Probably not HFI....

[sonia]

We went to see the metabolic consultant today about James and were surprised to be joined by Professor Tim Cox who has written a number of papers on HFI. Between them , they felt that it is very unlikely that James has HFI but that he probably has Fructose Malabsorption (DFI). Their arguments were 1) the genetic tests were normal, 2) HFI children they see are much sicker than James (ie there was no evidence at all of liver damage and he is and was thriving beautifully) , and 3) it exhibited at such an early age (they reckon HFI children are usually considerably older.)
Now to my mind I would argue that there was no liver damage nor failure to thrive BECAUSE I picked it up so early on and so he wasn't exposed to sugars for very long. hmmm, not sure about that..
I am very pleased that the Prof was there because he is one of the few experts in HFI and I know we were very lucky to see him and should respect his advice. If he hadn't been there I would feel that we hadn't been taken seriously and would be very worried about the decisions made.
So the next step appears to be to work on the assumption that its DFI and gradually, under instruction from the metabolic dietitian, begin reintroduction of some foods after James turns one. (apparently wholegrain cereals then maybe tart fruits like raspberries and gooseberries). The Drs will give me an open letter telling me what to do if he has a bad reaction and telling the A&E department what to do and what tests to carry out if we have to go there. In addition we are to be seen at the metabolic clinic after four months to check that James growth and development remain normal (I suppose this is a safety net in case it was HFI after all and there was some subtle damage going on). I haven't quite worked out how I feel about this at the moment. I feel that the goal posts have moved considerably and that it is now a big scary world of an expanded diet which may or may not be safe.
I suppose I should be reassured that James condition and welfare has been taken seriously and that if it does turn out to be DFI we should be able to find a threshold that he can tolerate and if it is HFI we are never going to know unless he starts being exposed to sugars again......
Any thoughts anyone? As ever, it's a Godsend being to chat this through with you.
Sonia xxx
PS Janine, where are you???

[kristen]

Hi Sonia,

I'm glad the Drs are leaning more toward the less severe FI type here. I assume they have reason to rule out FDPase and the other FI's as well (which don't show liver disfunction)...but

As I mentioned in the other thread it's easy to attribute a lot of the symptoms to common infant type behaviors, so I just want to caution you here...

I really hope that they are right, I've even read stuff about how stuff like this can happen, just like lactose intolerance in infants and then they grow out of it...so there is lots of reason for hope & crossed fingers & all, but at the same time, since we are talking about a little one here, I would really move forward with lots of caution (which I'm sure you intend to do), but here are my thoughts for when you do:

1. keep a good food journal. Be sure to include things like amounts & James's attitude - no brianer right...but also include things like sleep patterns, moods after consumption, and obviously any GI issues.

2. Get the ketone strips at the drug store (if you haven't already) and routinely test a little while after a meal (particularly one with fructose).

3. Keep an eye on things like skin temp, color, clamminess, monitor his pupils and be aware of smells. One thing I often noticed first thing in the morning was an intense maple smell wafting from Coley's room... ketones and acidocis are very distinctive...just jot them down in your journal if/when they occur.

If you keep a good record like this, god forbid it turns out that your trials fail, you will have the information that the Drs need to make a judgement without them needing to put the poor thing through more trialing for 'data.'

Good luck! I will be crossing everything that you are successful in adding some nice things to James's diet without complications!

Meantime, have you seen this site: www.nutritiondata.com
It should help you to decide which items to trial.

Keep us posted!

KJ

[Benjamins momk]

Hi Sonia. I just wanted to let you know that we are in the same boat here with Ben. The HFI test came back negative. The metabolic doctor we saw before the results came back insisted it would be negative because Ben's reactions are delayed. He insists those with HFI have reactions within 30 minutes. He said Ben doesn't have FDPase because those kids can eat fructose, they just run into problems when they have it in their system when they are sick with a fever or something. I know for certain that when Ben has a fever of 100, you'd think he had 106 ...he is limp and is hard to wake up. His previous pediatricians always said 'his mouth is wet or he has tears so he's not dehydrated' We switched pediatricians a while ago, but I rarely take Ben in when he's sick --b/c what are they going to do? I hydrate him with pedialyte and he eventually perks up when the fever breaks. Recently he had a fever and I called the office for something else, but explained his lethargy/fever and they made me bring him in....when I took him in they were like, 'he's passed out, flung over your shoulder and you weren't going to bring him in?? Your kid is SICK' I'm used to it....that is what happens when he gets a fever, but I never thought of possible hypoglycemia until after that last fever, so, now I am hoping he gets another fever so I can tests his blood glucose levels. Am I supposed to give him a little fructose then to exaggerate his symptoms and try to prove something? I mean, in the way past he had it with kids tylenol, etc.... who knows. Part of me just tells me that I know what works and to just give up finding answers because I seem to be the only one that cares!

