Suspected HFI - me & my two boys

[meaniejean]

Hello!
I have been reading this board for about a month or so now and I decided it was time for me to finally introduce myself.

I am a mom to two boys with suspected HFI and I suspect that I also may have HFI, although this all seems so impossible to me. I first found this site when my youngest was a few months old. He was having constant vomiting and was losing weight. Because he has always been so constipated I just assumed this couldn't possibly be his problem.

As a child I was always feeling yucky, had a Tang "allergy" and was sick every special occasion or class trip (we didn't really have anything sugary at home - mostly because we were poor ; ) - times when I would have a soda or a piece of cake. I rarely ate fruit - the only thing I liked was McIntosh apples and I couldn't eat a whole one. It wasn't until my mother-in-law made a comment about my "white diet" that it kinda clicked in me that I have a fruit aversion. The only sweets I have ever liked have been dark chocolate and very creamy ice cream, though neither really likes me much. My mom-in-law just thought it was weird because I am such a health nut - a health nut who doesn't like fruit and veggies ; ) Oh - and did I mention that I've never had a cavity ...

In my twenties I had a bunch of GI problems that were never figured out - a lot of pain, bloating, nausea, etc. This coincided with college - away from my low sugar household and into the world of alcoholic beverages and cafeteria pizza, etc. Not a good time for me, but I was used to feeling like crap by this time.

DS1 developed abdominal pain when he was weaned at 18 months and started on rice milk (though he suffered from diarrhea from day 1 - turns out he's lactose intolerant - among others ...). Until that point breastmilk was his major source of food - besides avocado, olives and plain tofu. His symptoms have been sudden and severe abdominal pain, bloating, weird red bumps on his face, urinary pain, "brick dust" crystals in his urine, a small crystal stone in his urine, weird BMs, sleep disturbances and behavior and mood changes. Oh - and a TSH level that keeps going up above normal (hypothyroidism starting? - I have hashimoto's)

DS2 has had problems since birth with GI and urinary issues, but they got really bad after starting therapy for constipation at about 12 weeks old. His symptoms are more severe than his brother's since he is an infant and was on so much fructose for a few months (lactulose, juice, antibiotics - grrrr ...).
He is now on goat milk and a sugar free diet and he is really coming into his own now and so suddenly. It is wonderful to see him thriving. I could write a book here about DS2, but I'll save that for another time.

I brought research to our GI doc and she called me today. She wants to test DS1 for malabsorption and investigate DS2 for HFI. Wouldn't it be more likely that they both have HFI if one of them has it? DS1 goes for the breath test on Thursday.

So, if you made it this far - thank you! I have a couple of questions for you veterans:
1 - If I do not process fructose correctly, do you think it would show up in my breatmilk?
2 - Did any of you or your children have an elevated BUN on diagnosis. DS2's is elevated and they are doing an urinalysis.
3 - Did all of you have fructose in your urine? I think our GI is under the impression that if I give DS2 a little bit of fructose then it will show up in his urine.
4 - If DS1 has a positive result to the breath test does this rule out HFI?

Thanks so much for any help. It is so interesting to read all your stories and finally feel like I'm not alone with these odd-ball symptoms.

-Sandra

[colormist]

Since HFI is genetic, the father would also have to be a carrier of HFI. It seems like crazy odds that they'd both have it, but it's not impossible.

1 - I'm pretty sure (somebody will correct me if I'm wrong) that your kidneys do most of the work in flushing out any fructose from your body. I doubt if any would make it to your breast milk because your body would have had to digest that fructose in order for it to make it there.

2 - Passing on this one. No idea what a BUN is. I was diagnosed when I already knew what I had, so I didn't go through a random testing phase.

3 - Please don't give babies fructose if you have any inclination that he has HFI. It's torture. Again, someone will correct me if I'm wrong, but I think fructose does show up in the urine if HFIers digest it. That's what the kidneys do. They clean out your system of toxic materials. I think we'd all be bloated whales if we kept accidentally eating fructose and it was never flushed from our system. It also smells really sweet and is really dark if HFIers ingest fructose. It's kind of gross.

4 - I think the breath test is for DFI. My geneticist suggested doing this to me, but first wanted to rule out HFI for me. I was dead-set against him doing the breath test on me.

[Sandra]

Thank you Fred and Colormist.

This is all very confusing to me. We have been through a few "diagnoses" with DS1 - first Celiac and then disaccharidase deficiency, but neither really seemed to fit. He responds very well to a fructose-free diet, but it seems that now he reacts to very small amounts. He didn't seem this sensitive before. He becomes a raving lunatic and begs for glucose tablets or smarties when he gets something he shouldn't have and he gets tummy aches, loose BMs, and has pee accidents and says his pee hurts.

Our GI doc said that the DNA test is an academic research test and not diagnostic. She wants to investigate HFI through urinalysis and bloodwork, but I'm not certain she is going to find anything concrete that way. She told me to give DS2 a little bit of fructose and then collect his urine. The docs have all been telling us to just keep trying to give him the fruit and that maybe he will get used to it - of course, not believing us about his reactions. We gave him some fruit babyfood last night and it was awful. He started screaming about 10 minutes after we gave it to him and then he was doing all these weird things like laughing at the wall and then crying and shrieking as well as refluxing a ton. He was so irritable and seemed super thirsty and hungry. The only way to comfort him after a fructose exposure is to give him a ton of his goat milk.

