18 month old son being tested for HFI

[RLPH]

My son is being referred to a geneticist to be tested for HFI as suspected by his pediatrician. However, I have my doubts. I have been browsing the forum to see if anyone elses story sounds similar, but it doesn't seem to match. My son was born fairly healthy. He was breastfeed for about 3 weeks but wasn't doing so well (very fussy, not growing as they waanted) and so I switched him over to regular Similac. He did fine with that but I did notice his poops were mucus-y at times. I would bring this up with thee pediatrician and they really didn't say much since he was growing fine and a little faster than the curve (he was right at 6lbs at birth and below 10th percentile and now at 18 months he is 50th percentile for everything). 
Anyhow, problems started when I started introducing foods. I would note after trying certain foods, within a day, he would have a bright red painful diaper rash and he would be super fussy for a few days. Turns out the foods that do this are all fruits and some vegetables. HOWEVER, he does seem to tolerate apple juice occassionally, though I have noticed he gets a bit fussy after drinking it. And while he can't tolerate raw fruits, for a while if I cooked them it was ok. Now, he can't do any fruits EXCEPT apple sauce pouches. He also cannot eat a lot of vegetables anymore --- including things like cucumbers, cooked carrots, corn, peas, and squashes. These were never a problem until the last few months. 

He is growing normally. But, he drinks a lot of whole milk to make up for sparse meals. He eats bread, potatoes, chicken, eggs, beans, rice, cheese, deli meats, apple sauce pouches, cereals, and basically anything else we are eating except the fruits and vegetables. I also give him a kids multivitamin everyday (crushed and in his milk) to make up for vitamins he is missing from lack of fruits and vegetables. 

We are pretty confused. His pediatrician has been pondering this a while trying to decide the best course of action. So, we are off to see a geneticist as a starting point but it doesn't quiet match HFI. 

[antonia]

Have you discussed with your ped the difference between DFI/dietary fructose intolerance, otherwise known as fructose malabsorption or fructmal or FM, and HFI/hereditary fructose intolerance? I think it's good you've been referred to a geneticist and that your pediatrician seems attentive and is erring on the side of caution. I wouldn't shy away from that at all, a lot of people have to fight for such a consult. But start thinking about and researching the difference between FM and HFI. HFI causes metabolic distress, namely hypoglycemia (and sometimes acidosis), where as fructose malabsorption is strictly a gut disorder. I think it's easy for either to be confused for the other, especially since metabolic stress often presents with gut or gut related symptoms, and when a child is so little it's near impossible for them to communicate what they feel as being metabolic in nature.

As for the apples, I'll let the HFIers speak to whether they think that rules out the possibility of HFI. My daughter is not diagnosed, but we do know that fructose causes her metabolic distress. Therefore we feel more at home among the HFI community and follow a HFI diet. But for a long time we assumed she had fructose malabsorption and followed a low fructose diet known as the low fodmap diet. We did not recognize her symptoms as being metabolic until she reached age 5.

Also consider FBPase Deficiency, thought of as a cousin to HFI. Under certain circumstances (such as illness) it acts just like HFI. But when healthy and all systems are in balance those with it are suppose to be able to handle more fructose than a HFIer would.

[rysmom14]

Hi Rlph,

Welcome to the board!

I agree with Antonia that a lot of people try very hard to be taken seriously since HFI is such a rare condition. I would go to the genetic appointment and hear them out. They may have another suggestion or thought and they could test for a group of conditions. My son was considered healthy at birth as well, and the only problem we noticed was the "acid- like" poops that caused terrible diaper rash from formula and he would throw up, a lot, and often. the poop and throwing up got worse when we started food. we noticed his belly was getting big, but was soft so that never really concerned anyone. other than that he didn't have anything else that would be alarming. most of the time the pediatricians don't see the poop or even throwing up as abnormal. the growing belly was what prompted an ultrasound and lead to his hospitalization at 4 months and then eventually the diagnosis many many months later.

When he started eating normal food he would actually eat fruit and veggies, but only the ones that have a lower sugar content ( which I learned after the fact) he would eat berries and green beans, but always spit out the high sugar food like apple sauce and carrots.

I hope you have a good appointment with the geneticist and they start you on a clearer path. The HFI path has been a struggle for most. My recommendation is to keep a food diary until you meet with the geneticist. I would include any reaction that could be linked back to the food. That can be helpful if you start to see a pattern of certain foods that always cause problems. This can be so helpful in ruling HFI in or out.

Let us know how thigs work out for you and I hope you son is feeling better!

