Looking for guidance: possible HFI

[Stefanie (Ziba)]

Hi tipper,

His carnitine levels were low and at one point his acylcarnitine profile was off. He also has has amino acids that were off at one point (when he was severely malnourished). Carnitine supplementation sent him from below normal to above normal which is where our metabolic geneticist wants him. The combination of no fructose/low carb/carnitine suplementation turned everything around for him in terms of growth/stopping the nausea and vomiting and minimizing hypoglycemic/ketotic episodes and acidosis.
Let us know what your labs turned up. We are still undiagnosed, but he is clearly fructose intolerant and carnitine deficient (the latter may be secondary to the former- hard to know) I hope you get some answers!

[tipper]

Thank you! Currently I am on hold until the genetic testing is approved (or not), but will update as soon as I have results back (which may take months yet). So far I only have the abnormal acyclcarnitine profile to work with, and the fact that I do feel like I am recovering on a no-fructose diet, or at least, I have no hypoglycemic manifestations anymore. I am still super groggy at times and have lots of abdominal pain, but I feel both those symptoms are subsiding and I am slowly able to add more foods back into my diet each week.

[Stefanie (Ziba)]

Were you ill as a child, Tipper? Were you naturally averse to sweets/fruits? Finally, have you had a liver ultrasound?
Just curious.

[tipper]

No liver ultrasound. Always sick as a kid, but not naturally averse to sweets or fruits. I was persistently hypoglycemic - a condition that only got worse as I got older. My grandmother and her father both died early deaths from organ failure that was, at the time, attributed to late onset adult Type 1 diabetes (interestingly, the reason I have doctors investigating my case now is that my fasting blood sugars are showing me as pre-diabetic at best, and diabetic at worst, but my post-meal sugars have been normal / low). This family history caused my mother to not allow any sugar in the house at all while I was growing up, although we ate legumes a variety of grains and some vegetables. My liver enzymes are normal, currently, although I have been feeling very ill. Since jumping on the no fructose diet 5 weeks ago, I haven't had a single hypoglycemic event and I'm feeling better every day. Still, my symptoms seem mixed as per the definition of HFI.

[hfimomof3]

Hi Tipper,

I think that desiring chocolate croissants would be atypical for someone with HFI because children with HFI tend to voluntarily come to a dislike of sweet foods. But since I'm not a doctor I would not want to say that you probably do, or probably do not, have HFI or any of the other options. It sounds like your doctors are being quite thorough so I'm hopeful that you'll have a definitive answer in good time.

I think that when we talk about a "strictly safe" HFI diet we aren't so much saying that you can only eat chicken and white rice and nothing else for the rest of your life. It's more that, if someone is having problems with tolerating their diet, there is a very short list of foods that most all of us can tolerate and therefore feel like we can usually rule out as a cause of feeling poorly (and even then, I do notice there are people who feel like they can only tolerate limited amounts of wheat, some people might find eggs problematic, and so on). Outside of that list, there seems to be a fair amount of variability: some people can tolerate some amount of mushrooms, others cannot. Some can tolerate a little lettuce. Others cannot. And so on.

[hfimomof3]

Hi, I just wanted to add, obviously the strictly safe list of foods is limited in nutrients, so that is why you also would not want to just assume you had HFI(which of course you are not doing) and restrict your diet to that list without the help of your doctor, nutritionist, etcetera, to make sure that your dietary mix was giving you all the necessary nutrients, and that you are eating all the foods you are safely able to eat.

[tipper]

Hi @hfimomof3 - this is a great response - thank you. I am also suspicious of the idea of an HFI diagnosis coming back for a few reasons partly because I definitely did not outright reject sweets or fruits when I was younger. I share your sentiment about restricting nutrients, especially right now. I've been so ill over the last two months that I've been restricted to 5-6 different foods for most of this time, and I've been researching a lot about nutrition to try and make sure that I'm able to keep my nutrient (and energy) levels up. There is a reason that humans can eat a lot of different foods!

