new diagnosis--not many symptoms

[figchip]

Our 3 1/2 year old daughter had previously been "diagnosed" with ketotic hypoglycemia (a "diagnosis of exclusion", they've called it, because really it just meant that they only knew what it wasn't, not what was actually wrong). After her 3rd hospitalization for low blood sugar, the endocrinology team sent off for another genetic test and it came back positive for fructose-1,6-diphosphatase deficiency. Her geneticist and dietician have put her on a fructose-free diet, including no fruit, fruit products, sugar (of just about any type) and sorbitol. We have our first appointment with them today, actually. The difference I've noticed after a brief reading of some posts here is that she has never shown any outward effects from eating fruit or sugar--she loves all types of fruits and, like your typical kid, loves chocolate, candy, ice cream, cake, etc. She has never vomited or complained of a stomach ache after any of it. Her liver was never enlarged during any of her hospital visits. Her only real symptom was hypoglycemic episodes after "extended fasts", basically overnight after a light dinner, after which she was put on the cornstarch "shakes" before bed. These have pretty much done the trick, and she's been fine (as far as we can tell) until she had a virus earlier this summer which started w/ a fever and ended w/ her being unable to keep any food or liquid down, hence an expected blood sugar drop, so we took her in to the ER for IV dextrose. She also has exhibited elevated lactate levels when admitted to the hospital after these hypoglycemic episodes. This is pretty much it. We are in St Louis, MO USA. Is this included in HFI? Obviously, we'll do whatever we need to to keep her healthy, but we are also concerned w/ giving her the best quality of life we can, and if she doesn't need this restrictive of a diet, I'd rather not force it on her. Anyone have a similar circumstance, what is your experience? Or know something that might help flesh this out a bit for us? Right now it just seems like they've slapped a diagnosis and treatment on that don't seem to fit. Granted, it is new and we haven't discussed it all w/ the doctors yet--I'm sure I'll know more in a few hours. Still...

[charlie]

Hi and welcome on board. What a worrying time for you but sounds like they are acting quickly which is good news.

The answer may be in the difference of the enzyme deficiency. Have they tested for Aldolase B which is the missing enzyme in HFI as such, and this may be why she has not had any adversion or problems. (I must remember to archive things when I find them ) I remember reading something recently about the different symptoms according to the missing enzyme and it may be that the one she is missing causes a different reaction in the breakdown of fructose. I will have a think and see where I saw it so basically she may not have had the symptoms severely until something else eg a virus triggered a chain reaction.

As with all these sugar metabolism problems you must follow the doctors advise and eliminate things from the diet for now, it maybe further down the line you can try a challenge with things but let her system settle down to start with and also to be fully and properly tested. If they didn't do the Aldolase B gene it may be a good idea for them to test for that too.

In the meantime I will have a rummage through my archives and see if I can locate that article, or someone else on here may know.

All the best
Charlie

[lucky]

Hello figchip,

I am literally sooooo excited right now!!! Your situation is something I know LOTS about...

Your diagnosis of FDPase deficiency is the same as FBPase deficiency. The "D" and "B" difference simply represents "Di and Bi".

Here, our specialists refer to it as Fructose 1,6 Bisphosphatase deficiency (FBPase deficiency). same-same

If helpful, I am happy to share further information, both personal and medical, (or links) with you -anytime- whether public or in a private message. Unfortunately, I have an arsenal of experience/info. and at this point, a relatively good grasp of knowledge on this version of metabolic fructose issues.

FBPase deficiency is known for looking a lot like HFI when not well managed. It is often initially confused for it also, until DNA test for adolase B enzyme (deficiency) comes back unaffected.

*HFI has an issue with adolase B deficiency.
*FBPase deficiency does not.

Apparently, the markers for HFI and FBPase deficiency are very close in line genetically. So, it is close enough to confuse, but far enough for difference. And both bound by a problem with fructose. But, as you are very well aware -firstly- has a primary issue with storage and retrieval of energy. Hence the need for cornstarch treatment in the early years... BUT with the additional "kick" of fructose issues and potential HFI like symptoms too.

Our geneticist generally explained it to us as this...

The first biggest concern is "feeding the liver" as once the liver is filled with food energy, it puts extra into storage in the body. Usually, what normally happens if a person hasn't eaten in awhile -or- exhausted the immediate usable supply within the liver, the body temporarily re-converts the body's stored supply of energy back into the liver until you eat again. It is the way the body bridges energy inbetween refilling with a meal.

However, in the case of FBPase deficiency, the putting into storage is fine -but- the re-convertion is the problem. This is why the issue with blood sugar especially. And this is the reason for the cornstarch shakes in infancy and earlier childhood. It takes longer to digest, thereby bridging energy longer between feeds (like at night when sleeping).

We were told fasting tolerance generally improves with age, starting around the age of 8-9 yrs old, and noticeably by 10-11yrs. By this latter time (and then to adulthood), the liver naturally matures into a larger size and able to hold more "current and accessible" energy. More liver storage space = longer safer energy.

Feeding according to "filling the liver" works well. Any more than that, and the body ends up putting excess energy into storage for later use. This is not helpful as this is where it "grinds" when trying to re-convert energy (if later needed), and at a time when liver energy supplies run low. So the idea is to try and avoid having to rely on the re-convertion. Hence eating more often, and not in excess.

