My wife's symptoms, please help

[charlie]

Hi Roman,

welcome to you and your wife to the board, I missed all this activity as needed an early night!!!!

I am going to re-iterate though what Tammy has posted, you must get proper medical diagnosis, especially if your wife is passing out. We can give you ideas from our personal experience but that is all. It is very important to rule out other things that may be causing it medically of which there are many before HFI comes onto the list. You may already have done that so please excuse me if I am just pointing out the obvious but it is important to make it clear before you get too bogged down the wrong path.

First major question is have they checked for diabetes as this can kick in at any time and if she is reacting to dextrose and carbo in general this is the most obvious. Also it can be sub-level for a long time then exacerbated and shows up in pregnancy when the system is under stress.

Also needs excluding are anemia and thyroid problems.

As I said, you may have already have done this, and as your wife is (I assume) an adult then doing a fructose elimination short term herself would do no harm and is a way of finding out if it helps but keep an eye on other options.

It is very easy to suddenly find something on the internet that makes sense and you think you have found the answer and start ticking boxes...... until you find something else that makes sense..... and then you tick those boxes. I am just as guilty of doing that with my daughter. We have alot of new, very lovely people on the board at the moment but most of them are currently undiagnosed but life is making sense to them now, I just hope it is the right answer.......

That said, very welcome to the board, we will do what we can to help. But just to re-iterate do seek proper medical advice to eliminate the obvious too.

[roman]

colormist: thanks for the rice info, we will keep that option open. I am also thinking of using a pure starch, such as arrowroot, and combine it with whey powder to make a protein-starch cake, a la arrowroot cake. I think there is a Japanese dish like that. My wife, her name is Helena, did urinate a lot and was thirsty after her last reaction. I think it's a way to excrete ketones from the body due to acidosis brought on by hypoglycemia. She did not have to wake up last night to go. This morning she was happy and not hypoglycemic at all - she had sour cream (this is made with enzymes, not by fermentation) with some chia seeds mixed in for sustained release of carbs.

charlie: I do understand your caution and (I think) I am aware of the pitfall of finding something on the internet that fits. However, she is not diabetic, because her bloodwork just a few weeks ago had her fasting glucose level at 83 mg/dl, which is very normal. Her thyroid stimulating hormone was at 1.53 micro-IU/dl, which is very good, so she is not hypothyroidic at all. We are seeing a geneticist in San Diego this Friday, her primary gave her a referral. In the meantime, she is following a fructose-free diet of eggs, meat, fish, animal fat, and non-fermented dairy products. She feels great today. We will pull through.

[esmee]

Roman, you also asked about others having trouble with low-carb. Yes, I definitely have trouble with low carb. It seems to cause really bad POTS/POHS (postural orthostatic tachycardia/hypotension syndrome) for me. I believe that carbohydrates keep me more hydrated and this keeps my blood volume higher, and the higher blood volume prevents the POTS/POHS from occuring. I also get VERY depressed on low carb.

Thank you for reposting the link to the journal article on FBPase deficiency.

It is ironic how your wife has manage to get by in life by eating a mostly starch-based diet until you adopted a paleo diet and added fruit back in. I had avoided fruit for years until I recently decided to try being a fruitarian and found out just how horrible fruit made me feel. It is a long story, but if I had not tried this ridiculous experiment I probably would not have made the connection between my ill health and fructose. So, in the end, it turned out to be a very good thing.

Congratulations on getting off your SSRI. That is not an easy thing to do! I recently helped a friend do this also. The doctors put him on it for pain (he was in a terrible construction accident 15 years ago and busted his leg and back pretty good), not mental issues. But everytime he ran low on the meds he would start rationing them (taking less) while waiting for comp to approve his next refill and occassionally he ran out completely, and he would have a mental break down, literally. So, he finally decided to just come the stuff completely. He has only been completely off of it for about 6 months. He is still experiencing withdrawals from the stuff (brain shocks and mild paranoia). How long did a take you before you felt like your brain was back to normal?

