New Member

[nancy]

Hi, I’m new here, but I have been following your posts for a while now. First, thanks to the person who started this and to all of you who post. It’s been a tremendous help.
I am 71 and I am self diagnosed with HFI. All my life I had digestive problems and hypoglycemia. I’ve been diagnosed with IBS, ulcers, fibromyalgia, arthritis, Sjorgren’s, and have had my gallbladder removed. In 2016, my digestive problems became much, much worse; and I developed insomnia that went on for 2 years. I only slept for 3 hours a night. I saw my GP, my gastroenterologist, and an endocrinologist. None of them could help me. I saw a functional medicine doctor in 2017, who diagnosed me with a ton of food sensitivities. I eliminated all those foods from my diet. It helped some, but I still had insomnia. Then while lying in bed the night after Christmas in 2017, I had a gout attack. I was truly flummoxed because I had been a vegan for a while and I never ate a lot of meat. At that time, I had done the 23 and Me dna test. So I googled genes that are associated with gout. There were 5 listed. The last one was the aldob gene. I had 7 mutations listed as pathogenic with 2 copies of 1 of the mutations; but according to 23 and M3, I did not test positive for HFI with the mutations they look for. I started reading about HFI and found your site. It has helped me a lot. I followed the diet and began to get better. Unfortunately, I cannot tolerate the least little bit of fructose. I was eating small amounts of mustard and turnip greens, but I had to give them up when I had severe pain in my sternum and developed white, pale stools, which I think indicated that my liver was not releasing bile. I eat meat (mostly turkey, chicken, and some beef.), white rice, and some white flour with which I make biscuits. I cannot eat any dairy; I have to use Smart Balance instead of butter. Because of the damage done to my small intestine over the years, I take a multivitamin, vitamin c, vitamin a, potassium, magnesium, calcium and iron, and I just started taking a probiotic. My blood work was fine my last visit.
There is one thing I want to mention though. My mother died at 77 from kidney failure and cirrhosis of the liver. In her mid 60’s, her kidneys failed. She had to go on dialysis and was on prednisone for a long time. Then, her kidney function returned, but by then she developed cirrhosis of the liver. She had never had high liver enzymes until it was too late. When I saw my gastroenterologist, I asked “Does liver scarring or cirrhosis show up in bloodwork?” Her answer was no. I truly believe that my mother died from undiagnosed HFI. I had a CT scan done; and luckily, at the time, my liver showed no evidence of scarring. I think there are so many different manifestations of this disorder, and most doctors don’t really have a clue about it.
Anyway, sorry this was such a long post.

[rysmom14]

Welcome Nancy! we are glad to have you. So many people have benefited from this board. some are HFI confirmed and others are suspected HFI and then there are some people that have something else, but find the board helpful. either way I'm glad you found us. My son has HFI and before he was diagnosed, we never heard of the condition. Its such a learning process. It seems you have taken great steps in eliminating foods and finding what is best for you.

[tummyache]

I'm 76 yrs old -- we were born before these fructose diseases were recognized as a possibility. I began having problems the 2nd week following birth... and like you, I did 23andMe, was told "negative for HFI" due to the ALDOB snp's they test for -- but, show anomalies in the raw data reports to other ALDOB snps and some snps for Glycogen Storage Diseases [GSD is very closely related to HFI on the same metabolic pathway; so you might want to consider these too --your health history is suggestive of GSD as well]. Anyway, we (in our 60-70's) were born too soon to be diagnosed… at least in the USA. Doctors are very reluctant to even consider HFI/GSD when looking at us -- they tend to diagnose what they know thinking we would have been diagnosed as a baby - but of course, that is ridiculous since it was commonly unknown in the USA until we were in our 40's. Even now, most of the doctors are ignorant about metabolic diseases as we know from experience. It is all very frustrating to be coming at this at such a late age, I know. I too am dairy intolerant (must be 100% dairy free -- have a long history of dairy intolerance + LCT and MCM6 genetic markers). I plan to demand full carbohydrate genetic screening with a genetic specialist when we return to the USA soon as the price has finally gotten reasonable now, the accuracy has gotten much better too, and I am not getting any younger. I have avoided twice having liver biopsies done, which unfortunately, would have probably finally answered the question once and for all if it is truly HFI or GSD. Keep us posted on what you find out. We wish you luck…and WELCOME!