Undiagnosed (and unbalanced / ill) individuals (mostly the young) trying to eat a normal fructose filled diet and at regular "normal" time intervals (thereby trying to last between meals -or- through-out night when sleeping) will have issues (and worse so if health is taxed). It can lead to signs like hypoglycemia (certainly), acidosis, potential fatty liver (over time) etc... and also other HFI symptoms. Most caution is *especially* when ill with fever etc.

*FBPase deficiency is also generally known for potential fatty liver, and not necessarily enlarged liver as in classic HFI.

And although hypoglycemia etc. is definitely related to storage and retrieval issues, it is also related to fructose consumption.

Whereas HFI needs very little fructose for hypoglycemia etc. to start, FBPase deficiency just requires a larger dose for the same to happen. And just as in HFI, has the same risks for fructose overload in the system. It is just as life threatening in this case (like in i.v. infusions). It just needs a higher amount of fructose to activate the process.

How is it connected to fructose and needing it's diet restriction?

Well, both HFI and FBPase are closely linked on the same genetic strand. Somehow, if FBPase deficiency (and ratios of fat, protein, carbs) are not followed (along with the primary energy/storage issue), one will have problems. Especially in illness or fasting.

And because it is ALSO triggered by fructose consumption, one can go into a downward slide from not only energy and storage issues -but- then also HFI issues too. Basically, at that point, two metabolic issues in one. Which is why the pre-diagnosis confusion as to compounding symptoms. Nice, huh?...

Sounds nasty, but once you get a diagnosis and get over the learning curve of all of this, you will find that the worst and most dangerous is FAR behind you and your family. And as with anything, life is just a bunch of habits (eating and other) and this becomes easier with time. Convenient? no. But definitely manageable. And less severe with age (as liver is larger and can store more than in early infancy / childhood). And of course, as long as diet (and overall health) is mantained...

But illness is always a potential concern.

You just have to have faith that everything is manageable when you know what you are dealing with. The most dangerous is when you don't. That's scary. The unknown is scary. And often dangerous. And with this, we were told the most dangerous time is in infancy and early chidhood (as there is a high mortality risk with the energy / storage portion involving hypoglycemia / acidosis etc). You've already gone through that risky period (and without a diagnosis at that point) and come out the other end to safety. Bravo.

But now, you will have another learning curve... to piece together the past... and use it as clues to how to thrive in the future (with the new information you will soon have from your specialists).

Your daughter will thrive. She will have a wonderful, vibrant and healthy life. All because you have stayed strong, vigilant, and are now armed with a diagnosis -and- a metabolic team behind you. You are in safe hands now. You can breathe...

Life is going to be sooooo much better now.
And safer.
And slowly make sense.

The things you will realistically learn...

FBPase deficiency is triggered by energy and storage retrieval being taxed. Exercise, illlness (or anything that requires the body to use more or run low) or fasting too long, will need to be watched. And of course your daughter will need to eat more often. Or bridge with cornstarch to even out energy (blood sugar) levels at younger ages.

Watch out for illness especially. These kids sometimes get hammered by it and often have a hard time getting better. And if this happens, then run the high risk of tipping into metabolic distress like your daughter did earlier. Everything is a balancing act... and like with many other issues, one is always more vulnerable when in a weaken state.

Next, is that fructose is a major trigger to compound the problem. You will learn that the lower fructose in the system the better. And although it is medically published that those that have FBPase deficiency can handle up to a maximum of 2g of fructose/kg per day. That is an absolute maximum. And not a recomendation. I think it's an insane amount. Especially if young and more vulnerable -or- not balanced / healthy long term. Either way, diet, lifestyle, and health must be monitored by a specialist.

As such, FBPase deficiency's "potentially possible" fructose ingestion parameters sharply differs HFI's published max of 40mg of fructose/kg per day.

And although we were given those figures just as a comparison, the reality is that a child with FBPase deficiency may not -or no longer should- handle anything but a minimum.

Problem is that research shows anything much more than most minimal HFI standards (or close to it) needs to be very carefully monitored for long term metabolic stress on the body. As it is a slippery slide to starting the metabolic disfunction... and then later danger.

And if nothing else, less is far better as even those who could handle more than a cautious HFI amt, if nothing else, showed growth slowing / stopping. So obviously, the body is taxed even if one thinks in a safe, but higher range...

It is something to be taken up with your specialists.
Perhaps a very low diet is only in order until the body is fully detoxed, healed and stable long term.... time and monitoring will tell.

Our son (10yrs old) has been heavily investigated with DNA analysis initially for HFI (neg) and then FBPase deficiency (neg). And then so many tests even after those, like in-hospital tests (Fasting test, Fructose Challenge, Protein Challenge) and MANY other serious and often painful ones -including a thigh muscle biopsy (Mitochondrial dept) to rule out all other things fructose and life threatening...

Doctors were absolutely convinced that if not HFI, then absolutely FBPase deficiency. By then, they thought the FBPase deficiency DNA test was just a formality. However, even now with a "neg" he is treated as FBPase and on an HFI diet until otherwise informed. It is to err on the side of caution as they aren't quite convinced of the negative status (from other previously questionable blood work etc). And especially as diet and frequency of eating has completely corrected him long term. So, although we are not officially confirmed, our son is still treated as highly suspect (perhaps with some mutation they are uncertain of). But he is watched carefully. And your story is very, very familiar to us. Very...