[roman]

Thanks esmee, Helena does have low blood pressure (80/60), but she has had it all her life, except during pregnancy when she was fine. She did eat a lot of bread and beans during pregnancy, so she did not crash, and during delivery she refused an IV. She delivered without drugs and it may well saved her life, and our son's life. Who knows what the doctors would do if she suddenly went into hypoglycemic shock. She is no stranger to pain, thanks to her life-long troubles, and it probably also helped her during delivery. She does not talk about birthing as painful at all, even though her labor lasted many hours. Our son is not fructose sensitive. She has PCOS and had a hard time getting pregnant - anyone here has PCOS? Damn, this board should have a "search" function.

Paleo diet made me feel great. I had (have) so much energy that it was easy to survive the brain zaps (yes I had them for a month or so). I had been on SSRI (lexapro) non-stop since 2001. I lost 35 lb in 6 months on the diet, my triglycerides went from 200 to 53, and my HDL went up from 36 to 52, all without exercise. I think the diet also freed me from the mental fog I had while on lexapro, which allowed me to deal with Helena's issues. She was suffering a lot in the past 6 years, after her gallbladder surgery when they (I am sure but can't prove this!) gave her a morphine drip post op with sorbitol in it as an "inactive" ingredient. She was in so much pain (despite the morphine) that she took out the needle from the catheter and asked for oral pain meds, which finally worked. She probably saved her life then. So to answer your question, my brain got normal on the Paleo diet while I was on SSRI, and I felt I had to titre down the dosage or I was going to get hypomanic or something, so I gradually tapered it off (with an OK from my doc) and now I have been drug free for about 3 months, still feeling great. I don't have the brain zaps anymore, but lexapro is a once a day deal, which is easier to get off of than, say, Paxil that is twice a day. Enough of that.

Oh, and I should point out, there is an unexplained infant death in her family, her mother's brother died when he was 2 months old, and I think her mother also has the symptoms, but she does not listen. Anyone out there have an unexplained infant death in the family?

[sarosh]

Roman, There have been many unexplained infant deaths in my family but most were attributed to poor medical conditions in india at that time, but now I wonder what it could have been? My maternal grandmother had 16 children; 8 of them died between the ages of 1 and 2 ( my mother who was the eldest remembered all this) .This was a consanguinous marriage. My paternal grandmother who had three children lost two - my father was the only child who survived. My father who was a doctor often told me that it was a miracle that I survived liver cirrhosis at age 1. My mother suffered hypoglycemia and died three yrs ago of hyponatremia ( unexplained cause) and I have several relatives on my mother's side who have unexplained medical issues. However,I am the only one in three generations who has full blown symptoms of HFI and severe aversion to sweet tasting food.
About polycystic ovaries - my daugter has polycystic ovaries and most female relatives , including myself have problems related to unopposed estrogen.
There was another thought that came to mind- the 20% who test negative for HFI on Tolan's test but have the symptoms may be FDpase deficient???

[esmee]

Roman,

When I first found this board, I literally went through every post un the "adult" and "miscellaneous" section. Unfortunately, many of the discussions turn out to have absolutely nothing to do with the "topic" as described. Here is a recent discussion where ukbill talks about losing his 6 month old son to SIDS and very nearly losing his daughter:
hfiinfo.proboards.com/index.cgi?board=misc&action=display&thread=1109&page=1
It is a long thread and I think the discussion on infant death starts on page 2 or 3.

Here is another discussion where several of us ladies compared notes on menstrual problems:
hfiinfo.proboards.com/index.cgi?board=DiscussissueswithAdultswithHFI&action=display&thread=907

Just for the record, my blood pressure runs 85/58 and has all my adult life. But the orthostatic hypotension/tachycardia occurs only if my carbs are too low, or when I eat fat, like if I add butter to rice for instance.

