Can't figure out what I have

[colormist]

If you had HFI (with what you've been eating) I'm about 90% positive you'd have elevated liver enzymes. Is your urine typically dark in color (not clear or pale yellow)? Does it smell sickly-sweet? Do you still frequently find yourself hypoglycemic (sweating, weak, shaking, nauseated, loss of vision)?

I think most of us here (pre-diagnosis) cannot handle more than a bite of fruit without instantly regretting that decision. I have never been able to eat pineapple or bananas. The taste of bananas always appealed to me, but I was not able to eat them.

Right now, I'm leaning more toward that you might have FM (bowel issues are a big flag for FM), but I'm not a doctor so don't take my word as diagnosis.

You can request the HFI genetic test from your doctor. I think the medical test checks against more varieties than the 23&Me test. Given the foods you eat and enjoy, you might try the low-FODMAP diet. About half of the foods on the low-FODMAP diet are NOT SAFE for people with HFI, so make sure you've ruled HFI out before attempting this diet. The low-FODMAP diet is a way to eliminate certain foods to determine what your intolerances might be.

[colormist]

That FM test is super-scary for people with HFI. I was paranoid that my geneticist would want me to take the fructose challenge test before checking for HFI--which just would not happen. I think I would have clawed everyone's eyes out before I would have permitted fructose in my stomach. The FM test will also give a false positive if you have HFI--so it's not like it rules out HFI, but rather that your results will be "off the charts" in a bad way.

The only thing that makes me think it's not HFI is the fact that your liver levels are fine. Everything else is really similar to HFI. I ate berries and lots of different vegetables right up until I found my diagnosis. I even at the insides of glazed donuts (not the outside, because the outside was too sweet). I'd often try to eat ice cream because I loved butter pecan, but it always made me sick. There are quite a few of us on the board that still have a bit of a sweet tooth.

Have you tried the elimination diet? Basically you eat nothing but chicken (unseasoned, unbrined, no "vegetable/chicken broth" added) and white rice for a bit. Then slowly add in more (fructose-free) stuff.

IF that's too severe for you, I have almost the entire HFI diet posted to my pinterest board here: www.pinterest.com/colormist/fructose-free-diet/
You could try that diet for a couple weeks and see how you feel. Obviously stop eating it if it makes you feel worse.

However, if the HFI diet (or the elimination diet) makes you feel better (and you stop drinking so much water) then you might have a huge piece of your diagnostic puzzle. I would also HIGHLY recommend keeping a food diary (list of all foods, when you at them, and how you felt that day--energy levels, nausea, hypoglycemia, thirst, etc) which your doctor will appreciate when you bring it to him/her for diagnostic assistance!

I don't now much about CSID, but there might be a few people on the forum here that might be able to help you!

[charlie]

Hi, I'm assuming they have tested you for diabetes as a first step with the excessive thirst?

However it can also be the body flushing sugars out of the kidneys. Certainly Meg gets very thirsty when she has had foods that are no good.

Pineapple is confusing if you can have that as that is high sucrose and fructose. Clementines are OK with FM. as the glucose:fructose ratio is even

As Colormist has suggested a full on elimination diet may give you a clear answer trouble is if it is CSID then you need to eliminate starches too. There is a good website www.csidcares.org for some very good information.

[antonia]

Bananafish, your story reminds me a lot of my daughter, now age six. What we know is that she suffers from ketonic hypoglycemia and has shown a natural aversion to concentrated sweets since infancy, which speaks to the HFI piece, but she has also (at times) been able to eat significant quantities of fruit (she also refused apple and watermelon, but ate bananas, pears, berries and mango often) without becoming seriously ill. I did learn early on, however, that she needed to eat fruits and sweets with a full meal, not alone. In particular she needed glucose based starches (oatmeal, rice, bread, pasta) otherwise she would become symptomatic. Before going fructose free, the last time she ended up in the hospital with hypoglycemia was after a high fructose meal that did not include a glucose based starch with it (eggs, bacon and half a kiwi fruit), so we theorize that when there is no glucose to combat the hypoglycemia her symptoms become that much more extreme.