We were told that realistically, published allowable fructose loading #'s are a rough guideline. Because there are so few with FBPase deficiency, stats have some limitations. And because no one really understands how much fructose is individually needed to slowly start creeping into dangerous territory, the less the better.

The limit is not well understood, so an HFI like diet is more likely recommended for safety and certainly stability. Especially in the young where there is always energy taxing issues (as in growth and a young immune system still developing).

Growing, exercise, illness, fasting and diet (if wrong) all can be taxing. So, you want to be vigilant. And a good, safe diet only adds to the protection. And with that, a stronger immune system for protection. It is needed... as illness, fever, or infection can cause a downward spiral quickly in the young. So the best protection is for health to be strong and stable so the chance of illness (or it's severity) is lessened.

And above all... I almost totally forgot.

*HFI:
-has a strong protective aversion / distain to the smell & taste of sweets.

*FBPase deficiency:
-has *no* general aversion to the smell or taste of "sweets" (it's a hallmark clue).

As such, you will probably find that this lack of protective sweet aversion is, sometimes, an issue. Without this protection (which strongly benefits those with HFI), it is sometimes a challenge to gently teach to avoid all (or most) things previously familiar or sweet tasting. It is a hurdle sometimes, because a child must now always practice willpower. And be responsible beyond their years. It's difficult when unsafe foods still smell yummy and inviting to them...

*So, FBPase deficiency is usually suspected after HFI testing.
*It can look a lot like HFI... but is not. Yet, equally serious.

Ooooh... this turned out to be longer than I thought...

The info here is not all inclusive, but perhaps it will give you a quick start -and- give others a little understanding of this version of metabolic fructose issues.

End result, I think this site will be a great place for information for your family. And if nothing else, give you the platform for further investigation or reflection of symptoms / patterns as they arise.

FBPase deficiency is even more rare than HFI...
So, it's comforting having the option to be in contact with other "fructose people" that understand metabolic issues connected to fructose. There is such a wealth of info within this site, and the people that support it. Many have hunted down info worldwide and documented much personal experience. Very compassionate and informed community. They are a great source to bridge you between metabolic doctor appointments, if needed.

The only caveat, perhaps, may be a need to consider modifications to accomodate for the energy and storage aspect. But for that, I feel you will get great medical advice from your specialists as they carefully monitor your daughter.

So, welcome -- I am so happy you found this site.
And congratulations on your daughter's diagnosis.
Life is going to be so much friendlier for her now...

Best wishes,

Lucky

[figchip]

Wow, thank you, Charlie, and thank you so much, Lucky, for all of the information. After speaking w/ the geneticist yesterday, I felt like maybe I was a bit premature in posting on this site and was afraid I'd wasted the time of anyone who had read my post, as he stressed that it is different than HFI, "the disease", as he said. Similar but different. I'm glad I didn't delete it

Yes, he told us a lot of the same--that 2g/kg maximum allowance, for example. They took more blood from her yesterday, possibly to check where she falls within the 0 to 30% enzyme function that may allow for some level of "ok" sugar intake. We are just looking at that as a bit of wiggle room and by no means would try to max her out on fructose every (or any) day. I am sure I could ask you a million tiny questions--like, do you have any food/cookbook sources w/ a broader list of things she could eat/we could make? Apparently she can have dextrose powder, and I saw that you just need to multiply sugar amounts by 0.7 to get the dextrose volume for any given recipe, but I have yet to try it (and I guess I need to find some good carob--something I never thought I'd say, being a slight chocolate snob). We've ditched her usual nice healthy organic fruit yogurt for plain yogurt w/ vanilla corn syrup and food coloring for now, and I'm hoping I can find maybe some fruit flavor extracts or something online to flavor her yogurt and cornstarch "shakes" with (we used to use Pediasure--nice and thick and heavily flavored, masked that chalkiness fairly well...now milk), all kinds of things, really. Found some sugar-free Cool Whip and Crystal Light pink lemonade...she was already such a picky eater, so this is a fun new added twist. Lots of macaroni and cheese and crackers and milk and cheese---she has very few vegetables that she'll eat, but maybe the lack of fresh fruit will make her a bit more receptive to some of these vegetables (she helped plant the garden but doesn't want to eat anything out of it--ha). It's all about food right now...and she starts preschool today! I just finished typing up a letter explaining why she can't have the daily provided snack of seasonal fruit--2 weeks ago, I would have loved that as her daily snack (they give crackers, too--I said crackers are ok, as long as the sugars are low! Dietician said she definitely wouldn't want her to have anything over 3g/sugar per serving, at most. Bye, peanut butter Ritz Bits--one of her few favorites).

We have to have her baby brother tested some time soon as well. The geneticist did say that around 10 years old or so (matches up w/ your 8-9 yrs), things ease up. So you still have him on the same diet? Do they think he'll be able to safely have a less restrictive diet soon, or ever? I'm hoping our daughter can go back to a more "normal" diet, or at least have the option to go out for a nice dinner w/ friends or something (when she is an adult) without having to bring her own food in a bag. I joke, but...really...
Ok, have to go prepare for first day of preschool (afternoon sessions). Thanks a lot!

[ukbill]

Figchip.. welcome to the site..

It looks like Charlie / Lucky have the info you need. to at least get some understanding of whats going on.