It is interesting that your wife had her gall bladder removed. I have had trouble with fats for years, but ultrasound showed no stones and nothing else wrong. The gall bladder surgeon told me that my symptoms were not typical of gall bladder problems. But when I eat fats I get a a mucusy gloppy feeling in my throat and esophogus, my right eye becomes bloodshot which I believe is an indication of vascular inflammation extending up from the liver, and my digestion gets really messed up. I had a bad parasite infection that went undiagnosed for many years, but getting rid of them did not improve anything. SO, perhaps they did some kind of permanent damage. OR, is it possible that chronic ingestion of fructose by someone who is unable to metabolise fructose properly could, over many years, cause damage to the vascular system of the liver or fatty acid metabolic pathways??? This is one reason I REALLY want to know if I am missing aldolase B or another fructose enzyme.

I agree that this board is not the most user friendly. I was actually thinking that a Ning community would be a lot better, but they are no longer free and cost about $30 a month now.

[charlie]

Esmee,

I beg to differ, I think there may be a post missing somewhere here but this has to be the best format I have come across for a forum. I have joined several others and very quickly left them as I have found them very hard to follow. so much so that that is exactly why I pinched Chucks excellent format for the FM board.

yes, it does go off topic sometimes, but sometimes conversations end up going that way naturally, in fact the first you quoted seems to have gone astray at about your post!!! But it is the only format I have come across where you can easily follow a conversation at the click of a button. But do feel free to go Ning if you want to.

It has gone slightly into overdrive lately as we suddenly had a huge influx of interest all adding their 2 cents worth but maybe at this point I could just point out - as politely as I can- (and this is not personally at anyone,) that it isn't necessary to have the last word on every single subject and then maybe there won't be as many somewhat irritating new posts to troll through when you log in, it runs the risk of losing important information. Just post relevant stuff and try to stay as on topic as you can.

SO GOING BACK TO TOPIC, Roman, that is great your wife has excluded things already, sorry if it was stating the obvious but I did feel it had to be pointed out just in case as you never know. Good luck with the fructose free diet. As has been said a million times now, do start as thoroughly as you can, watch out for hidden fructose in food and keep it simple for now, to be honest it needs to be for a good few months before trying to reintroduce anything. But she should find a big improvement fairly quickly if it is fructose related.

Keep us posted, and do feel free to ask anything you need to know, we are all friendly, honest and will do whatever we can to help from our own experiences.

[esmee]

charlie,

Obviously, i would not start a Ning community for HFI unless others thought it was a good option, too, as there would not be much point in having a Ning community all to myself, lol! BTW, I must really be annoying you with all my comments, as you seem pretty ready to send me on my way, haha! Sorry if that is the case (I don't take it personal). I do not intentionally feel the need to have the last word on everything, but I do sometimes feel it is polite to thank someone for their reply if they are answering a question I asked them.

One thing I like about Ning is that you get notified by email whenever there has been a new post added to a discussion you are participating in, and to show what the new post says. That is extremely convenient. It saves a lot of time, as many discussions can be followed through email rather than having to go to the forum itself unless you actually want ot post a new reply yourself. Perhaps there is a way to do that with proboard also, but Chuck has not activated it. Maybe you know since you started the proboard for FM. Is that possible?

I really have no problem with discussions going off topic, that happens on every forum and I don't think it can be helped, but it does make it difficult to find (or remember where you found) something you want to look up or share without a search option.

Blessings, Esmée

[charlie]

Having things delivered to my email would personally drive me up the wall. I used to have that with other boards and it completely clogged up my inbox so I ended opting out.

Do you use the NEW TOPICS in the the top toolbar when you look up posts, that is what makes this format so great. Just click on there, it brings up all newly posted on topics since you last logged on, and that is what has been making me groan for a while, as I press on there, it brings up 20 new topics with posts on and half of those just say thank you, so it gets tedious. We are all very polite (Well, maybe not me at the moment, I'm stressed, tired and frustrated so getting grumpy, therefore say what I think!!!! ) so take gratitude for information as read. but when you click 10 times and get the same thing you risk going and getting a life and log off and potentially risk missing important facts. Much as I love you lot, I only want to talk to you when I feel like it, having you invade my inbox would be just too much!!!!