What our metabolic insists that Ben has is a very severe case of fructose malabsorption (DFI) He says research in this area is limited and while usually symptoms are diarrhea --which Ben doesn't get ....perhaps in a severe case it would be the vomitting that Ben gets. He insisted that the hypoglycemia 2 days later is because his tummy hurt for 2 days and he wasn't eating. I know for a fact that the 2 days after he vomitted from school giving him 1/4 cup of Kelloggs rice krispies...his diet was full of protein and carbs ---I made sure of that. Then 2 days later he didnt' wake up...he was limp at 9 am, totally unresponsive, yet breathing. The metabolic doctor said when these fructose overdoses occur, I probably think he is eating, but he really isn't eating as much as he usually does and that causes dehydration----leading to ketones in his urine, and hypoglycemia. I guess I will keep a good journal of THAT!!

Reactions are rare now because I know what to avoid. I learned the hard way last March that grapefruit crystal light has more fructose than lemonade and that caused vomitting and a severe hypoglycemic reaction the next morning actually. So, I watch 'natural flavors' on the ingredients. Then in August I learned that the flour and sugar-less bread, made with pure grains....well, that causes Ben to become hypoglycemic too, so now I watch 'grains' etc etc. I feel like there isn't much left for me to watch so reactions will be rare.....and well, then I can't 'prove' that the hypoglycemia IS related to the fructose, not that he just isn't eating for a couple days.

Our metabolic doc said there is no need for him to see Ben again, unless problems arise that I want him to be aware of. He was supposed to send me a Rx for blood work to be done AGAIN when Ben has a reaction, but that hasn't come yet. Ben has major behavior changes with too much dextrose, and after any fructose overdose, or just with little pieces of asparagus and brocolli ..... and no one seems to take note of that, except state they don't know why that happens. Ben had one sip of his brothers chocolate milk a month or so ago....his teacher noticed a huge change in behavior and said Ben almost had to be taken out of the room 3 times, and that she had never had issues with his behavior before.

Like you, Sonia....I eliminated fructose from Ben's diet early. I trialed babyfood when he was between 4 and 9 months. He had an aversion to texture so I never got more than 2 or 3 babyspoon fulls of food into him, ever....that was enough to make nights awful for a week-- I think his tummy hurt for 3-4 nights then it took a good 3 nights to get him back on schedule, but I never saw bigger reactions ---maybe it just wasnt' enough food. He didn't really have solids until he was 2 and 1/2! So, it has been in the past year that I've noticed the hypoglycemia and ketones.

I don't know what to do next, except follow the HFI diet that seems to work great for him. He eats his spinich and mushrooms and as he is the smallest kid in his entire school, despite his brother being near the top of the chart for his age.....Ben is on the charts and no doctor is concerned about him.

So, thanks for listening...sorry to vent a novel. I completely understand your frustrations and fears. And I'm here to listen if you need to vent! I think we are fighting the same battle and dealing with the same frustrations....so at least we aren't alone!!

take care,
carrie

[kristen]

Hi girls - I just wanted to send my sympathies, I'm here in the same boat with you.

I just wanted to remind you also that because FI (all forms) is rare there isn't much info or understanding of it. Just to highlight that I want to point out some of the things I've been told & how it is very different from what you have been told...

One Dr has told me that all forms (except maybe DFI) fall under the category of Hereditary Fructose Intolerance because they are all genetic and they are all FI. Mostly that's a case of symantics until you'd like to discuss the differences in the enzyme deficiencies and how they present...so you can see how in this person's mind things could get muddy....

Another Dr told me that ketones are a normal thing that occurs to all of us at varying times and that they are not a good measure of an 'issue.' Whereas another Dr told me that ketones occur only when energy supply has been exhausted, which you could imagine would happen at all sorts of times that would be considered 'normal'...like after heavy activity or first thing in the am or during a sickness, etc. However it shouldn't occur within a couple hours of eating a decent meal...so that would be a key peice of information for either of these Drs...

I was also told by our ped that low BS isn't cause for alarm either. I think some of you have also been told this. But I thnk the thing that is missing from the picture here is that it SHOULDN"T be cause for alarm but in our kids it is. LBS, ketones, fasting, fructose ingestion, all that leads to something that has a profound impact on our kids...