Glad we can be of help

I am quite good a t lateral thinking.. (ie I think best when lying on my back.. ) so if I can help with recipes etc.. let me know.

It's all a case of adapt and make do I'm afraid.

If you are looking at slowing down the absorption of foods to make the food value slower releasing, so the body stops trying to store the excess food for later (which it then cannot release back into the system)

I can suggest a none-digestible plant fiber which slows down the digestion of foods.

Its called Psyllium Husk and should be available in just about any health food shop.

Of course speak to your medical professional before following any advice given.

Keep smiling

[angelad]

I have not posted or lurked in a while - I feel like an orphan. I've been frustrated and depressed about not getting a definitive diagnosis for our our family. I am so happy to have found this thread. For now, our diagnosis is "ketotic hypoglycemia." Genetic testing for mythree year old son revealed 5 homozygous mutations on the FBPase gene. Unfortunately, they haven't been proven to be "deleterious," but the experts won't guarantee they are benign, either. His genetic tests for HFI showed one heterozyous mutation for HFI. Fasting tests and fructose tolerance tests in the hospital revealed ketotic hypoglycemia with mild lactate elevations. A liver biopsy is not an option nor necessary at this point. We proceeded with genetic testing for myself and two daughters - we all have the same FBPase mutations, although a couple of them for each of us are heterozygous instead of homozygous. We are all symptomatic. My husband responds to the FBPase diet and has the same hypoglycemia issues, but was not tested because he is active duty military with only 4 or 5 years until retirement, which he doesn't want to jeopardize.

My son has been hospitalized for ketotic hypoglycemia and we also ran the gamut of tests (some inpatient). Baylor suggested testing for Glycogen Storage Diseases and found one heterozygous mutation (GSD III) for which the implications are unknown.

I have just started corresponding with Dr. David Weinstein at the University of Florida. He is the leading doctor in GSD issues. GSD I is very similar to FBPase deficiency, with the bonus of not tolerating lactose and galactose. Following his feeding guidelines (except for a little bit of goats milk for us) and cornstarch protocols for GSD I has changed our lives. We take cornstarch doses 4X per day and Glycosade (a prescription slow-release starch) at bedtime. We also have to severely limit protein and fat, as well as total glucose in a meal to prevent rebound hypoglycemia. The whole family is symptomatic and we have blood glucose levels to prove it.

Dr. Weinstein will probably not see us because we, in all likelihood, do not have a GSD, but he is going to try to direct us to a doctor who will help us out in getting a more definitive diagnosis. As figchip mentioned, who wants to do this diet if you don't have to?

That being said, it is amazing what the proper diet will do. All of these symptoms have been eliminated or drastically reduced: insomnia, anxiety/panic attacks, urinary frequency and wetting accidents, leg pains, headaches, broken veins on the cheeks, severe sleep myoclonus, hypotonia, chin trembling, irritability, OCD, ODD, diarrhea, staring spells, tinnitus, inability to focus on school work, and more. Liver enzymes and BUN/creatinine levels have normalized. My son has grown more than six inches and gained 10 pounds in 7 months. Your body can do amazing things when it isn't constantly in fight or flight mode due to impending hypoglycemia.

Lucky, can you provide some links to the information of the how FBPase effects the conversion of glycogen in FBPase? I understand how gluconeogenesis is effected, figure out why our glycogen stores aren;t holding out longer. I am really curious about the metabolic process that causes that. I keep thinking we should be able to go longer between meals...I have been so frustrated in having to feed everyone so frequently. With cornstarch throughout the day, we still have to eat every three hours. Without it, we are symptomatic no less than two hours after eating. Blood glucose plummets later, but those counter-regulatory hormones really kick a punch in the symptom department.

I am also happy to see your comments on fructose tolerance. We have virtually no tolerance to fructose. We are at HFI levels. So frustrating when all the literature says you should tolerate more. Even more frustrating that you can't eat a big old steak to fill you up. A steak dinner will send us into hypoglycemia land just as fast as an apple. We are so tired of crackers, bread, and pretzels. Just for added fun, we are positive for celiac disease as well having cow's milk sensitivities.

Can you give some details on your son's diet and eating schedule?

Our doctor feels the FBPase defects are the root cause of our problems, but it can't be an official diagnosis without the liver biopsy.

So, is it okay for me to hang out here on this board? I'll just have to salivate and suffer when reading the posts about the rich creamy sauces and grilled steaks. This board has been a real encouragement to me and very helpful in regards to fructose-containing foods.

I hope I haven't high-jacked figchip's thread, and sorry so long.

Being as late as it is, I don't know how coherent my post is, but typing it has been therapeutic. Thanks to all for "listening." If there is anyone else out there with FBPase issues, I'd love to compare notes.

Sincerely,

Angela

[ukbill]

Angela it is not a problem.. we are all here to help one another.

Lucky I think is your person perhaps who certianly knows about this condition.. message her and get chatting

Keep smiling

[colormist]

Hi Angela! We're happy to have anyone we can help. Your diet sounds nightmarish, though. I can't believe your whole family is affected. How did you and your husband manage before discovering something might be wrong with your diet?

Also, if you could do the group a (huge) favor and add a brief diagnosis bio in your profile signature? A signature can help us keep everyone's diagnosis straight so we don't recommend something inappropriate.