Yours truly grumpy

Charlie

[roman]

Dear friends, Helena was seen by a rare disease specialist today, Dr. Nunes in San Diego. He is the real deal. He spent about 100 minutes questioning her and recording her family history. He also saw a video of her symptoms and resolution by glucose administration - I took the video when she had her last "episode" after eating an almond-based protein bar with dried apples in it (I know, I know...). His conclusion was "Actually, an HFI diagnosis is NOT out of the question" - emphasis his. He wants to keep Helena on a strict fructose-free diet for 2 months, and if she remains symptom-free (as she has been for a few great days recently), he will send her DNA to Dr. Tolan's lab. He did not mention FBPase deficiency as a possible answer, I think because FBPase deficiency is even rarer that HFI. He does think that an "abdominal migraine" headache, aka "migraine equivalent" might be the culprit. I do not think so, but I agree with his generally conservative approach. He never once suggested the fructose tolerance test (yes!). All in all, this is a really good first step. In the meantime, she is eating fructose free. That means meat, fish, eggs, dairy products, animal fat. I know that some of you do not have so many choices for your diet, and I sympathise. She has had three pain-free days already. Her energy is great, she is happier than she'd been in a great while. I will report again in about 2 months. Thank you all in the meantime!

[tikitavi]

All of that sounds really good, Roman! I am glad to hear that she is having no fructose now! I think that will really make a huge difference! I know you are trying to stay Paleo (grain-free), but it might help to follow more of the "Perfect Health Diet" and include some safe grains, such as small amounts of white rice, or white flour if she can handle the wheat. Here is their website if you haven't already seen it: perfecthealthdiet.com/. Ignore their recommendations for fruits and veggies, and nuts/seeds, of course.

The reason I suggest including some small amounts of "safe" grains is for one, it will save you money to have a little "filler", but also it seemed to help me to maintain my weight. I just have around 100g-120g carbs per day. Before that I was doing what you are doing, just having meat and fats, and I was losing a lot of weight. Also that 100g carbs per day really seemed to help me stay focused and not feel foggy and sick.

Just a suggestion though! I am not officially diagnosed as HFI, so I defer to the experts here.

[roman]

@titikavi, thank you for your suggestion, and you are right, if maintaining weight were a problem, I would be the first to recommend including rice (not wheat, because it is neuroactive, unless she could not eat rice). However, right now, she is enjoying losing some weight, she actually lost 3 lb in 3 days (not kidding) to frequent urination - I know what you are thinking! No, she is not getting dehydrated, in fact she is drinking a lot, it's just that being fructose-free makes her go a lot and she is apparently losing retained water, and "puffiness" with it! She is not thin, in fact she is 140 lb at 5'5'' of height and she looks very healthy. She loves her diet now, you know how it is when you finally feel great. I would describe her diet as Inuit paleo. She will gradually include greens for phytonutrients, but I don't think she can develop any nutrient deficiency on grass-fed meats for just a few weeks. Have you heard of pemmican? It's dehydrated game meat, powdered, and mixed with bison tallow and made into small balls. People of the West (trackers, Native Americans, and mountain men) back then could be sustained on just that and water alone, with no ill effect.

I also recommend this recipe for added starch and protein, if you can tolerate whey: mix arrowroot starch (zero fructose, per cronometer) and whey powder 3:1, add water, salt, spices of your choice, such as ground caraway seed, make a paste, cook, and let set in fridge. My wife loves this, it's a protein-rich starch cake with lactose in it, no fructose. Make sure the whey powder is not adulterated with fructose.

[charlie]

Hi Roman,

if your wife is HFI you won't want to add greens in at an early stage due to the high fructose content. Spinach some people can tolerate. You are better staying off all fruit and veg for at least 4 months to really clear the system.

You may have already done this though, I'm a bit confused as it sounds like you are well down the diagnostic path but from your first post it sounded like you had only just started thinking about it, maybe in my sleep deprived state at the beginning of the week I got the wrong end of the stick.

[roman]

My first post was a little confused, mostly by Dr. Tolan's lists that allow some veggies, etc. It seems, even to me, that a week ago was such a long time ago! Now I know better, but I was thinking that since Esmee can tolerate spinach, my wife will try them too. However, not for a good while, at least not for the next two weeks. We have gone a long way toward understanding what's tolerable and what is not, but obviously we are still learning. Learning fast, however! Thanks, your comment is much appreciated. We will stay away from all greens for a good while.