Absolutely LBS shouldb't be a big deal, ketones, and acidocis all of it is easily managed, we've all figured out how: eat! But the problem comes when you are dealing with a sick kid that doesn't want to, or a child that is in a state that can't eat for some reason, then we have metabolic 'flags' that accelerate to the next level...this seems to be the 'missing' link for these people. These 'not so worrisome' things ARE in fact worrisome to us!

I was also told that people with FDPase can tolerate fructose better than those with F1P (what we call HFI). But the bottom line is that unless there is a deficiency (i.e. a limit to the amount that can be tolerated) then there is no intolerance...so the idea that F1P can be compared to FDPase or that tolerance is somehow consistent within a category doesn't make sense. It all depends on the amount of enzyme (or the lack of it).

I've even read that we ALL have a limit, that too much fructose even for those of us that wouldn't classify as FI can eventually cause BIG problems...there have been a couple things posted here about the potential link from HFCS to ADD/ADHD...but that's a tangent (but an interesting one huh!)...it's clearly unique.

And now to complicate things moreso, I've read that with FDPase that fructose has to be eliminated 100% not simply restricted...so where's the reliable info??? And how the heck do 2 different Docs (or sources of information) have such extremely different information? Information that is almost at odds?

But I hear you Carrie - I'm tired of trying to prove to these people something about Coley...the more information I get from reading and from trialing, the better I get at keeping him balanced, and the less desire I have to push forward with a definative.

I keep thinking about Fred's mom...imagine how hard this was for her to figure out without any internet or ability to gather any information through a nutritionist or whatever...she figured it out and brought up a fine young man despite it all! We are in a better position than her...with the exception of the fact that life style changes (such as fast food, etc) have made it a bit more challenging...but in general we are better armed to deal with this.

We know what works, so what else is there to know? Of course a definative would be great, but even if we had it, we'd still be sitting here trying to figure out where our child's tolerance level is, and what foods can & can't be incorporated...really I think having a definative helps only in urgent/emergent situations...and if we end up (god forbid) with one of those, like Mono or something, then we will be presenting a child that is primed for all the data gathering these yahoos need to give us the definative, and finally have it for their own documentation & needs.... But in the end nothing changes for us...

Of course I'm terrified about immunizations (and other such things), but Coley certainly is stronger than he was before, and again, if we end up in a bad situation... I of course would like to avoid it, but the path to avoiding an immunization will be a liver biopsy, and what's actually worse, the consequences of that vaccine or the surgery.... One way or another we are going to hit the wall...if we do our best to keep our kids as healthy as possible in the meantime there really isn't much more a definative would enable us to do...

But, having said all that, if you guys don't have BS monitors, I'd get them, low BS and dehydration are both serious...of course we have all figured out by now how to 'fix' our kids (or stop the cycle)...but an IV drip is sometimes better in more severe situations. I can tell now without poking Coley what his numbers are roughly...but I can also tell him that if he doesn't eat/drink then we are going to the hospital before he gets bad enough...of course that wasn't the case until more recently... but at a certain point we will all need intervention, and knowing that breakpoint will be another helpful thing as you move forward.

Personally I'm coming to the conclusion that Coley can't have any fructose - period. Since restricting his fats his reactions aren't as 'metabolic' when he is exposed, but his neurology/behavior is impacted significantly and for longer periods than I originally noted. I am even getting comments from school. So even though I don't 'see' the big metabolic flags from a serving of oatmeal like I used to, it's still disrupting his 'well-being' so we really haven't gained any ground. But when he has lots of fats (particularly vegetable oils), well that is more noticable than ever...

I don't know, I'm mostly rambling here at this point...I just wanted you both to know that we (as well as a good number of others here) are dealing with the same things...Drs that don't have the information that we need tham to have, nor do they have information that 'lines-up' with what we deal with.

Take a gander at the DFI chats, and they too deal with mis-information and loads of varying degrees of tolerance...I think for all of us the specifics about reactions and tolerance is ALL individual, regardless of the exact type of FI....

And lastly, one comment that the geneticist told me & DH Monday:

"There are only 2 experts on your child! Your observations and experiences mean more than anything printed in any medical source."

She also went on to reinforce that if you feel like you are struggling for attention or respect from a Dr, do not hesitate to move on.

Just my thoughts at this point, hope it helps some!

KJ

[Chelsea]

Marci to answer your question.

When Gillianne has fructose she typically gets bloated and feels crappy. She doesn't vomit anymore because she never has a fructose load like that. Then on day 3 post consumption is when the ketones start and they last about 1-3 days. Oatmeal was longer lasting then the apple juice cup of her brothers and I think that had to do with the amount. Her ketone levels in this situation are typically +3/+4

If she hasn't had any fructose (our daily goal) then she rarely has ketones, except in the morning occasionally. We do full urine dips because of the renal tubular acidosis and usually the morning ketones come with the lower gravitity (dehydration) and lower pH. Those are the ketones that don't concern me and we flush them immediately.