[lucky]

Oh Angela,

I am sending you a big hug.
You are not alone.

Whether HFI, FBPase deficiency, GSD, Mitochondrial, CSID, FM or other... when a family hits that illusive brink of ongoing serious health deterioration, the stress is unforgiving. And unfortunately, I remember it all too well. It was a very terrible time. And I still have problems talking about some parts for fear I will burst into tears.

As a parent, it is horrible to not know how to fix things, or figure out how to better help doctors with the info/clues they need. They may have many patients with many differing issues to worry about, but you only have one (family). Yours. And I remember trying to be as meticulous as we were asked to be, and as logical and knowledgeable as possible. So much time was spent on reflection (past health history/trends), trying new approaches and procedures/testing. We all wanted the chaos (and later danger) over with -and- a resolution as soon as possible.

I'm pretty sure my husband and I read the internet... all of it As once things really got out of hand, we searched for anything to help understand the clues we had, but not yet understood. What you don't know, you just don't know... or know to look for. Clues lead to understanding patterns, which aid specialists in understanding the chaos within the system. Sometimes if one is lucky, the answers come quickly, others... it goes the distance.

Additionally, things are always harder to understand in chaos. Too many variables at that point -and- almost like a chain reaction of issues, a domino effect starts happening. But unfortunately, that's usually when serious investigation usually starts.

Trying to keep up with the info we were being told, and understanding it enough to help put pieces of the puzzle together was hard. The learning curve -and at such a bad time- was intense. And all while having an ill and frail child. Awful.

Researching only got us so far. It wasn't until my family found this site that the weight of the world started lifting. There is only so much medical jargon a person can read and absorb. But to find "life" experiences and information, like in here, was a miracle. We knew that our son had some serious link to fructose. Yes he was positive with FM, but blood tests in metabolic challenges were saying something else was also going on. Oh so many tests...DNA and other.

Even though we are not diagnosed with anything conclusive yet, we have been told to say that our son is "suspected of a metabolic disorder" if ever in need of medical service. You could drive a truck through that general term. So then we must add his history with testing and FBPase possibilty (and mention all his lovely specialists).

Specialists have years of intense medical education. We don't. And evenso, things sometimes take time to figure out. Time (at one point) we were becoming concerned we no longer had the unlimited luxury of. Terribly terribly vulnerable place to be in. And a parent, in trying to stay strong, will take on all the stress of that family's world -without- the ability or specialized medical education to resolve it. The worst stress is one you are not in control over. And the worst on your heart is easing an ill child's (valid) concerns and seeing things clearly with the eyes of an adult. The pain and concern in a frail/ill child's eyes is something... But as a parent, you need to stay strong and comforting. It's hard.

We watched a lot of movies on the couch those times. And cuddled. That's important.

So, Angela... I understand. I think (regardless of specific issues) anyone ever in a serious situation, understands. Honey, how could you not feel alone or vulnerable... it's not like many even know what fructose is, let alone anything perhaps metabolically attatched to it. Or are able to help/understand in the way you need...

That's why this forum is so special. To the outside world you are unique. Here, you are understood -and- can actually ask questions and get support. Perhaps there are serious differences in varying metabolic fructose issues, but at least here there is a collective abundance of knowledge and clue hunting. And empathy.

These are the people who draw on their experience and knowledge. I have seen them go the distance to research/document for themselves and others. They have conversations and they banter. Everything said or documented is valuable. Perhaps if not for today, then maybe tomorrow. And if not for one, then maybe for another in the future. But there is serious value in here. I would never have been able to google to this extent, or felt the comfort of not being alone. It's also the platform that gives me ideas to further research and consult with our specialists...

That being said, you are in good company here. For as long as it is of use, you will find you will read. The simple fact that you found this site, read, and have returned.. means you belong.

Yes, this is an HFI site and I try to be as respectful as possible. But there is not too many places you can turn to. With people. Who else locally (other than busy medical professionals) understand anything metabolic -let alone- involving fructose? Truth is, you don't always have the time to ask your doctors everything. So this forum helps me collect questions or verify details. And if nothing but a side glimpse of things (as your family may have to still alter diet more), at least these are people. Real people. And not just statistics documented in scary medical research. They have good days. Bad days. Healthy... or temporarily, not. But here, everything is normal. Just variations of it... and in it's path to healing.

Long ago, I remember once looking around and listening to parents idle chit chat about all their frivolous issues. Hair, manicures, spa days, troubles with the housekeepers, nannies, date nites/functions with their spouses, behaviour of their children etc... And all I could think was "WTH?!!!!...seriously? This is your parenting stress?" Our life was different. Every waking energy went to raising healthy, wonderful, happy, smart kids... and our private thoughts surrounded the medical. Always something medical.

We've had quite the ride. A wonderful life full of much happiness and love, but also a few tricky times with health to keep us on our toes. Those are the ones that make you appreciate everything that much more. And teach you to not sweat the small stuff. Serious and down to business when needed, relaxed and fun loving when not.

We are finally in a good place -longterm-
I can finally sleep.

We need to get you to this better side.
Message me anytime.
If for nothing else, and I have been told I'm a good listener.

Lucky

[angelad]

Hello,

First, thanks to everyone for your encouraging words.

I did update my profile with some diagnosis and location information.