[colormist]

I'm hoping that your doctor is just taking proper precaution to ruling out HFI before proceeding down the diagnosis ladder. It does sound more like fructose malabsorption (DFI) or maybe another metabolic condition, but to be safe it's best to rule out HFI as those other diets can cause serious medical concerns if the patient has HFI.

I definitely concur that a food diary will help you down the path diagnosis.

[ukbill]

OK a question.

"Apple Pouches"

Will she eat these in isolation (without any other foods before or after) or only with other "safe" foods?

There is a possibility that she is eating the Apple with other foods that are "balancing out" the drop in blood sugar the Fructose in the Apple will cause.

Although the "fussiness" could be the effect of the poisoning that still remains even if a Hypo is not experienced.

HFI is frequently treated by medical people as unimportant.. because the part of name Hereditary Fructose "Intolerance"

An intolerance is not going to be fatal whereas we know our condition can often become a fatal one if not controlled well in children.

Better when talking to Medical professionals to use the name Fructosemia or Fructosuria that name indicates to Doctors and Medical professionals that the condition can be fatal and to take appropriate actions.

Children who are hungry will eat more or less anything we all ate many things that were really not good as children and occasionally still do as adults.

Partly this can be to "fit in" with other people (peer pressure) or because if they eat something mummy will not cry.. or daddy get angry.

Even very young children can read their parents a lot better than we give them credit for and despite tantrums etc they usually try to make mum and dad happy.. if that means eating something that they are told will be good for them (even though it makes them feel ill) they will do.

I ate Battered Brussel Sprouts at every meal for some time because it made my mother happy.. even though I only liked the batter not the sprout. After once trying one and making the mistake by saying I liked it...

So parental pressure can be very strong and damaging.

My advice (for what its worth) is let your child eat whatever it likes that has no "reaction" in the nappy department or with behaviour.

So long as you feed lots of different meats and dairy (try to feed some offal as well, Liver is a fantastic source of nearly every vitamin and mineral a growing child needs) Home made Liver pate (lambs or Chicken) if you cannot stomach cooking the stuff yourself is a good idea.

High Fiber foods might cause problems as well as the digestible part of the fibre breaks down in the intestine to produce sucrose which can cause inflammation of the bowel in both HFI and FM people.

Hope this helps??

Keep smiling your child will grow to be a strong healthy adult

[rlph]

Thanks for all the advice. Very helpful. After sitting on this a few more weeks and really researching it and finding other groups/forums, I feel a bit better in what to expect as we proceed with this.

I will say that I never force my kids to eat anything they don't want. I have 3 kids. My oldest (5years) hated vegetables and I never forced it. He just recently started liking broccoli and spagetti squash. My middle (3 years) loves vegetables and always has. The problem my 18 month old wants to eat fruits and vegetables. He sees me giving them to the other two and he points and screams that he wants them. As of last week, he gets no more juices. I gave him some while we were out one day because the place we were at sold juice pouches with the lunches. That night I noticed he stopped and started crying while squatting. I assumed he pooped and it caused a rash. But he had only peed and his entire diaper area was bright red. And as of yesterday, no more apple sauce pouches. With that being the only fruit left, I was able to observe him very carefully after eating them and he is definitely more fussy. I really have no problem managing the diet otherwise. It was just getting to the point of knowing no fruits, no vegetables. Because for a while, I thought it was just bananas. Then I thought, oh, it's watermelon too. And then peaches, and oranges and on and eventually different vegetables that had worked before. So, the frustrating part was figuring out what was causing the problem and finding the problem was with a fruit/vegetable that had been ok before.

I am also thankful we have a good pediatrician that listens. He was the one that suggested it could be HFI. We have just been waiting because he was growing well and ahead of the curve. But, since it is progressively getting worse, he finally just recommended at the last checkup to proceed with the geneticists (no teeth pulling on my part). So, hoping for the best.

[rlph]

Just a followup from my previous post. I'm feeling a bit lost with my now 20 month old son. He was tested for hereditary fructose intolerance on May 8th and they said 3 weeks for the results. We can't move forward with anything else until we get those results back and they still haven't come back (it's been SIX weeks) and they can't tell me the delay. My problem is that things are getting worse for my son for foods that normally are ok. He used to be ok with applesauce pouches and even apple juice but in the last few months, that is no longer the case. So, we avoid all fruits and vegetables. And, now there are other foods that are causing problems that didn't previously cause issues. For example, Saturday he woke up with a rash around his mouth to where his skin was almost peeling under his lip and I have no idea what he ate that would have produced that. I called his pediatrician for further advice and was told to continue to wait until results come back. I requested we at least get a referral for a dietitian to help me navigate through and they could do that but insurance likely wouldn't pay for it until we have a diagnose. I'm not convinced results are coming back soon and I feel a bit annoyed. So, I'm going to try and strictly follow the HFI diet protocols and if anyone can help me out with links or terminology for the diet, that would be great and a big help. (I'm researching now but it's a bit overwhelming at the moment.)