[oneladyff]

Nov 20, 2017 21:06:38 GMT -5 tipper said:

Hi, 
I'm in my mid 30's and am currently undergoing tests for inborn carbohydrate metabolism disorders. I have been sick with a variety of complaints on and off throughout my life, and have experienced hypoglycemia and urinary problems from a young age. I have thought for a long time that the hypoglycemia was linked to carbohydrates in general and have had myself on a low-carb / ketogenic diet for years. After straying from this diet recently, I realized that I wasn't nearly as sick as I used to be when I occasionally indulged in something like a chocolate croissant. I had also added savoury carbs into my diet, and was eating vegetables and berries. I was actually eating a lot of (low carb, leafy) vegetables, but also starting to realize that things like bagels gave me a lot (like, a lot) more energy and made my thinking significantly (like really, very significantly) clearer. About 5 weeks ago I was sent for tests and I decided that I was going to eat like everyone else did to make sure that the tests actually showed something, and it wasn't all in my head. The day before my tests I indulged in a bag of yam chips and an apple. Within 10 minutes of that apple, I was sure I was going to die. I didn't vomit (haven't since I was little), but my body fell apart and I experienced a fever, chills, incredible lethargy and body pain severe enough that I had to call my husband to come home from work for the first time in our almost 9 year relationship. Since that day, I've been able to eat nothing except meats and fats, and the only 'vegetable' is lightly brined olives. White rice in limited portions is ok, but more than a bite or two a day starts causing an extremely painful psoriasis on my hands to start (which I had once before in my early 20's, but has been entirely absent for the last 14 years). Vegetables don't even make me hypoglycemic feeling anymore (ie. shakes, sweats); now they just make me feel like I can't stand, can't think, and I just cry. My husband brought me a saltine when this happened and it was immediate relief. But bread is destroying me as well - the psoriasis is brutal. I have crazy upper quadrant pain when I've tried to eat other things, and a host of other body pain issues that I haven't experienced in years or ever, including urinary tract pain and incontinence issues. I've been perusing this site a bit, so I know there is potential of HFI, and I am going for a series of tests tomorrow. I'm wondering if anyone can let me know if this sounds like something they've gone through, or if it sounds like something completely different from HFI. If anyone has any advice about the tests I'm going for tomorrow morning (short notice, I know) that would also be great: acylcarnitine spectrum, fasting lactate paired with glucose, transferrin isoelectric focussing, aldolase B activity. My preliminary acyclcarnitine has already come back abnormal, although I'm not sure how. I recently went back to school to do a second degree in computer science and I was struggling badly with being able to think clearly before the last 5 weeks, but the last 5 weeks have pretty much destroyed me (and possibly my chances of surviving this semester). The only respite has been the meat / fat diet that I've been on; things have actually been easier in a lot of respects, and I look a million times better than I have for years, but I am starving. So hungry. Is there a light at the end of this tunnel? 

[oneladyff]

Dec 16, 2017 14:06:40 GMT -5 hfimomof3 said:

Hi, I just wanted to add, obviously the strictly safe list of foods is limited in nutrients, so that is why you also would not want to just assume you had HFI(which of course you are not doing) and restrict your diet to that list without the help of your doctor, nutritionist, etcetera, to make sure that your dietary mix was giving you all the necessary nutrients, and that you are eating all the foods you are safely able to eat.

[colormist]

The brain fog and flu-like symptoms (minus a fever, of course) is pretty standard HFI Hypoglycemia.

Have you tried the HFI elimination diet? Do you take anything for your psoriasis? Do you take a multivitamin?

I don't know how you could manage an HFI diet with psoriasis without some kind of medication to keep your psoriasis in check.

[Stefanie (Ziba)]

Tipper,

His acylcarnitine profile was off (and his total carnitine level was low, so I believe they go hand in hand) until we began supplementing with levocarnitine. It is a chicken and egg question (did intolerance to fructose cause the carnitine deficiency or the other way around). My lay interpretation of the whole process is that fructose depletes cells of ATP (more than any other form of sugar) and carnitine boosts ATP production.

Remy definitely prefers meats to carbs, but some days, he wants more carbs than others- since he is 3, I cannot get an answer as to why, so for now I just go with what he wants.

[tipper]

Hi colormist. In the months since I first posted I've been very carefully managing my diet and I've been feeling significantly better. For experimental purposes, I have been following a relatively strict HFI diet, with attempts to add in some low fructose vegetables in an effort to either recreate the diet that I am more accustomed to / get enough nutrients and fibre in my life. In a lot of ways I feel significantly better. In some ways I'm still not feeling great. I'm a little shocked at how much faster my thinking and reasoning skills are, and delighted to find that my energy levels are way up. I'm still dealing with some skin issues, but only sometimes, and I'm still not totally sure what is doing it. However, the psoriasis is almost entirely gone, and the skin issues in general are much less than they used to be. I'm still struggling with digestive issues, and a bunch of relatively minor (what I assume are) inflammation issues, but on the whole I'm not doing too badly. I'm a little frightened that I do appear to become hypoglycemic, or have anxiety and brain fog, when I start to eat vegetables. That said, I think there is a lot of potential that I still have something else going on since I don't quite fit the HFI diagnosis.