A couple hours later he had watery diarrhea (this is a baby who normally has a transit time of about 36 hours or more) and I could see the baby food and then he threw up a few times. On top of all that, the urine collection bag leaked into his diaper and so I'm not sure we even got enough of the suspect urine.

I keep thinking that it is all just in my head and so we try the food again like the docs say and then we are reminded of why we went to the docs in the first place.

About the BUN - it is Blood Urea Nitrogen and it is supposed to be an indicator of kidney function. His (DS2's) was elevated.

Thanks again for your answers. Hopefully we will know some more about what is going on after tomorrow's appt.

-Sandra

[colormist]

Cravings for dextrose/glucose or lactose after eating fructose is one of the very prevalent signs of HFI around this forum. My craving is usually milk or potato chips--and it's always a LOT. I can't stop myself from eating potato chips.

If you suspect your children of having HFI, why not just keep them on a HFI diet and send in their bloodwork for analysis? I don't understand why doctors won't perform this simple task. Especially if the children do well on a HFI diet. If I were you, I'd totally be in irate, angry-mom phase (similar to the Hulk transformation).

Seriously, though. Get the bloodwork done. My doctors didn't believe me, either, but they humored me because of how insistent I was. Get your bloodwork done while you're at it. That way it's on your record and you won't have issues down the road if you end up hospitalized. Your childhood story sounds a lot like those of us who were diagnosed late in life.

[Sandra]

Thank you for your support, Colormist. It is easy to start feeling like I'm just being a crazy mom.

Well, we went through with DS1 breath test. He didn't have any abdominal pain or vomiting (well - he vomited a tiny bit just from the fast). He just sat in the waiting room like a lump on a log and asked for food over and over again. He said he just felt tired and hungry.

When we got home he had to pee so I checked his urine for ketones just out of curiosity. It was off the charts with very large ketones. I called the GI and also talked with his endocrinologists office. The GI doc called back to make sure he was feeling okay and said she would call back after she got the results.

Anyone know anything about large ketones after fructose ingestion?

Thanks,
Sandra

[colormist]

Ingesting fructose causes people with HFI to suffer from hypoglycemia. Hypoglycemia makes you really tired, inwardly focused (seriously, nothing outside of sleeping and food matter), and have crazy food cravings (potato chips and milk in my case).

Since ketones occur because the body is breaking down fat for energy (as opposed to using the energy from the food he just ate) then I think they might be connected. I tried using the ketone sticks when I went on Atkins. I used them before I went on the diet as a test and during. The sticks always changed color. This would also explain my unique ability to burn 8lbs of body weight within one or two days. (Which also explains why my clothes never fit.)

Outside of that, I haven't had any experience with researching ketones. If I still had the sticks, I'd go home and do a test, but I'm not sure where I stashed them.

[Sandra]

That is so funny - I am also a potato chip addict. I love ALL things potato, actually. And salt, salt and more salt.

DS1 went on this afternoon to eat half a box of Cheddar Bunnies, 4 pita sandwiches and 10 small slices of cheddar cheese (lactose free of course). He seemed much better after all this and was finally playing by this evening.

The diarrhea started at about 2PM and the bloating, gas and abdominal pain came at almost 5PM. When he went to bed he still had small ketones in his urine from just a couple of drops of pee.

He is asleep now, but I am expecting at least a couple of night wakings.

Hopefully we will get some more information tomorrow.

Thanks again for your responses.
-Sandra

[meaniejean]

Well, we got the word today that DS1's breath test was positive. I have read in a few places that this likely means that he does not have HFI, but rather it is DFI. The only problem I have is trying to explain his LBS, his ketones and his urinary symptoms. Also, his little brother and I both have reactions to even small amounts of fructose. Can malabsorption also be an hereditary disorder?

Has anyone gone on to receive an HFI diagnosis after a positive breath test?

Thanks to all. We are surprisingly happy at the DX considering this all began when DS1 weaned from breastmilk 1 1/2 years ago.

[colormist]

Here's a link that discusses the differences between HFI and DFI (or DFM) in pretty clear and plain terms.
www.frusano.com/Fructose-Intoleranzen:_:9.html?language=en

I'm just really curious about these doctors that are performing the breath test without first eliminating HFI through a blood test. If they suspect either one, a HFI diet would be safest for a couple weeks until the results are returned. This is the second time (at least) I've heard of a doctor recently performing the breath test without eliminating HFI first.

[Sandra]

Our GI was convinced that our oldest (Calvin) would have malabsorption and not HFI. He did test positive on the breath test, but I saw the results and they were just barely positive - certainly not congruent with the fallout that has resulted from the testing. His blood sugar control seems very delicate, Saturday he had rectal bleeding and yesterday and today it seems the diarrhea is worse.
The GI got a urine sample from him yesterday - I'm guessing this is because of the ketones and other symptoms he suffered as a result of the testing.
Right now he has a broken arm - last week we went to get the cast off and they took it off and then had to put another one right back on because he wasn't done healing. I just feel so bad that his body has not been getting what it has needed.
His mood is much better today and his sleep is improving, so hopefully his body is almost done flushing out the toxins.