[antonia]

Rash around the mouth is a pretty classic sign of an allergic reaction. I would seek a referral to an allergist for that.

If your pediatrician wanted your son tested for HFI, I'm assuming there was evidence that he may have been in metabolic distress. The difficult part is determining what symptoms are metabolic and what symptoms are not. You can certainly have more than one thing going on. My daughter has allergic reactions to peanuts and wheat and metabolic reactions to fructose. It took a very long time to sort this out. Allergies express themselves in many different ways, doctors are discovering, which doesn't make it any easier. My daughter's reactions to peanuts are more of the classic rashy type, but with the wheat she develops EOE symptoms, which can mirror metabolic or HFI symptoms, so this was very tricky to figure out. She also needed to reach an age where she could communicate her symptoms to us better too.

I wish I had more immediate answers for you. It's so very difficult when your child is not well and you don't know how to fix it. Please be patient with yourself. Start keeping a food diary, if you don't already, and track all the foods he eats as well as when his symptoms occur. Reactions can be delayed, they're not always immediate. If you keep a diary you may be able to see patterns that you wouldn't without it.

You could also put him on a strict elimination diet. You would have to start with the HFI diet and then eliminate any foods that may contain common allergens too. Start from there and see if he improves. Then start adding foods in slowly and systematically, one at a time, watching for reactions. Both allergens and fructose can sneak their way into foods, so if you give a list of foods he's currently eating, I'm sure the people on this board could help you out with what may not be HFI safe. You should be able to get some help from an allergist or join a different board to get help with avoiding common allergens.

[antonia]

Another thing I just thought of, have you ever heard of salicylic acid intolerance or sensitivity? This is one of the first diets I tried putting my daughter on before I even knew that fructose intolerance existed. Salicylic acid is found in most fruits and vegetables and my daughter actually did a little bit better after I started her on this diet, I think just because she ate so few fruits and veggies on it. Anyway, besides allergies, there are chemical sensitivities like this that you could look into. You will find information under salicylic allergy as well, but I'm pretty sure allergies are defined as an immune reaction to proteins, so technically this shouldn't be called an allergy. And there are other things besides fruits and veggies that could set this off, you could take a look at this diet and see if anything rings true to you.

[jenn123]

My child was diagnosised at nine, so there were years of her having symptoms. I always defaulted to plain meat or fish and white rice. Meat or fish cooked with just olive oil and a touch of salt. Maybe try that for weeks and see if he balances.
On another note, our test results took forever. We had blood draw in March and results in June. Very frustrating. Hang in there and hope you have answers soon.

[rlph]

Thanks for the responses. I actually just heard back today about the HFI test. The problem is my insurance company (Anthem) denying the approval for the test to be run. We are appealing and the pediatrician says they will handle the next steps. If the insurance company takes too long, I'll just pay for the test (I was told $475 paid over 3 months) and I'll keep pushing the appeal to hopefully one day get reimbursed. I met with the pediatrician this morning because my son woke up with a bleeding diaper rash last night, screaming and thrashing so much I was sure he was going to pass out (and he was grumpy for the last 24 hours prior to that so I knew something wasn't right). It startled me because his skin was fine and clear when I put him to bed and then with one poop, he was bleeding. I honestly I have no idea what caused this upset because I was being careful with the foods I was feeding him. So, speaking with the pediatrician today, we are starting a FODMAP diet. However, I immediately noticed "safe" foods on the list are definitely not good for him (through trial and error). But, as suggested, I'm going to start by picking a few foods I know he can eat (chicken and rice and eggs) and give that to him until he feels better and everything seems stable and then only introduce one food at a time (from the FODMAP list that I know are ok), keeping a food diary as we go.

I think the big thing she recommended though was for us to start the medication colestipol for 1 week. She said it would reduce the bile acids in his stomach, helping to stop the diarrhea, so his stomach and bottom can heal. I'm always a bit nervous about doing medications but I decided to give it a try.

But, as for the rash on his face and around his mouth... I got the same story every time I have brought that up... they keep saying it's a teething/drooling rash. They never want to believe it is anything else even with all this mess going on. Even with the rash spreading around his cheeks (he even had some spots on his cheek today from a rash that developed on Saturday). I see an allergist and go back next week for an appt and I will ask him about my son then and whether he thinks I should set him an appt at his office.