[nancy]

Thanks for your replies. Tummyache, I looked at the glycogen storage disease and checked my dna for those genes, but I only had a few mutations for those with no pathenogenic ones. I read a research paper about 1 case where HFI had affected only the small intestine causing malabsorption of nutrients and other symptoms. The doctor had mentioned that those with this form had thin, weak nails,thin hair, and were short; and that's me. What's really unusual is that both my husband and son did the 23 and me; and they both have the exact same mutations as I have but no symptoms. My son had a few episodes of hypoglycemia when he was younger but hasn't had any episodes for years. I worry more about him than about myself just because he will not take advice and doesn't think doctors can be of any help. Oh well, it's just good to talk with others who have this disorder.

[colormist]

Both my mom and dad have hypoglycemia, but they both eat sugar and don't have any aversion to sweets. My brother (undiagnosed) and I (official diagnosis) have HFI. I really wonder if people that carry the genes show some signs of HFI, but can still (for the most part) process fructose. I wonder if you son is like my parents (shows some symptoms, but doesn't have the same issues). That would be a relief at least! Does he avoid fructose entirely? Most of us with full-blown HFI cannot tolerate sweets at all. It makes us vomit.

Thank you for joining the group, Nancy. It can be hard to get a diagnosis--even today. I can't imagine how difficult it would have been in the 70's or 80's.

[nancy]

Neither my son nor I had an aversion to sweets. When I was a child, I actually craved sweets, but not fruits. I especially disliked fruit juices. They usually upset my stomach; but because I started gaining weight, I went on a diet when I was 12 and cut out sweets, except for a small serving once in a while, but I never stopped craving them. My son eats what he wants. He doesn't seem to have a problem; but neither did my mother, and she died from cirrhosis of the liver and wasn't an alcoholic.

[tummyache]

I definitely have always had an aversion to anything sweet, becoming quickly nauseous following ingestion of sugary foods. I was Dx'd HFI in an unorthodox way about 1973 between an allergist + researcher doctors at UT-Austin, without a liver biopsy. This is the reason why I have never felt that I have had a firm DX (especially so after 23andMe said I was negative for the 4 most common ALDOB snp's) and why I would like a clear DNA diagnosis (as it gets complicated for medical situations like the question on whether I can safely have the osteoporosis shot Prolia or not that has sorbitol). They pretty much went by my symptoms, I think, plus the fact that my white blood cells kept dying every time they came in contact with a fructose medium they were alternately testing with in the lab -- which they considered to be very strange at the time. Recently, we discovered cysts on my kidneys, and I have a sensitivity to blood thinners, along with other anomalies that are commonly associated with HFI. Hypoglycemia is a problem that we deal with better as we mature, unfortunately, but it remains an issue for me even now. There are probably as many different stories as there are HFI folks. Little ones are so much more sensitive and have to be so much more careful diet wise than adults.

[antonia]

Tummyache, I was wondering has your liver ever shown signs of distress? Increased liver enzymes, fatty or enlarged liver? My daughter has also shown abnormalities with her renal system and kidneys, but no liver damage according to the ultrasound she had when she was 4, almost 5. While I have read that HFI effects the kidneys as well as the liver, it seems like most confirmed HFIers have problems with their livers over the kidneys.

[colormist]

I've been meaning to share this for a while now. These are my liver test results.

2/3 was an ER visit. I went in because my gallbladder was hurting, but this was also a day after eating a single-serving bag of funyuns (not safe for HFI). The ER doctors were extremely concerned about my liver results and kept asking me about how I felt. I felt fine. I looked fine. Clearly my results were not fine (13x higher than the healthy range) and they were perplexed as to why I wasn't showing signs of jaundice.

3/11 was a visit with my primary care physician. This was two days after I had ate something with fructose in it. Again. I felt fine--if not a little shaky and hungry--and I looked perfectly fine. It was just coincidence that I had slipped up just before both of those tests.