Colormist (Laura?)...to answer your questions, my husband and I didn't manage very well. We both had issues as kids that could be attributed to hypoglycemia. My husband was a VERY "sleepy baby," fell asleep constantly during the day, and no stamina for exercise. He did wrestle and play baseball and was quite nicely proportioned, though. He had trouble with running and endurance sports...still does. He also had irritability and impulse issues. I was actually diagnosed with hypoglycemia high school and just told to eat frequently. As a child, I had tummy aches, leg pains, weak spells, vision changes, headaches, dark eye circles, always hungry and overweight, NO tolerance for excercise at all, anxiety and panic attacks, insomnia, nightmares, bed-wetting, daytime wetting accidents until age 10. We got married young (19 and 20) and finished college together. We lived on soda, coffee, and Tylenol. Neither one of us were big fruit or veggie eaters, which probably helped. Our health problems accelerated over the years to include joint problems, muscle cramps, severe insomnia, chronic fatigue, etc. ad nauseum. Our first child was born six years after we got married and she literally never slept, only cried 24 hours a day. No one knew what was wrong. I was a human pacifier for two years, nursing my kids literally around the clock, as that was the only thing that helped. Formula was a disaster. That was true for the next two as well. Our doctor told me that nursing them like that may have actually saved their lives or prevented more emergency room visits than we had. The stress of dealing with the children's crying, not sleeping, and later learning and behavior issues has literally put me in the hospital a few times. My adrenal glands are toast - I have to take hydrocortisone every day because they no longer function. This is probably a genetic predisposition, because my whole endocrine system is a train wreck. I take replacement hormones for almost everything. Not knowing to address my (previously unknown) fructose issues probably didn't help.

Yes, it is crazy that all of us are affected. The DNA results show multiple homozygous mutations for all of us. Even though my husband hasn't been tested yet, it means he has to be at least heterozygous for all of them, too. Woo hoo! We won the genetic lottery on this one.

Lucky, your comments were invaluable and so very encouraging. Based on one of your earlier posts, I did some more digging and I think I finally understand the intersection of the glycogen storage issue and FBPase. I get it! I know why we have to eat every 2 1/2 hours. I didn't realize FBPase is part of the pathway necessary to break down glycogen...I thought the whole process of glycogen to glucose was a separate enzyme pathway. Somehow, figuring that out makes me feel so much better. I can rest knowing that, yes, we have to eat this way. No, I'm not crazy.

Another thought I had after reading your post is that some of the recommendations by doctors (like the fructose amounts for FBPase deficiency) may keep you out of the hospital, but not guarantee a high quality of life. I can eat a candy bar and compensate for it with more dextrose and pain pills, but I will still feel miserable. It's not worth it...not to mention the long-term implications of low-level hypoglycemia stress on the body.

Now my challenge is how to get all the nutrients my kids need into them, while nearly half their caloric intake is coming from corn starch. We don't tolerate supplements very well. Even the most pure supplements at RDA levels cause headaches and insomnia for everyone. I'm hoping Dr. Weinstein can direct us to a good metabolic dietician to help with this.

For anyone who is interested, here is a link to my previous posts: hfiinfo.proboards.com/index.cgi?action=userrecentposts&user=angelad

Looking back at them, the post about the olive oil in the fried chicken I made makes me want to laugh...There is no way my kids can tolerate that much protein or fat at one time.

We have come so far, and I've got faith that it will get better. Thanks again to everyone here. It's been a blessing to read everyone's comments. I apologize for being so long-winded and will remember in future posts that I am probably dealing with something a little different than most in the forum.

Bless you all,

Angela

[angelad]

I have some questions for Lucky regarding FBPase.

We've been really struggling with the amount of fructose that is supposed to be tolerated for people with FBPase deficiency. We are going back to strictly no veggies for a few days to see if that helps.

Today I made gluten free noodles for lunch. Usually, I use white rice noodles, but today I tried some made with corn. Within an hour, everyone was going berserk or laying in the bed moaning with dizziness and stomach pain. I checked everyone's blood sugar - right at 80 for everyone. This is obviously not hypoglycemic levels, but they kept falling until we started giving dextrose. Long story - the corn noodles had too much fructose. Normally, the same meal with rice noodles has us to at least around 100 to 110 an hour after a meal - I've kept enough diet logs to say that with certainty.

So, my questions for you are mostly about diet---what does your son eat?? With the protein and fat restrictions, it is very difficult. And the frequency....every 2 hours or so. We are so tired of pretzels and crackers we could just scream.

Also, it sounds like your doctor has a good handle on the fructose issues. Can you share your doctor's name and location? At this point, I am willing to travel to find someone who can review our records and make some recommendations.

We have the genetics that show mutations on FBPase, but they are assumed to be benign, or at least not proven deleterious. We have in-hospital testing and ER visits that show lab values outside the norm and blood sugar crashes to the 30's, and other lab tests that show abnormalities. The doctors have always said, well, it's not that far outside normal, or maybe they were just sick that day, or xyz......Basically, my kids have not ever had much in the way of fruit or veggies since they were babies because we knew it gave them bowel trouble, sleep issues, and made them terribly fussy. They nursed around the clock until they were two. We assumed it to be some sort of intolerance or bowel issue. They have NEVER had a glass of soda or a red lollipop or anything like that because we knew they couldn't tolerate it. So, they've never been rushed to the ER in a coma. The specialists we've seen have not given consideration to our chronic health issues, quality of life and what it takes to keep the hypoglycemia at bay.