She also drinks a lot of water and because of this her urine is usually very dilute like you describe. HFI can cause both liver and kidney damage. We know her bladder and a kidney duct showed inflammation about a year ago, but since going fructose free her last ultrasound showed that has resolved. Her liver enzymes have only been measured twice and both times they were slightly elevated. The second time they were measured she was totally fructose free, however, so this does not mean much in regards to HFI. The first time they were measured she was eating low fructose but was not totally fructose free. Her liver has never been enlarged, at least not in the past year anyway, which is the first time she had an ultrasound done. So her labs have really given us no direction thus far.

At age three she did take a fructose breath test. She tested positive, no surprise, but the test did not really make her sick which I cannot make sense of if she had HFI. About an hour into the test she became really thirsty and downed a couple bottles of water which had her peeing constantly for the next hour or so. The test ended within an hour and a half (they stopped it early because results were significant early on) so I gave her food right away. Other than thirst I noted no other ill effects. But she was three... who knows how she was really feeling.

This may be far reaching but sometimes I wonder if she could have both FM and HFI. There are a lot of different things that can cause FM, it's not necessarily a permanent condition and can come and go in severity, so this might explain why sometimes she seems more HFI like than others. In theory, if she was malabsorbing fructose that would protect her from HFI complications or severe hypoglycemia. She also reacts very quickly to sorbitol (which I believe breaks down to fructose in the blood stream?), seems more effected by it than fructose alone. Sucrose is suppose to aid in the absorption of fructose, so it would make sense that she reacts to sucrose over fructose. Heavily sucrose sweetened foods will cause her to vomit within an hour of consumption. She has only been able to eat small quantities of lightly sweetened foods (tapioca pudding, low sugar cookies) after a large meal and gotten away with it. Even lightly sweetened foods though would eventually lead to hypoglycemia if she ate them too many days in succession. At the time we did not know it was hypoglycemia making her sick, just thought it was coincidence that she always came down with a "stomach bug" after eating sweets, or too many fruits and/or vegetables, on a regular basis.

You might look in to the sorbitol content of the foods that make you sick. Both apples and watermelon have a lot of sorbitol. A lot of people are intolerant to sorbitol and sorbitol is naturally occurring in many fruits and vegetables. It is also used commercially in many different food products, especially those claiming to be low sugar or sugar free. Sorbitol is also used in non food items like supplements, meds, toothpaste, gums, breath mints and lip balms.

Pineapple and clementines do not have sorbitol but do have a lot of sucrose in addition to fructose; if you're able to eat that much in one sitting without feeling ill at all it doesn't seem like it could be HFI alone or CSID alone. Determining if you in fact suffer from hypoglycemia would also answer a large piece of the puzzle for you. FM alone should not cause hypoglycemia. But FM in combination with CSID will. Like us you might consider you have more than one thing going on?

[antonia]

Bananafish, yes, the first time we realized Palmera suffered from hypoglycemia was when she became ill, coincidentally, after she received several vaccinations. Sometimes she seems to get through illness without hypoglycemia so I do wonder if the vaccines were a trigger.

Do you mean that fats help you with symptoms or just that it makes sweets easier for you to eat? Fat will cut down on the perceived sweetness of a food. It also slows down digestion (as will protein and fiber too). When we believed Palmera had FM that's why I thought she did better eating sweets with a full meal. I thought that by slowing digestion it helped her body absorb the sugar better. For someone with HFI, I would think slowing down digestion might delay symptoms but eventually the fructose will be absorbed and you will feel it, you will need glucose or lactose to counter the hypoglycemia. (I should have mentioned starches are not the only thing that helps counter the hypoglycemia, also milk sugar will, lactose does not contain fructose.)

If you feel that starches make you feel worse I would look more into CSID. There are many different kinds of starch and simple sugars and many enzymes involved in their breakdown. If you have CSID, you could be deficient in only one enzyme or all of them, so thereby, you might be able to digest some sugars and starches or none of them at all. I don't fully rule out CSID for Palmera at this point either. She seems to be fine with starch, but sucrose is a possibility.

I would be surprised if you found any research on the affect of sugar or starch malabsorption on metabolic disorders. So little is understood about both. But, wow, if you do let me know!

