I'm back after quite a long year!

[WorriedMama]

Some of you may remember me. My son had genetic testing done a year ago that suggested Fbase Deficiency.  One of his variants was suspected as damaging but has never been confirmed in another HFI person. The other is the well known A150P variant. We have several conflicting ideas on how my son should be responding to fructose once we decided to introduce it and see if he had symptoms. Much of what I read online suggests that he could have a milder case and thus why he didn't present with hypoglycemia after drinking some apple juice. I actually did this "test" at home so honestly there wasn't much I could do other than read his glucose with a monitor, at one point it only went down to 76 and then the "time was up" and I gave him some glucose and the Dr decided he doesnt have HFI. Fast forward a month and his stomach pain and constipation are back. The GI Dr asked me what we might have done differently before and I said maybe it was because the fructose free diet didn't have fiber in it and it was easier to digest? Well, we keep doing what we are doing which is eating whatever and trying to be healthy which means lots of fruits and veggies and he keeps getting sicker and sicker. His motility has gotten to the point that he needed a cecostomy tube placed one month ago, and even that is not working. So I decided, ok I have to try something and maybe its time to reintroduce the fructose free diet again and see if there is any improvement. We started that yesterday. Meanwhile today we stopped his laxatives as they can cause stomach pain, and we are cleaning him out via his other feeding tube so that for a couple days he is only getting pure glucose and potassium, and the miralax to try and move this all out of his system. His stomach pain seems a little better today, not enough to know if something I'm doing is working though. I've been reading through many posts over the past two days and I'm hoping to finally rule in or out this condition. I wish that more people could be afforded genetic testing because it would be so wonderful to know if anyone else also has his "uncertain" variant. 

One of the most difficult things is that the Dr's who are evaluating his genetic results are not taking into consideration his symptoms as a baby, the steps that were taken after that with the introduction of foods and formulas and the symptoms that followed each. It seems like they feel since he is 12 and made it this far and is now growing, that he couldn't have this condition. However when I look at online descriptions he fits the profile, especially from birth. The dietary modifications we had to make from the time he was introduced to formula actually kept a lot of fructose out of his diet without us knowing that. What he did, and always has vomited profusely from is formulas, even the hypoallergenic. Once they had him on it exclusively he went into ketosis from vomiting and suddenly they decided something metabolic was going on and ran his first genetic tests. He was 10 when we got those results, and he was 11 when they found the ALDOB mutations that they missed the first time around because they didn't think he fit the profile so those results never made it to his Dr. Prior to going on formula he was a failure to thrive and when he was on formula from 6 years old to 8 he was mostly eating potatoes, rice, olives and broccoli and bits of meat here and there but he had so many food adversions that he just didn't eat much of anything except rice and potatoes. The constipation became the new issue and then once they decided to have him go formula only he landed in the hospital with ketosis from vomiting so much. Tell me...does this sound like I'm barking up the wrong tree? They make me feel crazy, but he is so sick now after a year of being back on whatever foods he wants to eat that his gut is shutting down. I'm keeping a diary of his symptoms everyday for 2 weeks. Do you think that is long enough to see if this fructose free diet is helping? Thanks in advance for your thoughts on this.

[colormist]

You should be able to see noticeable results in two weeks and definitive response in a month.

Are you also keeping track of what he's eating in the diary? I think this would help make or break your case for HFI--or even another metabolic condition. If you can get him to report the color of his urine using one of those giant boxes of crayons, I think that might also help. If we're flushing out fructose, it starts looking dark yellow-to-orange.

And, *BIG SIGH*, yes we have all heard the "dead HFI baby" story--which is clearly not the case. I'm not sure how so many of us would have survived to our 20's, 30's, 40's, and 60's without a diagnosis if we all had died as babies. This is one stereotype about HFI that doctors NEED to let go of. Yes, some babies can die--particularly if they have to use formula (given the formula chosen has fructose in it) or if the parents try to push healthy foods instead of being weak, spineless parents that just let their kids eat whatever they want so they can have one less battle.

Anyway, his self-selected diet sounds VERY MUCH like a self-selected HFI diet. How does he do with (non-whole wheat) pasta, dairy, plain hamburgers (no bun) or McDonald's chicken nuggets?