It's a start at least and some guidance from the pediatrician.

[lucky]

Hi rlph,

I'm lucky. Welcome to the board.

While you are waiting for next steps, I have some suggestions for the interim.

* But as always... please run any new food ideas etc by your little one's paediatrician / dietitian first. It's always a good idea.


Since you are a mother of three, you are undoubtably running on fumes with being overworked, over needed, under slept... and wrought with worry and exhaustion.

I remember the stage you are in very well. So let's see if there's some things that can help alleviate your current situation, and maybe help in healing your little one's gut while you await further instruction from specialists.


1./
A raw digestive system is HELL.

The danger of all of this compounding is eventually a little one might be so scared to eat that they may start eating less or... start refusing food to avoid stomach pain. And with ongoing diaper area blistering, you run the risk of infection.

But above all that, I wouldn't wish that blistered red rash and pain on anyone. It's excruciating for a child. No one should have to experience that.

When my son was at his worst, he was temporarily given prescription strength antacid type meds to help reduce the incredible acid in his system. It was to prevent a possibility of ulcers developing and buy some time for specialists to understand what was going on in his system. It was an interim measure to keep him safe.

That being said... it was difficult to figure out what was safe for my son to eat and still keep a sane home with the other kids' food needs.

As you have a 20 mo. old right now in distress, I bet he'd like easy / simple meals that are saucy and easy to eat. Perhaps sauce (or broth) with meat and rice etc...


* Has anyone suggested *BONE broth* yet?

If not, it is extremely flavourful AND very very nutrient dense. Plus... it is very easily digested. So that's great for a tender system.

Once the broth is made, you could give as a broth to drink, or with soft meat or with meat / rice and you'll have a meal. If you are unfamiliar with bone broth, have a look online, or just ask and I'll post how I make mine.

* If you look online, omit any ingredient other than water and bones. Toward the end of cooking you can add some salt and pepper, if desired.


2./
Healing a raw diaper area:

We were given a product called IHLE paste:

IHLE cream:
www.rougier.com/newEnglish/display_products.asp?sectionid=7&pid=34

Online shopping:
well.ca/searchresult.html?keyword=Ihle+cream

well.ca/products/rougier-ihles-paste_6591.html

(Maybe ask your local pharmacy to bring it in if you don't want to order online. Some hospital pharmacies also carry it.)

It's the zinc content (25%) that helps to protect and heal the area. Perhaps there is an equivalent in your area if sourcing this is not an option.

If I remember correctly, IHLE (pronounced "eye -lee") may have been recommended over other types for its high zinc content and more natural ingredients (no obvious potential skin irritants). I'm pretty sure our local & Children's hospital used it.

At the moment, I can imagine bathing (contact with water) or wiping is excruciating for your little one's bottom. I'm sure it stings horrifically. But if you can clean the area gently and coat with a product like this.. it will soothe and protect it VERY quickly. Like almost within minutes.


3./
Ask about...

BioGaia:

US: www.biogaia.com
Canada: www.biogaia.ca

Tasteless: 5 drops / day on any food or in any liquid. It was a lifesaver for my son when his body was ravaged. BioGaia should be widely available in any pharmacy. Just ask the pharmacist. It's not prescription, but it is usually kept behind their counter.

But as always... clear it first with your child's specialists.


Also... not sure it will help, but if you have a look at some of my previous posts, you may find some helpful info as in the past I've covered these topics / issues in more depth.

And... as always... please feel free to contact any of us publicly (here), or privately (through this board's private message section).

Lucky 😊

[ukbill]

Has he been eating any Aspartame or other artificial sweeteners?

That has a really bad effect on me if I eat or drink anything with Aspartame it makes the skin come of in my mouth, like an acid burn.

[Stefanie (Ziba)]

My son also didn't quite fit the HFI picture, but his symptoms are so similar to the HFI profile. We still don't have an answer after exhausting all genetic testing, but being on the HFI diet with carnitine supplementation has completely turned everything around for him. I've also seen a dramatic Improvement in his stools since we started bio Gaia six months ago. When he used to get the blistery rash from eating fructose, I would use grapefruit seed extract. You put 10 drops in water and put it on raw skin three times a day and the rash will disappear within 24 hours!

Also, if you continue to have insurance issues, see if you can get the genetic testing done with genedx. They were fantastic and worked with us and accepted whatever Insurance paid. They look at your income.