The big one comes when she gets sick, cold, sinus' and especially GI bugs that have fasting or vomiting. This is also where we see that lactic acidosis. These happen regardless of fructose intake. Her ketones are typically +4 within 4 - 6 hours after she first vomits. This is when she is admitted to the hospital for the D10 Sodium Bicarb, 4 weeks total last winter. She cannot be discharged until she is consuming at least 50% of her normal dietary intake.

Gillianne's liver is only enlarged and has elevated liver panels during acute episodes of illness.

The one constant we have had is glycerol in her urine. Even fructose free her urine organic acids have not changed, however, the did stop increasing with the fructose free diet. Her first glyceroluria was at 1 year of age, 3 months later it had tripled, 6 months later and fructose free it was about the same. This is the smell I notice most often, especially in the morning.

We don't monitor blood sugars. We have had some lows during acute illness which would be expected with any child. But we also have the breastfeeding protection. It's common for Gillianne to breastfeed non-stop one "bad days" when maybe some fructose got in her diet. I believe this is her protective behavior because she knows it repairs it and makes her feel better.

The one thing I cannot find a pattern too is the red circles in the eyes. The sunken eyes and big red bags.

[kristen]

Marcy, Thanks for your note! Those things that you listed, the things that your friends & family notice are EXACTLY the flags that I see in Coley and will stop whatever to get whatever in him. This is why we have no data...but I know EXACTLY what happens if I ignore that...the hard part (and I'm sure you could attest to this as an adult) the deeper into that state he goes without eating the less likely he is to consider it. So I have to head it off while his mind is still open enough to having a cracker, or a cup of chocolate milk or whatever. It's hard presenting this info to a Dr and having them say something like "well how do you know" or feeling forced to let him go... I won't do that again, NO WAY, only in the hospital!

As for restricting, no - Coley is not 100%. It's not a switch. Certainly we are miles away from where we were. Time & healing has helped a lot. But I was amazed at how much restricting fats has helped too. We are still not exactly where we should be. I think partially because of unknowns (like spurts and high energy use days and little bugs, etc) but also he is still working on making up lost ground. It's been just about a year now (WOOHOO!) and since then he has been making progress. That alone is a HUGE thing because before restriction he was spiraling downward. But every day that goes by he gets stronger & stronger (mentally and phisically). I think it's this fact that makes me confident to offer trials, but then it's SO clear that it only hurts him...and it seems to take longer & longer to get his personality, his mood, his attitude, his disposition back to where it belongs. Doesn't seem like a 'big' deal, but like you pointed out...when you feel like crap....

Chelsea, those eyes scare the crap out of me...he looks so lost. Generally that look comes with depression for us too. It nearly disappeared upon restricting, but we still see it now and again. Honestly, I'm leaning more toward it being evidence of a seizure...I may be way off...but his behavior during and after the color changes is more consistent with the times that we are assuming was an event in the past. As I mentioned in Lisa's post, we dont' know when they happen or what the exact trigger is, but the aftermath even the neuro agreed seemed to indicate an event. This is when he has trouble speaking, he's pretty depressed and unmotivated, his 'processing' is off and will have little appetite for days. Do you see anything like that?

Oh, there is also a type of brainwave firing that occurs in a good way. We have seen this all along with Coley (before & after restriction). It seems to disrupt him much like a 'bad' one. We will see smilar symptoms, but then after he comes out of it, he has picked up a brand new skill...not just an interest but has mastered it. I know it sounds hokey...but it's a new connection (there's a name for it, it happens with people that have seizure & stroke damage). Anyway, we also see this happen after Coley has been exposed to fructose sometimes, but more recently when we see it, it seems more like it's 'repairing'. He'll just sort of grump up for a while, maybe sleep more, then BLAM - he's doing something he's never doing before and he's back to himself. Thing that's conmfusing is that he does seem to get tired...and it's hard to know what's influencing what...because more sleep means less intake, more sickness means more need for rest...and seizure activity can wear a person out too.... I dunno!