I think you're being very thorough and doing great work at being your child's champion--regardless of whether or not he has HFI.

How is he doing today on the diet? The turnaround is pretty quick. Mine currently is about a day or two of ickyness (with excessive water drinking) and feeling much better by day three.

[tummyache]

Where are you located? Maybe we need to recommend a new set of eyes [like a doctor or clinic] one of us has gone to who has dealt with similar conditions and is able to help you better than the doctors you are now seeing. It sounds like the current folks have not been as diagnostically open to other possibilities as they should have been from day one!

[antonia]

Has he had his liver looked at? Has he had a full metabolic work up done? If he has been eating a lot of fructose for a year now, then I would think his liver would show it if he had HFI. If not, do it now. Because once he goes fructose free his labs will normalize and you will be told there's nothing wrong with him once again. Doctors don't really pay attention to symptoms or symptom resolution via diet. I've learned this the hard way. Get the numbers to show something is off now, and then if his symptoms improve due to diet test again to see if there is improvement in his labs as well.

You mentioned FBPase Deficiency at the beginning of your post. Was his genetic testing for FBPase Deficiency or only HFI?

[WorriedMama]

Thank you for the support. To answer your questions, he has felt noticeably better on day two of his not consuming fructose. He is cleaning out right now which means he is eating nothing for a couple days while we try and flush his constipation out. I give him a dextrose solution with added salt/potassium during this time. He can have wheat as far as I know. Last year when we first got his genetic results back, we put him on a diet of mostly wheat and potatoes. He did well on this diet but we were battling decreased appetite at this time so we were preoccupied as well. His liver only had elevated ALT and AST a couple months ago. This past weekend they ran his labs and they were normal. Sorry about the genetic confusion. Our Dr gave us print outs of the ALDOB genetic interpretations and it had Adolase B Fructose Deficiency on it. I thought they were the same thing. His genetic mutations are on the ALDOB gene. Variants A150P(pathogenic) and E207Q(uncertain) EXAC browser has it as Polyphen "probably damaging" and SIFT "deleterious", these are of course what scientist think the effect on the gene is, no one knows for sure.
I am keeping a diary of everything I give him to eat, along with symptoms and his bowel movements, everyday.

[antonia]

You said, "once they decided to have him go formula only he landed in the hospital with ketosis from vomiting so much."

Do you mean that vomiting CAUSED the ketosis? I'm assuming he is also hypoglycemic when in ketosis? Because my daughter suffers from ketotic hypoglycemia but we consider the vomiting a symptom of that, not the other way around. When the vomiting begins we know we need to go to the ER for IV dextrose. The question remains, however, what causes it? Does fructose cause it? When she's on a HFI diet, no hypos, so we believe it. The doctors do not however. Her other labs don't support it. Her genetic tests are inconclusive. So this is the diagnostic limbo we end up in when dealing with rare or unknown diseases sometimes. It's a scary and exhausting place to be. My daughter also took a fructose test (a fructose malabsorption breath test) at age three which seemed to cause her no immediate illness or distress. But continued low levels of fructose over time (via a Low FODMAP diet) and she becomes sicker and sicker just like your son. If your son does better on the HFI diet stick with it even if doctors don't acknowledge the meaning of it. Also, consider other genetic testing for FBPase Deficiency and GSD's. Given his history he might be a good candidate for a liver biopsy. Once he is stable and healthy enough that is.

[WorriedMama]

I personally think the for formula caused the vomiting and the vomiting caused ketosis. He did not become hypoglycaemic prior to the vomiting as far as we know. However as a baby he vomited his formulas, projectile vomited, had to give up on finding a formula he could tolerate. Day 3 was yesterday. No more pain and we fed him baked potatoes and grilled shrimp for dinner. We'll see how he is today! Hopefully his constipation imporoves, this will be a huge sign we are on the right path.

[ukbill]

Psyllium husks will sort out his constipation.

Its none digestible Fiber so passes through the gut without being digested.

If he is HFI / Fructosemia potatoes are really not a good idea at all.

How is he on meat and fish? How is he on Dairy foods?

Keep smiling

Fodmap diet seems to cause a lot of problems for many people its certainly no good for HFI / Fructosemia people.