She is doing WONDERFULLY on a fructose-free diet. No pain, no headaches, she even stopped taking ibuprophen for "pain" that she depended on for years.

[charlie]

Hi Roman,

it is very confusing I agree. All the countries seem to have different lists of allowed foods but the best policy and for the most accurate answer is to eliminate as much fructose as possible. That means all fruit and veg, short term this will not cause an adult serious deficiency. Also all sugars and sweeteners like sorbitol, saccharin etc etc. I can you email you the British list we were given if you private message me your email address if that will help.

Please note: Esmee, Tikitavi and Gretchen (as they do state in some of their posts), whilst very new keen members are NOT diagnosed at present so please don't use their tolerances as OK. Colormist, Tammy, Bill, Fred and Julienc are your best guides.

I am really glad to hear your wife is feeling better through starting the diet, has she been tested for SIBO ie bacterial infection as this can sometimes be a red herring with sugar related problems too and maybe also needs excluding. There is nothing worse and draining than chronic pain and discomfort especially malabsorption problems as it is so draining on a daily basis.

Good luck

[esmee]

I want to second what charlie says here about tolerance levels. tikitavi seems to be unable tolerate any fructose at all without experience some negative reaction. spinach is definitely not on her menu. and even though i am eating spinach at present, and i feel more or less okay, i cannot say that i feel fantastic. it is just that i feel less bad eating this than i felt eating other foods much higher in fructose. unfortunately, as you know, i react negatively to more than just fructose, so i do not have as many options to chose from as others do in this community. there is very little known about HFI, but there does appear to be a difference in tolerance levels even among those with definitive diagnoses. therefore, the best we can do here is to share our own personal experiences (which is what a forum like this is for) with the understanding that your wife's tolerance for fructose may be more or less restricted than someone elses. from everything you have shared here, your wife may have a very low tolerance. Tolan says it is recommended for people with HFI to stay below 2 gms of fructose a day, but even 200 mg a day is too much for tikitavi and probably others who participate on this board. even the white rice i am eating has 150 mgs of fructose per 100 gms, while the spinach has 120-250 mgs (depending on which database you look at) of fructose per 100 gm. There are no plant foods that are entirely fructose-free. I am definitely getting between 1-2 gms of fructose per day from these two foods. This may turn out to be okay for me, but it is not for tikitavi and it may not be for your wife. So, charlie is correct in that your wife should try to go as low as she possibly can in order to get a baseline.

[roman]

Got it, of course. She is absolutely fructose free now, as she does not eat any plants. She had beef stew with mushrooms today, and did not react to it (other than her usual reaction to glutamate - stiff neck muscles, but no pain like she gets from fructose), but she won't test other vegetables. Don't worry, no matter what happens, we are the only ones responsible for our choices, and I would never blame any one of you for tolerating something Helena cannot tolerate! We are doing very well at present.

I'd suggest getting some yams (real yams, such as these: www.naturesfarmfoods.co.uk/jyam.jpg , not to be confused with sweet potatoes of course) if you get tired of rice - according to all databases, they have only a trace of sucrose/fructose. You can positively get these at a local Ranch 99 Market (seen them) or some hard-core Asian grocery stores in big cities. It grows in Mexico too.

Helena also tolerates arrowroot cake, the recipe above. So I guess arrowroot flour/starch really is fructose-free.

[angelad]

It has been a long time since I posted, but so much has happened. Unfortunately, I don't have a lot of time right now, but thought this might be helpful. My original posts are still on here and will tell how our story started. Basically, we had improvement on a no-fructose, no-sucrose diet, but still had problems. I asked several questions on this board about "tolerated" foods we couldn't tolerate, like olive oil.

We got negative HFI results from Dr. Tolan's lab, then proceeded with a full sequencing through Baylor. Both were negative. I kept internet searching and working with my complementary medicine-minded MD and figured out the low blood sugars and ketones in the urine by testing at home and looking at old blood tests. This applies to all three of my children and my husband. I may have it too, but my situation is complicated by severe hypotituitary issues that require me to take replacement hormones for nearly everything. So I am not a good test subject.