[antonia]

And, yes, Palmera has had DNA tests for both HFI and FBPase Deficiency. Both were negative. Only the sequencing portion of these tests were performed though. So we currently have submitted a blood sample to Dr. Tolan's lab to see what the complete test will reveal. I don't hold my breath for a positive result though.

For now, Palmera is so improved on the HFI diet, that is the most important thing. Not having a diagnosis is really difficult though. Especially with school aged children, a confirmed diagnosis is really necessary to make sure she is safe in school and activity settings, without it people don't really take you seriously, so we continue on in our quest.

[colormist]

Good luck on your journey, bananafish! Thank you for keeping us posted.

I also didn't think I had HFI in the beginning. It was too rare. No way did I have that. I liked eating fruit, vegetables, and small amounts of ice cream. But they always made me sick in serving size quantities--vegetables less so because they generally have less fructose than fruits.

I really think the biggest barrier in self-diagnosis is putting aside all the social pressure to "eat healthy" and actually listen to what your body is saying.

Thanks again for keeping us posted on your journey.

[bananafish]

Thanks so much!

[colormist]

These repeated reports of "hypoglycemia but normal-range blood sugar levels" makes me wonder about what the liver is doing with that glucose. Is it just hoarding it? Does that glucose still get reported in a blood sugar reading even though it's being hoarded by the liver?

Both times that I've been in the doctors office with OBVIOUS low blood sugar (to me at least) the doctors said I was within normal levels. And here you're reporting the same (I know you don't have confirmed HFI, but if you do have HFI).

And your story is just sad. Here you are, not feeling well--enough so that your friends notice and urge you to the doctor. You might not have even gone to the doctor if not for your friends being concerned for your well being. Then you get there and they're all like "let's chalk another one up to hysteria!" Ugh. I'm sure them chalking almost every visit up to being a nervous female doesn't really help your nerves when you forcibly drag yourself to there yet again hoping against all hope that they'll actually help you instead of shaming you.

If it's any consolation, each time I've gone to Urgent Care or ER, all they ever tell me to do is drink more water. I drink so much water. It's all I drink. How am I not drinking enough water?? I wonder if it's just the accidental fructose that turns my urine dark that makes them think I'm dehydrated every damned time.

[bananafish]

For your ER visits, I feel sure that they MUST just be testing the wrong thing. Which makes me wonder...

One of the measures they use to diagnose dehydration is the specific gravy of urine. Urine specific gravity can be high for different reasons. One of these reasons is dehydration, but another is the presence of sugars. To test for sugars in the urine, doctors used to use the Clinitest, which tests for reducing substances such as sugars. But this test is not specific. It doesn't tell you what kind of sugar is in the urine, or even if it is a sugar, as the test can be thrown off by other reducing substances such as Vitamin C.

The majority of the time, the doctors are looking for one specific reducing substance - glucose. So once tests specific for glucose were invented, the Clinitest started falling out of favor.

So it might be that when doctors see that your urine specific gravity is high, they check for the presence of sugars. But, likely, the test they use for sugars is specific for glucose. So when they see no glucose, they, by process of elimination, assume that the cause is simple dehydration. But, for you, the sugar showing up in your urine would not be glucose. It would be fructose. Since you have HFI, the doctors should be doing a Clinitest in addition to other tests. In your case, a high specific gravity with a positive Clinitest and a negative glucose test would strongly suggest the presence of fructose.

So next time (actually, since we're talking about you being in the ER, I really truly hope there isn't a next time, but in case there is), you should see if they are doing a Clinitest for reducing substances on top of the specific test for glucose.

EDIT: I read a few case studies and fructose doesn't seem to show up in the urine very often with HFI so even the Clinitest would probably show nothing.

[colormist]

This is mind boggling. I'm not sure how I would feel if presented with the same information (without my diagnosis). I'm glad you still have a good support network, though.

[colormist]

Food diary will not only help you narrow down your triggers, but will also help you when you go to the doctor's office. Hopefully your doctor will be a little bit more cooperative when you're armed with a food diary.