[WorriedMama]

I thought white potatoes broken down into glucose and therefore were considered a safe fructose free food? At least from what I've read online. He is allergic to milk and eggs so those are out. He does ok with meat and fish, but he doesn't love them by themselves, he likes tacos, hamburgers, chicken nuggets, fish sticks. I have to reproduce versions of those that are safe, and I'm not super great at it. He misses his ketchup and hotsauce. He does ok without them, but he liked the vinegar and spicy flavors they added. Since he can't have them, he doesn't like chicken as much any more. As far as Psyllium husks, do you recommend the powder that is easy to find online?

Thanks for all the help!

[lucky]

Hi Worried Mama,

You must be at wit's end with concern ...and your son must be an angel for everything he is going through. My heart just aches for your family right now as some of what your son is going through is a very familiar part of my son's history.

Let's see if we can help him out.

I have some suggestions you may like to consider clearing with your son's dietitian or specialist...


1./
* IV hydration

( -for hydration / electrolyte imbalance- )

In hindsight, it is what corrected my son's issues (especially digestive / *constipation / metabolic / stomach pain) 3 separate times until we got his diet right. Other than it's obvious hydration and balancing, I've looked (recently) into other possible reasons why it was so beneficial. If you look online, you'll notice the solution contains electrolytes -which are composed of elements like sodium, potassium, calcium, bicarbonate, magnesium, chloride and hydrogen phosphate. Each of these are important for balance. Have a look online to see if your son is getting some from the foods and liquids he is currently consuming.

*Magnesium* in particular helps with alleviating constipation.

But if you look online, a lot of magnesium comes mostly from green leafy veggies and many other fructose type foods (like beans, nuts, seeds, dark chocolate etc), so currently your son may or may not be deficient. Also, stress and/or an active lifestyle can deplete the body's reserves even more.

Perhaps those with stable health and diet are balanced in all nutrients. But with children who are under serious investigation, those who are still taxed (growing or developing immune systems), those whose digestive systems are still volatile, and/or who may not be on a consistent safe vitamin regime...

Sometimes, sneaky but key elements like vitamin / mineral deficiencies may be temporarily overlooked when bigger, necessary metabolic issues are being investigated.

Consider a look to see if any of the above may be aggregating your son's issues?

Obviously, the hydration part of an IV greatly helps with constipation... but if your son is currently drinking a good amount of water / milk and it is not helping with motility, magnesium might be an issue to also rule out.

Recently, I learned that magnesium is often called the forgotten electrolyte. Hmmm...


2./
* Vitamin D

If your son is sweating during the day (or night time while asleep)...

Yes, consider hypoglycaemia as a cause, but also look into his *vitamin D levels. That is a nasty hidden issue if deficient. Not only does it carry serious issues if it is too low, but it's sweating symptom results in a higher chance of causing a dehydration / electrolyte imbalance.

Vitamin D also aids the colon.

Why are these important? Because issues (even small, easily correctable ones) can cause a domino reaction in the body -which can then create havoc on an already tender digestive system. Or... add to other potential metabolic issues - issues which also include blood sugar balancing, constipation, digestion (digestion is extremely painful without proper hydration balance) etc...


3./
* Constipation / Fibre

I've read that one must clear out a very constipated system before trying to add fibre to aid stool movement. Otherwise, it can compound the issue. Not sure if that's also the case when using psyllium to start, but maybe check regardless before using.

* Always check everything before changing anything in a child's diet under these circumstances.

I think this "clearing out" of your son's system is what you describe above. The problem is... then what. Like ukbill suggests, psyllium may be a source that will help at this stage... but maybe run the timing by your son's dietician / specialist first. Just in case.


4./
* Vitamin C

Aids not only in healing, but also in stool motility.


5./
* Bio Gaia: ( -Probiotic- )

USA: biogaia.com
Canada: www.biogaia.ca/products

My son (investigated genetically for both HFI and FBPase deficiency) first started taking it at 10 or 11yrs old and used it for awhile. Our gastro team recommended it to rebuild his digestive system from years of serious damage. Perhaps run the idea by your son's team. Unless something has changed in it's composition, it was considered to be the only fully natural aid that was safe. It helped tremendously.