Funny enough 3/19 (just a few days ago) was taken the same day as when I had been actively eating oyster crackers that had sugar in them. I was feeling nauseated that morning, so I thought I'd eat some crackers. They were crackers my husband had purchased for himself. I did not read the label before eating them. I had a bowl of crackers and was starting on my second bowl when I realized I had never read the label. I was feeling nauseated all morning long because of the crackers. Four hours later (still nauseated), my results show within the normal range.

It makes me think that fructose's effects on our livers take a little while to do their damage.

[tummyache]

Here's my take on liver problems: I have read that regular medical liver tests at doctor check-up time can show normal until the liver is at a very deteriorated state in some people. (1) I had xanthelasmas (cholesterol spots on my eyelids) discovered first by the oral surgeon I worked for in my early 20's that went away when they started me on cholesterol meds;(2) also I was told during a check-up for girl scout camp either a kidney or liver felt enlarged, but nothing was ever followed up on (in those days there was no CTs, MRIs, or sonograms and x-rays were not near as safe or as good). (3) The only lab number that is really off these days is my ferritin which for the last 15 years or so has climbed from 200 (normal for women) to 665 last time checked. The hematologist decided it was acting as an Acute Phase Reactant. I wonder if it is related to HFI? So little is really known about how our bodies react to fructose.

[nancy]

My mother's liver enzymes were always normal up until she was diagnosed with acute liver cirrhosis. And I'm pretty sure she had HFI. Tummyache, do you have hemochromotosis? I know there is an inherited kind, but there is also a form that isn't inherited. I am convinced that HFI doesn't just affect the liver, kidneys, and small intestine. I know in my case it has also affected my joints and muscles. The uric acid that is created probably damages other organs too.

[tummyache]

The hematologist say no iron problems connected to elevated ferritin. Got a referral today from my GP to a genetic specialist, so hopefully will finally get a formal answer why sugar bothers me so much.

[antonia]

That’s interesting about your liver enzymes Colormist. You’ve experienced the same with hypoglycemia as well if I remember right. Where you feel hypo but blood glucose reading does not show it.

I definitely think it’s more complicated than HFIer eats fructose and immediately experiences low blood sugar and liver enzymes increase. So many variables that could effect how fructose ingestion is expressed and handled by the body. But I’m not sure what to make of my daughter’s perfectly normal liver after 4 years of eating fructose. All I know is that fructose does cause her metabolic distress, not glucose/dextrose or lactose, just fructose. So if this is not HFI I don’t know what else.

I sure wish we could find a diagnosis. Like Tummyache said, being undiagnosed is difficult, on many different levels. As a parent of an undiagnosed child I feel I have a cloud of worry hanging over my head at all times. There is definitely going to be a time in her life where she’ll need to be treated for some other health condition or injury, and I’m tired of living in fear of that. I know the doctors won’t take her fructose intolerance seriously enough in that situation unless she’s diagnosed. Currently her diagnosis is simply Recurrent Ketosis and Hypoglycemia. Which one, isn’t a diagnosis at all, these are symptoms of an underlying condition, and two, it’s not recurring anymore since fructose was removed from her diet. Soooo.... come on docs!!

Okay, rant over. For now. Thanks for listening. 😬

[colormist]

Oh man, Antonia! I am dealing with health complications unrelated to HFI and have been so happy to have a formal HFI diagnosis. It's made getting my medications and treatments so much easier.

I'm actually in a completely different medical system than the one where I received my diagnosis. They have no formal documents showing that I have HFI, they are just taking me at my word. They do take it very seriously and do a thorough check for any sugars in my medications. I mean, I don't trust them and I still do a second check, but it's nice knowing that they're also looking out for me. I do have to tell every single nurse and doctor that tries to give me a medication though. Every. Single. Time.

So, I guess what I'm saying is, I wonder if they'd just take you at your word if you tell her about her medical status? Saying she's Fructose Intolerant might be enough to get them to treat her with the care you need--at least until you can pinpoint a specific diagnosis.

Ugh, I'm not sure if this is good advice or bad advice. I feel like you have enough experience with her diet to know what her triggers are, though. I wouldn't recommend just anybody do this, but you've been through so much crap with the hospitals and doctors doing awful things. I worry about her!

