carissa jd's mum on the site here.. she has had lots of bloods done on little James and he was very poorly as well with fatty liver when tiny.. he is on the mend but still has a fatty liver at 3 years old now.. but as I say getting better all the time.

I will message her on facebook and let her know you need advice or to compare notes..

[nicoleh]

thanks. what's carissa's username?

[nicoleh]

YAY YAY YAY! I have been given an urgent appointment with DD for Monday with a paediatric metabolic specialist! he seems open-minded about the possibility of HFI but also wants to help us work out exactly what's going wrong with her kidneys if it isn't HFI. Oh, and taking another look at her blood results, her liver results are only just under the max normal level. Looks to me like they've just come down from something.....

[nicoleh]

I haven't updated since our specialist apt because there really wasn't much to add!

We were repeating blood tests for kidneys/liver which I get results from with my GP in a couple hours. Also mum's dna test might be back too. The specialist wanted to wait for both of these tests before doing anything else.

He doubts HFI as he says that people with HFI don't have any problems absorbing fructose (which seems to drastically contrast with many experiences on this board) so her problem must be in the GI tract and not be metabolic, since she has diarrhea. I don't think so! But anyway, if mum's dna comes back positive he is willing to test DD which is all that matters, so I didn't bother arguing.

He also claims that it's not possible for someone with HFI to have normal liver function tests, even though she'd only ever eaten v. small quantities of veg, no fruit or sugar, and had always "diarrhea-d" it all out. Plus she'd had 2 weeks fructose free before the blood test. I really don't think that it's impossible her liver had already recovered by then. But anyway, we'll see when I get results today!

[nicoleh]

well the bloods are in! good news!

Most values have normalised. urea still high - slightly up from last week, but probably not a real increase so much as sample variation. Creatinine has halved!!

On the liver topic, her only just normal-results from last week are now further down into the 'well and truly normal' range.

no dna yet. the results have gone wandering somewhere... darn

[charlie]

Either they are incredibly fast in Australia or the truth is the results aren't ready yet as usually it takes 6 to 8 weeks to get a result from the DNA test.

[nicoleh]

they are fast! actually, mum coincidentally got her blood drawn the day before they were due to run the test. They do a batch weekly and it takes about 10 days to get the result.

The system says that the result has been reported, but it didn't say what the result was!

Should be in today.

[nicoleh]

yep, well, that is weird. The result is still pending. Have no idea why it said reported yesterday. Anyway, they told us it could be available from yesterday. so hopefully not long.

On a positive note: A formed poo! woo hoo! I can't believe how excited I am about that. She hasn't had anything but chicken, egg and fish for 2 days. Plus she's had enzyme supplements for each (lactose containing) breast-feed. I do wonder if it's that, or the lack of red meat, or just coming off fructose has finally resolved? anyway, I'll know after I try red meat tomorrow. so excited! 37 days of diarrhoea might just be over now!

[nicoleh]

DARN. I accidentally used the wrong spatula on my dd's chicken and it had blueberry syrup on it. I forgot to tell hubby to remove the outside of the chicken before giving her the leftovers. She reacted. hypo (drinking excessively and peeing excessively - so I presume hypo) and today's stools were totally liquid again. REALLY annoyed at myself now. How long for diarrhoea to clear up after a tiny accident like that?

Oh, and someone must have made a mistake about the dna results - Charlie you were right - we find out in June. Sigh. Now I have to consider getting my DD tested rather than waiting for mum's results. I really don't need to be up in the air about HFI until August!

[nicoleh]

ok, after all that, the results came in today. they are fast! (but someone didn't think they were.) this is all very strange.

anyway, they only tested for the most common mutation and it came back negative. so essentially, we have no more information!

[Alisha]

Omgosh!! Same here. They tested my daughter for the most common mutation and it came back negative. Bummers!

[nicoleh]

We're going for a liver ultrasound today to see if she has enlarged liver. I've had to arrange this through a GP as the metabolic specialist has pretty much dismissed HFI and he's referred me on to a renal specialist. But the renal guys haven't contacted me and I don't even know their names!

I don't doubt it's HFI. She's got exactly the same renal lab results as someone with HFI and those results are normalising on a fructose free diet. 1 + 1 = HFI.

Alisha - do you know what your daughter's urea nitrogen (BUN), creatinine and electrolyte levels were like? If you could find out, that would be enormously helpful to me.

Are your doctors going to do the full genetic screen now then? mine isnt' all that interested until we've ruled out any possible renal condition but that will involve invasive procedures on my daughter which I can't justify when a test for HFI is non-invasive and I don't think she has a renal problem.

Might have to fly her to boston to see Dr Tolan!

[charlie]

I will post this here to both our new members who seem to be at exactly the same time in their diagnosis.

With respect

Both your children are obviously having a tough time and clear reactions to something and this is a very worrying time for you as well as mind blowingly exhausting. I know, I have been there in exactly the same situation as you some many years ago now.

When they are so little they are very reactive as their systems are so immature they tip over the balance very quickly and their liver has to cope with the fallout.

Suddenly you come across what you feel is the answer, HFI, they tick all the boxes, it suddenly makes sense and changing their diet helps and things improve, but the tests say other things. Unfortunately the gene test isn't absolutely a true negative as not all mutations have been detected so this does leave you wondering still. But you must still think outside of HFI and work with your doctors positively. There are so many different sugar related, metabolic related problems that all present in a very similar way. Now the diet changes for the HFI can go to help many of these as by eliminating fructose you also eliminate alot of the sugar groups thereby improving their symptoms anyway.