In any case, We next tested for Fructose 1, 6 bisphosphate (FBPase) through Baylor. My son came back with FIVE homozygous mutations. The rest of us will be tested soon. None of the mutations have been "proven" yet to cause symptoms, but I know in my heart this is the problem.

We took my son to the ER for low blood sugar (58, dropped to 38 in the ER) after eating a normal diet HFI diet (no fructose) after a really good endocrinologist said we needed to officially document what we were seeing. Of course, they got the low blood sugar, but also ketones and metabolic acidosis. We stayed in the hospital overnight to get him stabilized.

We are scheduled to see a hypoglycemic specialist at the Children's Hospital of Philadelphia (CHOP) where they have a special unit for hypoglycemia and have doctors who know about genetic issues and things like fatty acid disorders. Our appointment is March 22nd.

Hopefully, they will forego the fasting hypoglycemia test and go straight for the liver biopsy. I think we've established that there is a problem with gluconeogenesis. The liver biopsy is extreme, but we've got to have some answers and this seems to be the next step.

Important note for those who think they have Fructose 1,6 Bisphosphatase Deficiency....You also have to monitor how much fat and protein you take in!!!!!! You have to eat starches frequently to keep the blood sugar up. Dextrose will send you on a wild insulin ride. Also, the type of fat makes a difference. Medium Chain Triglycerides found in coconut oil, butter fat, and ghee will put stress on the enzyme because they are taken straight up the portal vein and are processed through the gluconeogenesis pathway.

Basically, if you have FBPase deficiency, you can only burn glucose and galactose for energy. You can't (or aren't very efficient at) turn fructose, proteins, or fats into glucose. This can happen to HFIers because of a build-up of metabolites when fructose is consumed, but otherwise, it does not present as big a problem as the FBPase deficiency.

I am feeding everyone starches at least every two hours, no dairy fat. We are also gluten free due to Celiac disease. Lots of white rice. Diet is 65% starch, 10% protein, 25% fat.

The literature says those with FBPase deficiency should be able to tolerate more fructose than those with HFI, but we aren't finding that to be true for our family.

I have to run - my kiddos need me. Always happen when I sit down to type. I will post more if there are questions or when we find out more.

Angela

[esmee]

Thank you for posting this information Angela. Really interesting. What fats and proteins can you and your family eat?

You said that detrose was a problem, but you are feeding white rice which I thought was dextrose?

[angelad]

Sorry again for such a short reply - I'm getting kiddos to bed. I meant dextrose in the form of pure dextrose/glucose - like in candy or in a sweet dessert. We tolerate it as a starch in white rice, but even too much white rice at one time will cause an insulin spike, then a plummet. We eat small amounts of food every 1 1/2 -2 hours. That is the only way I can keep the blood sugars in the 80 - 100 range. If we don't eat enough starch or even eat too much protein or fat at one time, the blood sugars drop like a rock within a short period of time (about an hour). Fructose intake causes the same reaction. Our blood glucose numbers very, very rarely ever go over 100 unless I give pure dextrose off the spoon, but will drop into the 50's one hour after a "healthy" meal of chicken, brown rice, and green beans with some butter. Fructose can take a little longer to cause an effect, depending on dose and how it's eaten - i.e. an apple by itself makes my kids sick almost instantly, but zucchini will cause a blood sugar drop a few hours later, even if they've been eating additional carbs in the meantime.

For right now, we are only eating sunflower oil and canola oil. Protein is in the form of lean animal protein (beef, chicken, fish, etc.). I also have to calculate in the protein from grains and potato the kids eat. We were drinking goat milk, but have left that out for now. It is pretty high in the MCTs and we are doing better without it. We will try skim milk soon, but we've had trouble (bloody diahrrea)with cow's milk when the kids were babies, so I will be cautious with it. It's almost impossible to find lowfat/skim goat milk.

Gotta run again,

Angela