[antonia]

Hi bananafish. I'm sorry I've been away from the board for some time. I see you've made a lot of progress in narrowing down your diagnosis. Bravo to you!

I've not a lot of time still, but wanted to quickly mention to you, in regards to allergies, have you heard of eosinophlic esophagitis or EoE? I believe Palmera may have this (in addition to something metabolic, EoE does not cause hypoglycemia, so I consider EoE a totally separate thing from her metabolic issues). Symptoms can vary widely from person to person, but can mimic a fructose malabsorption or a HFI reaction (all but the hypoglycemia).

I believe Palmera had an EoE "attack" last Christmas (in response to wheat or possibly other ingredients in processed foods (crackers, chips, corn puffs) in which she finally expressed to me that she was having trouble swallowing food in general. While it might be one particular food that is a trigger it can make all foods difficult to eat following an attack because of its effect on the esophagus. At this time Palmera stopped eating even her safe foods (white rice, bread, meats, cheeses) and would only eat soft foods (like yogurt). Foods with too much texture become difficult, even painful, to eat when you have EoE. I remember in your comments somewhere that you described the feeling that your throat wanted to close up and that the only sweets you could eat were those with a lot of fat (soft, slippery texture)... and that made me think of you and EoE, could be a possibility? Now that we've cut out wheat and most processed foods Palmera is back to normal but it took several months to get there. She still doesn't like even rice pasta though like she used to. I think the high gluten content in the wheat pasta I had starting giving her made her so sick that she associates all pasta with a general "ick" feeling now. She does like the homemade, wheat-free, egg noodles I make her but those are very different from commercially made pastas (from a sensory perspective).

Allergies are such a sneaky thing and so very difficult to figure out. They are expressed in so many different ways that researchers are just beginning to figure out. I know many people who can detect an allergen the moment it touches their lips. They have the same kind of aversion to allergens that a HFI person has to sugar. So I think you could really be on to something there.

[antonia]

Does the cream have added gum? Most do these days, we have to buy ours from a local dairy to get it without. Do you need to add lactase to the cream for your lactose intolerance? Sounds like you've had a problem with lactose since infancy, so if it's congenital you need to even treat trace lactose products with enzyme and maybe even take additional enzyme while eating it. But yes it could be any part of dairy bugging you or something else entirely. So frustrating.

Salicylic (sp?) acid intolerance is also a "thing". Excuse my lack of technical speak. You might look at the foods that don't make you sick (like pineapple) and ask what ISN'T them.

Interesting, Palmera has on occasion woken up gasping for air and choking. It happened a couple times while sleeping in the car seat and will happen sometimes when she falls asleep on me on the couch. I assumed it was the position of her neck when not lying flat.

My husband also got stomach ulcers from regular Advil use. It's a bad deal.

We have almost done an endoscopy on Palmera twice. But by the time it's approved by insurance both times her symptoms had resolved, so didn't put her through it. The first time was after we started the HFI diet. The second time after our EoE like incident. Since it's an allergy she would have to be eating the suspected allergens for a meaningful scope. Given her hypo, when she stopped eating even safe carbs it was a nightmarish time. I'll never give her wheat again. She can experiment when she's older if she wants to.

[antonia]

By the way, I just love your description of the endoscopy. To be able to spend a couple hours as a professional basketball player and have no other side effects, sounds like a good deal to me!!

[antonia]

Ya, the gasping/choking doesn't always occur, I doubt I could get any action from docs on that. I also concentrate on diet and metabolism as I believe it is at the root of our problems. I wonder if she does have allergies or EoE that this occurs because there is swelling in the esophagus. Then if her neck is crooked while sleeping it can cut off the airway.

Salicyclic acid intolerance I think would technically be considered a chemical intolerance. Like an allergy, but not caused by a protein. There is also histamine intolerance which is related to allergies because histamine is released during allergic reactions, but histamine itself is not an allergen... I think. Anyway, there are low histamine diets out there. The low salicyclic acid diet was actually the first diet I tried with Palmera at age 3, before I even knew sugar intolerances of any kind existed. Since salicylates are found in most fruits and vegetables, the diet actually helped a little bit.