[sonia]

Thanks everyone, your ideas and support have been awesome! I'm still re-Reading these posts they are so helpful.
Kristen excellent idea about the glucose monitor. I am now looking into it. Does anyone have a recommendation on the gentlest one to use on an infant?
Also ... at the risk of being stupid... can you use ketone strips on a baby in nappies? How?
We have been told to wait until January to start any challenging so I've got a couple of months to arm myself with all the advice and information i can get. Lisa, I'll be picking your brains in the future if that's ok!
Thanks again.
Sonia x

[kristen]

We have the one touch - but sorry to say, even that isn't all that 'gentle.' I know it stinks, but it's necessary to make sure everything is being tolerated well. You can get an Rx from the Dr so that you don't have to pay the big bucks they cost. Unfortunately they also measure glucose only, not total sugar, so you will not see if fructose is present, you will only see the crash (providing one occurs). But the thing to keep in mind is that if you take note of all of the other symptoms (skin tone, clamminess, temp, eyes, attitude/mood, alertness, etc) you will quickly learn how to gage BS without a poke.

For a baby you will need to use a urine bag to collect a specimen for testing. You could try to use a potty, but that might be a bit more challening.

January sounds good - firstly it gives you some time to prepare, but also it assures that you will have a good holiday season. You don't need any sort of potential crisis!!!!

KJ

[Benjamins mom]

Hi Sonia. A pharmacist recommended we get freestyle flash glucometer, it requires the smallest blood sample, therefore a smaller needle prick and less pain. However, the endocronologist that gave me a glucometer only had 'Freestyle' I was nervous, but it seems okay. You can test on the hand, by the fatty part near the thumb. It is less painful there. I think Freestyle flash can be tested on the arm also which is supposed to be a lot less painful. I think non-finger test sites are said to be accurate and it is only recommended to test the finger if HIGH blood glucose is suspected. I may be wrong...but Ben's hand prick has always read close to what the lab draws, so I'd say it's accurate. Also, you can set the needle to strike at different depths....Ben is almost age 4 and is on setting 2 for his hand, I need it on 3 for my finger, but my finger is sensitive for a few hours --there aren't long lasting effects on the hand because you aren't using that part as much as the fingers . I'd imagine a smaller child could be on setting 1. The first time I tested Ben I had borrowed a glucometer from someone and it must have been on 4. I tested his finger, it bled so much and hurt him a lot, I felt bad. Now when he fights me I ask him if he wants me to prick his hand or finger...and he gives me his hand. Sometimes I let him press the button and he likes making the prick stop bleeding himself. Those little things help.

Look into a doc giving you a glucometer or a Rx for one....it could save you $100!

:-)carrie

[kristen]

Definately get the Rx - cuz the strips are another $100 and then there are the lancets at $10, which both need to be replenished depending on how often you use them.

Most places/brands these days will give you the meter free when you get your first supply of strips & lancets...but call a couple pharmacies first...also the pharmacist can recommend which is better for a little one.

Last year ours told us OneTouch (for a 2.5yo), but they are constanly being upgraded & improved, so I'm sure there are better ones today.

Good Luck,
KJ

[Benjamins mom]

For some reason, we have a stack of medical bills that the insurance just can't seem process correctly, but our lancets and test strips go thru as no charge. I walk out with my bag without paying a cent, and I've gotten a couple refills. I don't know if the endocronologist just put some good hypoglycemia diagnosis thru for us or what. I was so ready to just buy the glucometer on my own, but I guess I am glad that I waited for the endo appt. If they'd only process our growing stack of bills now.... carrie

[kristen]

Yes, the endo likely wrote you an Rx, so it is covered like that. But what I found out when I called the pharmacies before getting the Rx is that many of them (the manufacturers) will give away the meter for free with your Rx. So I wouldn't be surprised to find out that's exactly what happened with yours.

The Dr also asked me to contact the insurance company before she wrote the Rx to make sure that the one she writes the Rx for will be covered...when I did they sent me over to their contracted medical supply company that was willing to send out a free one. Technically I could have gotten 2 for free.

I think it has something to do with making sure that the growing number of diabetics have no excuses when it comes to monitorng thier BS - whatever the case, it works out for us! So definately take advantage of it!

Carrie - ask the Pharmacist next time how much those things cost (in the absence of coverage) our supply of strips & lancets would have been $110 for a month if it wasn't covered by an Rx! I bet yours about the same too - I couldn't believe the supplies cost the same as the meter! But I guess that's how big-pharma makes their money...you know like swiffers...LOL

KJ

[Chelsea]

sonia said:

Also ... at the risk of being stupid... can you use ketone strips on a baby in nappies? How?

You cannot use them in the nappies unless you are using cloth then it might yeild fairly good results. When we first started we left Gillianne naked and she would have an accident on the hardwoods and I would dip the stick there, lol. I finally broke down and ordered urine bags from a medical supply store. Shortly thereafter Gillianne potty trained. I have a huge box of urine bags if you would like a bunch I am more than happy to send them your way. You can email me your address through my profile if you would like them.