6./
* Bone Broth

Has anyone recommended BONE Broth? I wish I would have known about it in the depths of our worst times... UGH. I wish.

My son is 15 now and I've been making it for about 3 years.

If you use chicken or turkey bones, you'll get a chicken soup style broth. Not sure if most are aware, but the wonderful rich flavour that we associate with regular soup comes from the bones -not the meat.

Anyhow, bone broth is a very gentle / easily digestible way to get an incredible amount of healthy vitamins and minerals into a body's digestive system. Especially important for young ones trying to heal. And it's tasty clear liquid is nourishing and hydrating, too. So that's a win-win.

Bone broth:

Essentially, by slowly simmering bones in water (barely covering the bones) over 12-24 hrs, nutrients and minerals from the bones' marrow and cartilage infuse into a flavourful broth.

I simmer the bone / broth for 24hrs so the flavour is rich and consentrated, but also to maximize the nutrients coming from the bones as they make the broth.

For HFI (and or suspected people), obviously don't add anything other than bones and water. Maybe toward the end add a little pepper or salt to taste, but that's it.

So far, I've only made it from chicken bones or turkey bones as they are the mildest tasting (and most familiar), but I've heard you can make it with any, or use a combination of bones from different animals (like chicken, turkey, beef, pork etc).

After the broth is finished cooking, I strain impurities, cool it in the fridge over night -and in the morning, I remove the solidified fat that rises to the top. I then divide the broth into small containers and freeze extra for future need.

Although it's easy to make, it takes awhile -so I now try to make a larger amount so I always have some on hand (in the freezer) when needed.

* Because a clear broth is easily digested, it gently soothes a sore / raw stomach while being an excellent way of absorbing a wonderful amount of vitamins and minerals into an especially delicate system.

My son now swears by it. He says that if he's feeling off or sick, it really helps him to get better faster. Whether he drinks it in a mug, or has it as more of a meal with meat and noodles, it's great.

Realistically, it's full of nutrients and hydration, so why wouldn't it be...

Fyi... if someone has an infant / small child, freeze the final product into ice cube trays (and then later store the individual ice cubes in a freezer bag in the freezer). Using broth is great way to add moisture, flavour and additional nutrients to rice, diced (or minced) meat and helps to reduce the gritty taste of plain meat in early food eating stages.

1 cube is generally equal to 1 oz.


*Worried mama...

If you are interested in making bone broth, I have some recipes, nutrition info and personal tips I can pass on if helpful. But perhaps clear it with your son's specialist, first.

Also, if you officially join this HFI site as a member (it's free), it also enables you to leave private messages (on the site's system). Some find it convenient if discussing delicate issues...

Let me know if I can further help in any way.

Lucky 🙂

[ukbill]

The whole husks not the powder I think that breaks down more than the whole husks. That was my feeling when I tried the ground powdered husks but did not like the flavour (metallic taste) and did not feel quite 100% on it.

Potatoes most are really quite high in sucrose and fructose I'm afraid.

Yes the starch breaks down into Glucose but there is some sucrose and Fructose in there too.

How is he on white plain (unadulterated) rice?

I endorse all of Lucky's comments above.. all good advise there.

Herbs and some spices should not cause him any problems in the quantities he is likely to eat. So if he likes Chilli then add a chili to the food you are cooking him.

Pickled chilis are likely to have a far lower Fructose load than plain fresh ones providing the vinegar is safe?

Plain white distilled Malt Spirit vinegar is safest bet, just stick a load of chillies in there for a week or so before use.

If you want to reduce the fructose load as much as possible only put a few in a large volume of vinegar this will leach out most of the Fructose into the vinegar reducing the amount in the chili.

This works for other foods as well although not sure it will drop the amount of Fructose in an onion enough to make it safe..

Garlic can be made safe by putting cloves into oil (Sunflower, Groundnut or Olive) and leave them to soak.

After a week or two the garlic flavour infuses the oil but the Fructose in the Garlic remains in the Garlic clove (Fructose is not soluble in oil).

Chillies can also be made safe this way, but to make safe chili oil load the chillies in not just a few to get the chili flavour and none of the Fructose.

Marinade the Chicken pieces in Chilli oil before cooking but be careful the oil can get VERY spicy hot!