[antonia]

Oh I do! Unfortunately, they don’t take it very seriously coming from me. Maybe I’m ultra paranoid, but I feel there must be some part of her medical records they don’t allow patients to see where I’ve been marked as a complete “crazy mom”. Her geneticist has said it’s statistically impossible for her to have HFI. Whatever that means. And her labs just don’t look like what they think HFI should look like. Although they’ve never actually seen it.

Doctor visits for her are practically useless. Her fructose intolerance is like a giant elephant in the room. At her last checkup her pediatrician asked me, “Well are YOU and your husband following the HFI diet TOO?” Like it’s just some fanatical, sugar free diet I want to subject my child to for some sick reason. I respectfully replied that no, my husband has diabetes and he can’t eat the starch (in the HFI diet), and that I didn’t have any medical conditions that required me to remove all fruits and vegetables from my diet. She stammered around saying she was just kidding. But, I don’t think she really got it, or understands what the HFI diet is or why we go to such great lengths to follow it. It’s anything but your typical health food craze. It’s a clinical diet for a real disease, and if my child does not follow it she’ll be capable of doing nothing but sitting on the couch with a puke bowl at her side watching TV. How healthy is that?!

Whoops. Second rant. I’m on a roll!

[colormist]

OMG, you pediatrician!!! UGH! Like anybody would not eat fruit and vegetables by choice! They are delicious!

[antonia]

I just wish she would show a little more concern over the fact that fruits and vegetables make my daughter SICK and cause her metabolism to fail, rather than what her crazy parents are doing.

[tummyache]

Antonia, how seriously have they considered Fructose Bisphosphatase Deficiency [FBPaseD]? I know it is much rarer than HFI, but looks an awful lot like HFI and is one of the three inborn errors of fructose metabolism. Also, Glycogen Storage Diseases have to be considered too, especially the liver ones. Probably have...just suggestions.

[antonia]

Hi Tummyache. She has also had genetic testing for fbpase deficiency. It was the first thing we tested her for actually, before HFI. I thought maybe it was more likely considering the amount of fruit she ate prior to our awareness of fructose related errors of metabolism, seemed like the fruit should have made her sicker if she had HFI. But it was also negative. But a negative result doesn’t really mean much as doctors seem to know even less about it than HFI. Also we were told that Palmera could not have fbpase deficiency because she did not have lactic acidosis during her metabolic episodes. Only ketosis. But then he also said the same thing for HFI. That HFI and fbpase deficiency were practically the same thing and she should also produce lactic acid if she had HFI. I contacted Dr. Tolan about it, and he said lactic acidosis may or may not be present for a HFIer. So 🤷‍♀️

Our geneticist was also of the opinion that the forms of GSD that can mimic HFI were also out of the question. He said that if she had GSD she would also not be able to metabolize lactose. And she has no issues with lactose.

[tummyache]

It boggles the mind how much they don’t know about HFI, which affects 1/20,000, and FBPaseD, which is reported in the medical literature to be1/350,000 – 1/900,000 currently. That is a small research population of diagnosed subjects to work. Since these diseases are believed to range from mild to sever, how many others are there who are undiagnosed, incorrectly diagnosed, or like me, over-looked, born before it was even a know disease (HFI isolated in 1956 or FBPase in 1970). The literature states there is quite a variety of symptoms and not all patients exhibit all of them depending on unknown factors, the severity of where they fall on that continuum and their age of discovery. How doctors can be so dogmatic about a patient’s symptoms not fitting an exact criteria is certainly a puzzlement to me. This is especially so when there is so little published in the medical journals on this topic yearly. But when I hunt, what I do find at times are articles on patients with differences in labs and/or symptoms with the same inborn fructose intolerance. When do doctors find the time to read these reports or hunt for them? They don’t! Instead, they get their info from an out-of–date source, a synopsis of sorts, an encyclopedia that sits on their desk or bookcase that they probably bought or were given as a graduation gift in medical school. (There are so, so many diseases. In their defense, I will have to take pity on the poor doctors here a bit, as there is no way to know all the ins and outs of every single disease. Doctors are only human after all; although some are reluctant we should discover that fact!)

I really feel for you going through all this with a little one. They are so much more sensitive to everything then we adults and get sicker so much quicker. Being able to put a name on what Palmera has would be so helpful to you especially in medical situations! I hope you find an answer soon.