Our family doctor is wonderful. She is convinced it is FBPase deficiency and is treating us as such, but because she is not a specialist, her dx is "reactive/fasting/ketotic hypoglycemia." I am almost tempted to give my kids a soda and take them in to the ER repeatedly, but she says no, we don't have anything to prove and we shouldn't put the kids or ourselves through that.

We will see her next week and will get testing through Spectracell which tests for fructose tolerance in lymphocytes. A problem there can be indicative of FBPase deficiency...if we can't find a way to manage this diet without corn starch and eating rice every two hours, we may try to find someone else who can help us.

I tried to email you, but your email is "hidden." I changed my profile so that my email is public, so you can email me personally if you prefer.

If anyone else has thoughts, I'd be glad to hear them.

Angela

[lucky]

Hello Angelad,

Thank you for your note...

I'm not sure if you're aware, but as a member, it is possible to communicate publicly (as in here) and also privately (by private message). I just left you a note so you can see where it's displayed, and with some of the info you requested. Now we can start corresponding using either avenues.

Just sign in and you will see a message waiting from me...

All the best,
Lucky.

[angelad]

Ah....got it on the messages! Thank you. My kids probably could have told me that!

Angela

[charlie]

Today I made gluten free noodles for lunch. Usually, I use white rice noodles, but today I tried some made with corn. Within an hour, everyone was going berserk or laying in the bed moaning with dizziness and stomach pain


Ahhhh, The Noodle Effect................... Megan has this, I can time it to exactly 30 minutes after having noodles (or semolina pudding is the other one.). And I use unflavoured noodles. The only ones that don't do it are the stringy rice noodles we can get sometimes. She goes off her rocker, as if she is drunk for about an hour and a half, then she plummets. I keep chickening out of giving her noodles for school lunch one day as the school don't believe me she can get ADHD symptoms from certain foods. I just don't think I could put Meg through the aftereffects of her behaviour. The conversations become very toilet humour........... if you get my drift.................

[angelad]

Hi, Charlie,

If you can find them where you are, EnerG and Tinkyada both make some WHITE rice noodles. Tinkyada has spaghetti noodles, EnerG has spahetti, lasagna, and shell noodles. You have to read the package, though. They also have some brown rice varieties, which we absolutely can't do - anything with brown rice is a disaster.

If shipping weren't so expensive, I'd send you some! My son lives on the shell noodles, even for breakfast sometimes.

Angela

[lucky]

Hi Angela,

I know you will be seeing your doctor later this week, so I'm going to bombard you with info just in case anything proves useful...

I had a thought. I know that your family is heavily suspected for FBPase deficiency. And rightfully so. But I question if the reason for hesitation of diagnosis is because things don't completely "fit" perfectly. This is similar to us. So, in our case, because there was a serious long term situation, but no real conclusive answer... our specialists felt the need to look into anything metabolically connected to fructose. In effect, a process of exclusion to gain tangible data.

*Do you have support from a Hospital (Genetic, Gastro) team?
*Do you have support from a Metabolic dietitian?
*Has your son/family had any of the below tests done?
*Was your family tested for celiac?
*Was your family tested for lactose intolerance?
*Have your specialists tried ruling out any other metabolic issues connected to fructose?

I'm specifically referring to the more "unique" ones involving carbohydrate intolerance.

But before that, our son first had tests like these...

LOTS of blood tests for anything and everything...

1.. Hydrogen breath test: Lactose
2.. Hydrogen breath test: Fructose (I no longer recommend)
3.. Hydrogen breath test: Glucose (for SIBO)
4.. Celiac blood test
5.. EKG
6.. EEG

note:
First attempt at fructose hydrogen breath test at 7yrs old: projectile vomited within a matter of minutes. Was left sweaty, ill, and spent. Days later, rescheduled for a second attempt. Bad idea. We were not warned of issues such as HFI / FBPase deficiency potential. Went hypoglycemic (semi conscious) with less than half the testing solution. Referred to Genetics afterward.

Then, the fancier ones...

7....DNA: HFI .. sent out of country
8... DNA: FBPase deficiency.. sent to Sheffield, England
9... Fasting test
10. Fructose Challenge test
11. Protein Tolerance test
12. Muscle biopsy
13. blood test for GSD

Oh, and a few full liver panels, as we were told our son's liver was "unhappy" at one point... whatever that means...

The last grouping (7-11) were done through Genetics/Metabolics. And 12-13 through the Mitochondrial dept. Gastro was involved through out. And also kept tabs on ALL vitamin counts (including C, D, B12? and iron) to make sure deficiencies were not compounding the situation.

The remaining specialized tests were done to rule out/expose fructose/metabolic issues using a different methods and are less invasive than a liver biopsy. It's a process of exclusion, I'm afraid.

There are still two that we may still need to have done.

1.. Glucose tolerance test (for rare metabolic disorders)
2.. CSID (also known as Sucrose -sugar- Intolerance)

Angela, while I compile more info for you...

*Have a look at CSID in particular for your family*

CSID :: csidcares.org

Does some of it look familiar to some of your symptoms? If not, then consider what happened in our family.