Now your story, apart from the liver issues is very very similar to our story. Things started as soon as she was weaned leaving me with a very ill child. Eventually someone mentioned HFI and I came across this site and suddenly the fog cleared. that was what she had, things improved on the diet (although not completely) and I realised I had found the answer so we stuck religeously to the diet. However it still was evident that something still wasn't right, she still felt sick, sleeping was still a problem, she would blank out and even pass out so I started to think again. Here in the UK little is known about these conditions and for ages they diagnosed fructose malabsorption but put her on the HFI diet, then I eventually managed to find where to have the DNA test in Britain and pushed for it to be done as they wanted to increase her diet. it came back negative and this was the first time I really started to doubt the diagnosis and look outside the box. We had already excluded epilepsy for the blanking out as you never know there may be two problems going on.

So now we are looking from a different angle, yes she definately has problems with sugars, but which one, thanks to the HFI diet she is relatively healthy (who knows she may have been iller and therefore reinvestigated earlier if I hadn't stuck to it but I didn't want to take that risk). Now she is 10 and her body is more mature so on chatting with her doctor we decided to put her back on a "normal" diet for a while then start again. She has now been on a "normal" ish diet, I am still cautious on sugar as I see the reactions and although very funny are potentially dangerous as it sends her as though she is drunk! But what it has shown me is she most definately does NOT have HFI as she isn't as ill as she should be as HFI does not improve with age, it will never change as the essential enzymes are missing in the liver. so what is it, we obviously need to know as it does have a big impact on her life. The next step they are taking is a clever device they insert into her tummy fat for 5 days and it reads the blood sugar continuously over that time and I challenge her system as much as I dare over that time and keep a diary then they can match up what the blood glucose is doing to what she does and eats............ fabulous idea and avoids alot of blood taking which she hates. We can then go on from there. BUT i am doing this with very clear medical guidance and at a time when she is strong enough to cope with the dietary challenges and hopefully we can then put her on the correct diet or treatment for her.

So the long and short of this long waffle....... sorry.......... is do carefully look outside the box and work closely with your medical advisors but you may find the limited diet short term to heal their systems is your temporary answer. But later the picture will change but in the meantime you won't have done any harm by restricting the diet. This all takes alot of time, years, ten in our case, just stick to your instincts but don't get too down about it, as things will improve and hey, so what if they can't tuck into a chocolate bar with everyone else, they are healthy, happy, fully functional individuals at the end of the day. So I will allow you a few days to feel sorry for the situation then start looking at it positively so the kids don't pick up on the negativity and start getting inventive............ I have become superchef at home as a result of this.

Take a look at this paper it is a good layout of diagnostic procedures, you may want to print it out and show it to your doctors (cautiously)
faculty.ksu.edu.sa/72327/Documents/Inborn%20error%20of%20metabolism%20fructose.pdf
Good luck

Charlie

[nicoleh]

hi Charlie,
thanks for your post.

I know what you're saying.

my problem is twofold: Firstly, the metabolic doctor has declared HFI to be too unlikely to warrant testing for, based, I believe, on not-quite-accurate information and not taking into account her whole condition. He believes her kidney issues are separate to the fructose issue and has referred me to a renal specialist. I was told that he can't help me anymore.

On the other hand, the renal guys haven't contacted me at all and I don't know who/where they are. So I no longer have a metabolic specialist, and I don't yet have a renal specialist. It's kinda hard to cooperate with the docs when you don't have one, lol!

The other thing is that I do not want DD to undergo invasive or dangerous diagnostic procedures at the tender age of 12 months for whichever renal conditions they think she might have because:
a: the hfi test (dna) is non-invasive
b: I think she might have that and I want to rule it out first and
c: her kidney issue is resolving on fructose-free diet, so there is no real urgency to get the kidneys diagnosed (at the moment, that might change).

Also, in contrast to Megs, DD has improved on every measure on fructose free. no issues remain with her either in outward symptoms or on her labs (well, everything is improving but more time is required to go to completely normal) WHEN I keep her totally off fructose.

My problem is moreso keeping her fructose free. it's darned near impossible, with 2 older (but little) sisters that drop crumbs and leave bits of food around no matter how much I supervise them - I can't be with all 3 of them 24/7. Plus DD eats a lot of paper. (how odd that sounds). IS there any chance that paper and cardboard are fructose free? I would fish fifty bits of paper out of her mouth every day! I really do my best, but short of keeping my other kids in a cage, I can't stop all of that either. So she has still had fructose reactions a couple times a week - thankfully she is getting stronger so she is reacting less to trace amounts.

I am certainly going to go ahead with anything non-invasive/dangerous that the doctors want to do. and we will do more invasive tests if HFI is fully ruled out and she continues to have any problems. but not until then - not unless the symptoms escalate to a more urgent level.

In terms of our dna test, I was at first thinking that I must be wrong about HFI, but I've since mulled it over a lot and honestly, not only was that test only checking for one mutation (and thus a false negative rate of 33% for the condition) but that was run on my mother, not even on DD, which adds a further layer of reason to persist with testing in other ways. Plus there's not much else that I can see it could be. Once I speak to the renal specialist (ever???) then I'll know what else might be on the table, and will look at those options too.

anyway to summarise (sorry for the long one too), yes, I see your point and I will definitely think outside the box. but I still do think it's HFI and until I actually have a doctor, I'm going to keep helping her any way I can (thus the liver ultrasound today - results still not back).

funny, that link you sent me is one I was already reading today. some smart person must have posted it on an old topic I was reading (wonder who that might have been?).

Interestingly, I couldn't put DD back on any sugars much - she positively refuses to eat any fruit and veg now. Another diagnostic clue?

Thanks,
Nicole

[ukbill]

Some of the fiber in the paper might be digestible well it is made form a plant so some should be.... and will convert to Sucrose in the gut..