Stefanie (Ziba) I also prefer meats to carbs on most days. The exception to this is when I get more activity than normal, in which case I seem to be able to 'binge' a little on white rice or - preferably - white tortillas

[colormist]

If you do have a confirmed HFI diagnosis (which, from the sound of things you are likely to get a positive diagnosis), then you might have another medical issue causing the skin issues. I have eczema and skin allergies out the wazoo. I also had to have my gallbladder removed due to it only functioning at 6%. A fat free HFI diet is no fun (FYI) and really quite horrible.

Keep us posted on your progress! Also, you can take a multivitamin to fill in the blanks. At the very least, you should take a vitamin C supplement. I take NatureMade Softgel Multivitamin as they're the only brand that doesn't have sugar and I don't have to take with food.

[tipper]

Thanks colormist. I forgot in my last post to mention that I've been taking Primal Blueprint Master Formula. I can't take the whole vitamin serving at once as it makes me feel less than stellar, so I'll look for the Nature's Valley type as well.

[colormist]

Apologies! I got the name wrong. It's NatureMade. I updated my original comment. I've found NatureMade in almost every single store that carries multivitamins, so you should be able to find it if it's not region-specific.

And yeah, I get really violently ill from taking other multivitamins. Not sure why, but they really put the works on my digestive system.

[tipper]

Hi All

It's been a long time since I last posted, but I have learned some interesting details over the past 6-8 months. My genetic testing showed that I do not have HFI. Instead, I have a defect on my PDX1 gene that has not previously been recorded. There is a history of late onset adult diabetes in my family that they think this gene might be linked to, and the doctors' consensus is that it is this defect that is causing my issues, although, since they have never seen the defect before they don't have any data on what outcomes my particular defect might cause, if any.

Despite not having HFI, I am still reasonably (very reasonably) certain fructose / sucrose causes me to have episodes of low energy, nausea and intense thirst, as well as shakiness, an inability to think clearly, and general ill-health. I don't really know if those symptoms are the result of hypoglycemia. I do know that staying on a very low carb / ketogenic diet makes me feel a million, billion times better in every way and that the longer I am on it, the stronger and less sick I am overall - I don't know what I would do without having this diet to rely on. I have also discovered, as a result of my investigation into HFI while waiting for my testing to come back, that glucose does not cause me to have the same symptoms of sucrose / fructose, although I find that adding it back into my diet pushes me out of ketosis and makes it harder for me to get the veggies / nutrients I feed I need. Interestingly, I don't think I am as affected by the fructose in the vegetables when I am in ketosis as when I am not.

I am not sure if any of this information will help any others who remain undiagnosed, but am happy to answer question over the next little bit if anyone has any (I will check this board for the next few weeks). Through all of this, the big takeaway message for me was that I am the best person to know what I can or can not eat. Listening to my body has become crucially important, especially in the absence of any scientific data on how to proceed, and has helped immensely. I am also so grateful to this board in helping me understand more about sugars, and how they affect the body differently - it has made all the difference and drastically improved my day-to-day life. Thank you

EDIT: I should probably add that not everything on an HFI safe diet makes me feel better either. For whatever reason, I feel low energy / ill if I eat most 'raised' breads, but things like tortillas, saltines, whole grain corn chips and products like Ryvita seem to be fine (at least in smallish quantities). 

[colormist]

Thank you for sharing! We get a lot of people on the board that are searching for their own diagnosis. Sharing results like these, even though they are not HFI, could possibly help someone in the future that has gone down a similar path of diagnosis.

I'm happy you've found your answers and a diet that works for you. That's the biggest hurdle that most of us have to get over--HFI or not HFI.

[gerri]

Tipper what province do you live in - in Canada. I waiting to hear back from a Genetic counsellor from Mount Sinai in Toronto. It is month now since my doctor sent the referral.

[tipper]

Gerri, I live in British Columbia

[tummyache]

Tipper, Thank you so much for sharing and following up on the out-come [so interesting what you wrote]. So many folks don't do that and I always worry about them. Wow, what a ride you have had to get your DX. We all wish you the very best; plus, hopefully find that you can control your symptoms through diet alone. So glad you have told us of your journey as, who knows, it could help someone else who is also searching for answers too. Thank heavens for DNA testing!