When my son was as severe as you guys, he worked himself down to an almost starvation diet. Everything hurt to eat, and we were having problems controlling his blood sugar and the intervals he needed to eat. At some point, he got so out of balance that he had 2 seizures (grand mal). He was hospitalized on the last one (to stabilize and monitor) and later got full EKG and EEG testing. Both were negative, and neither is an issue now. But everything was part of a puzzle back then.

They still think it was blood sugar related, but we were also told that his carbs may have gotten too low and needed increasing. So we did. In addition, they now also concede that our son may have had an electrolyte imbalance also. This can also cause a seizure.

*Look into dangers of dehydration and electrolyte imbalance*

It is an eye opener. Among other things dangerous, electrolyte imbalance affects the production of "chime". Chime is needed for proper digestion. Without it working properly everything will be excruciating to digest (and then diet will restrict to compensate). And digestion (and colon) completely relies on proper hydration. And so does the body's ability to control blood sugar levels.

Like your family, our son looked like protein was a problem for him at one point. This is why his specialists threw in a Protein Tolerance test to exclude. Back then (before iv correction), eating it also caused his body to have blood sugar issues. It seemed that his body was just too taxed at the time... and desperately needed iv re-balancing. Now, he is fine. No issues with regular amounts.

So... everything works in balance. Without proper hydration/electrolyte balance, things start to deteriorate. And then serious issues get mixed and compound. Metabolic issues arise. And then it is the task of the specialists to decipher the chaos and figure out what is genetic vs what is just horribly messed up.

Turns out, it wasn't until our son had to go in for the heavy duty testing above (#9-11..that required all day protective iv's) that he accidentally "corrected." I don't think anyone expected it. And it was only then... that we saw permanent progress. Before that, he fell off of being able to handle the HFI diet. And we couldn't figure out why. So things were confusing to everyone.

There were 3 or 4 times our son has had an iv in his life. But the difference was, that until this last time, we were unaware of the extent of his fructose issues. So this latest one "stuck" in correcting him long term. This, in conjunction with the HFI diet... and in intervals... now works for us.

Our son is now 11yrs old so age (and liver size) is working for him now. During the day he eats every 3hrs (sooner if exercise involved). And at night he is able to sleep throughout (till 6am) without issue or sweating. I know he is ill (or fructose reacting) if in addition to other things, he sweats (or gets clammy) or has jerking motions in his sleep. And when ill, he will generally wake up early (5am) and want to eat. But I'll be honest, I watch him when he's ill.

And one of the greatest gifts of all... he sleeps.

Till the age of seven, he never slept the night. Full blown sweat and trance nightmares from an early childhood on. He was hypoglycemic and no doctor ever picked up on it. But after his FM diagnosis and then HFI diet (because of his reaction), everything bad stopped. It was the beginning of him sleeping the night. And NO sweating.

Nowadays it is because of our son's liver size (and diet) helping him to hold onto more stored energy (so he can make it through the night), but I don't care what the reason. He was healthier, and could sleep peacefully. Which made him (and us) all healthier and happier.

I'm here to tell you, you need sleep. REALLY.

And our son has no need for any medication other than vitamin C and D. If he stays balanced and generally healthy, he's good.

Why? I don't know...

But I'll take whatever luck that comes our way. And will the HFI diet be forever? Perhaps. Or not. It all depends on how his body heals long term. And we will continue with caution till we are no longer afraid... or we get a diagnosis on something.

Until then, we are careful. We don't use dextrose to balance blood sugar. We try and feed our son foods that help keep his blood sugar as even as possible, and not spike. Why? because yo-yoing is hard to stabilize and we simply don't understand why he has a tendency to slide into trouble with health.

Perhaps this only now happens when he is ill. We have seen some glimpses of wiggle room in diet, but are concerned why, and in what combinations it is safe. Soooo it is tricky.

Leeway for anything other is difficult to asses at this point consistently. But since the last iv balancing, life is easier. Our son's blood sugar re-balanced and eating intervals lengthened. Today, he is as healthy and as vibrant as his classmates. Just eats differently. And interestingly, none of his friends care. It's not a big deal to them that he has a different diet or timeline.

Truthfully, we don't know what we have. And even if we had a diagnosis, there is variation in severity within almost any issue. Sometimes it's because of something like available enzyme activity. Perhaps sometimes it is also dependent on how damaged (toxic) the system is today and how well it can heal over time. And because so, everything is a balancing act and today's advice may differ from tomorrow's needs.

Hope some of this helps,

Lucky

[ukbill]

Lucky not wishing confuse discussion as this information is excellent and has got me thinking very deeply and remembering.

I am confirmed HFI via the challenge test.

Before I was cooking full time again for myself (last year or two of my marriage) I was getting really bad night sweats! I mean really bad to the extent of having to change the sheets twice in one night because they were ringing wet.

I also was suffering from jerky uncontrolled movements in my legs also, while trying to sleep.

I had these for two or more years before I started cooking for myself (the food my ex was cooking was not HFI safe at all) and from then things have improved.

I cannot remember the last time I have had sweats and leg problems at night.. I think I can remember once in the last 7 years or so. But not anywhere near as bad as before.

I also have to keep fully hydrated otherwise I go Hypo this has always been the same particularly when exercising and on long hill / mountain walks.

I did not have night sweats or problems with my legs when I was a child only as an adult.

Hope this helps

Has anyone else with Confirmed HFI had this?