[Stefanie (Ziba)]

My son also didn't quite fit the HFI picture, but his symptoms are so similar to the HFI profile. We still don't have an answer after exhausting all genetic testing, but being on the HFI diet with carnitine supplementation has completely turned everything around for him. I've also seen a dramatic Improvement in his stools since we started bio Gaia six months ago. When he used to get the blistery rash from eating fructose, I would use grapefruit seed extract. You put 10 drops in water and put it on raw skin three times a day and the rash will disappear within 24 hours!

Also, if you continue to have insurance issues, see if you can get the genetic testing done with genedx. They were fantastic and worked with us and accepted whatever Insurance paid. They look at your income.

[antonia]

Please be careful with the low fodmap diet. It was designed for people with Dietary Fructose Intolerance or Fructose Malabsorption, not for those with HFI. There is way too much fructose in that diet for a HFIer. My daughter became the most sick when we tried to feed her like a "normal" low fodmapper. I'm a little confused why your pediatrician would recommend that diet if she suspects HFI.

[colormist]

To support Antonia's argument about HFI & the FODMAP diet, I did a comparison of the FODMAP diet a while back. This image is the most effective way to clearly show how incompatible FODMAP and HFI diets are.

Here's the unaltered FODMAP diet:


And here's the modified FODMAP diet to make it safe for people with HFI:


The things struck out in red are definitely not safe for HFI. The things struck out in blue are items that I haven't researched enough to know whether or not if they're safe. The remaining items are /mostly/ safe for people with HFI. The FODMAP diet also restricts a lot of foods from the diet that are safe for HFI (barring other complicating conditions). Things like dairy products and refined wheat help round out our diet.

It seems like you've already noticed some things that are not safe for people with HFI, and that's great! With HFI you always have to double-check that what your doctor recommends is in align with the diet--particularly with any medicines! You would think the doctor would remember, but that is very seldom the case.

[lucky]

Ziba,

I'm so glad you found that your son also benefited from BioGaia. That's just wonderful.

Hope his health continues to stabilize & strengthen. 😊


Colormist,

Your picture / chart comparison of FODMAP vs HFI safe food groups is nothing less than awesome.

Oh wow. Wish I had this direct correlation when we first started off. The learning curve on all this was overwhelming...

This visual tool will be a tremendous benefit for many. Much appreciated.

[colormist]

There is really not that much overlap between the Low-FODMAP diet and the HFI-diet. I do not know why I keep hearing about doctors recommending the low-FODMAP diet for HFIers. I do hope the visual helps! I'm always trying to think of more visuals to help educate about HFI. I've been thinking of a graphic/comic of what happens to an HFIer when we eat unsafe sugars for some time now, but that will take a lot of work.

[jgk]

Apr 7, 2017 9:10:29 GMT -5 RLPH said:

My son is being referred to a geneticist to be tested for HFI as suspected by his pediatrician. However, I have my doubts. I have been browsing the forum to see if anyone elses story sounds similar, but it doesn't seem to match. My son was born fairly healthy. He was breastfeed for about 3 weeks but wasn't doing so well (very fussy, not growing as they waanted) and so I switched him over to regular Similac. He did fine with that but I did notice his poops were mucus-y at times. I would bring this up with thee pediatrician and they really didn't say much since he was growing fine and a little faster than the curve (he was right at 6lbs at birth and below 10th percentile and now at 18 months he is 50th percentile for everything). 
Anyhow, problems started when I started introducing foods. I would note after trying certain foods, within a day, he would have a bright red painful diaper rash and he would be super fussy for a few days. Turns out the foods that do this are all fruits and some vegetables. HOWEVER, he does seem to tolerate apple juice occassionally, though I have noticed he gets a bit fussy after drinking it. And while he can't tolerate raw fruits, for a while if I cooked them it was ok. Now, he can't do any fruits EXCEPT apple sauce pouches. He also cannot eat a lot of vegetables anymore --- including things like cucumbers, cooked carrots, corn, peas, and squashes. These were never a problem until the last few months. 

He is growing normally. But, he drinks a lot of whole milk to make up for sparse meals. He eats bread, potatoes, chicken, eggs, beans, rice, cheese, deli meats, apple sauce pouches, cereals, and basically anything else we are eating except the fruits and vegetables. I also give him a kids multivitamin everyday (crushed and in his milk) to make up for vitamins he is missing from lack of fruits and vegetables. 

We are pretty confused. His pediatrician has been pondering this a while trying to decide the best course of action. So, we are off to see a geneticist as a starting point but it doesn't quiet match HFI.