New GI Appointment!

[meaniejean]

Calvin had his appointments in Boston yesterday. We met with a pediatric GI and he actually was familiar with HFI!!! Amazing!!!

He ordered a bunch of tests and thought it might be a good idea to do a biopsy if none of these blood tests suggest a different direction. He wants to do an open biopsy to get enough tissue to test for all sorts of stuff, not just HFI/FDPase. He believes all of this sounds like a metabolic issue and NOT an allergy (allergy testing at his allergist appointment two hours later was completely negative ...)

He also echoed what I have learned on here - that there are different variations of HFI and for some reason some people have mostly neurological or muscular symptoms. He said that they don't know why it happens that way yet, but different people react differently.

So, today I feel hopeful, even though Cal woke up this morning and started vomiting ... likely the pizza from South Station last night mixed with the blood draws and too much exercise ... poor kiddo ...

We still have more blood tests to do - they needed 20 tubes of blood and so, obviously, we couldn't do them all in one day! They "only" took 9 ...

Keeping fingers crossed,
Sandra

[Deb Mc]

Bless his heart! I sure hope this round of testing produces some answers for you.

He also echoed what I have learned on here - that there are different variations of HFI and for some reason some people have mostly neurological or muscular symptoms. He said that they don't know why it happens that way yet, but different people react differently

I'd love to know his source for this information. I have yet to find a published paper that addresses the muscle problems, and was told by BU's HFI lab that that's because none have been reported in association w/HFI. Well, aside from mine.

I don't know if this is relevant or not, but I''m also severely deficient in fructose 1-6 bi and di-phosphate. None of my doctors can tell me if FBPase deficiency is inherent to HFI or if I have both. Perhaps if it is a double whammy that might have something to do with the muscle problems.

So, today I feel hopeful, even though Cal woke up this morning and started vomiting ... likely the pizza from South Station last night mixed with the blood draws and too much exercise ... poor kiddo ...

Nothing as uplifting as a new ray of hope. Pizza? Are you letting Cal eat a normal diet pending a definitive diagnosis or was that some sort of test?

Wishing you and yours the best; hang in there.

Deb Mc

[meaniejean]

I wouldn't say we are allowing a "normal" diet, but we are not being as strict as we were before. When we realized meats were a problem, we cut back on those and allowed a little more fructose. My homemade tomato sauce is something that we have been allowing at home. Of course, I make it with crushed tomatoes and dextrose, so the fructose load is less than a gram for the amount that they eat.

So, I don't know if their sauce has significantly more fructose in it or if there was just too much fat/oil - we don't do well with high fat for some reason. Sawyer will even vomit if he gets too much.

Basically, we have been allowing things if they are allowed on the gout diet - which involves low sugar, low fat, very, very little meats/beans, no yeast extracts - seems to be working??? I just don't know anymore ... if this is a uric acid issue they might be able to eat blueberries and cherries because they help the body get rid of uric acid ... please, please, please ....

We have decided that we need to restrict fructose once again for now, though. I think we are going to stick to maybe 2 grams per day. This still allows for a small amount of tomato sauce or pumpkin bread, which are favorites - at least until we find out more from the tests. We were letting Cal have some yogurt with sugar in it, but that fell apart after a week - he is a bit delayed in some of his reactions.

-Sandra

[Deb Mc]

Hi, Sandra.

The more I read about your family, the more similiarities I see and the more I think our families have in common.

We have problems w/fat and protein, too. At one point, I went on a low protein diet, then cut out all meat. Come to find out, it was the seasonings/herbs and curing agents added to the meats during processing or that I sprinkled on before cooking.

One of my muscle biopsy abnormalities was prominent saturation of red o stain, meaning high levels of fat in my muscle. I have xanthomas and villanodular synovitis (both associated with deranged lipid metabolism) and don't break down and metabolize fats like "normal" folks do. Ditto my son.

My older son, who's suffered serious neurol complications, has a history of amino acidemia (most amino acids elevated to one extent or another), which can cause a back up of by-products of failed or partial metabolism, some of which are toxic the brain, adding to the metabolic derangement from other types of acidosis and causing deranged lipid metabolism. Interesting, huh?

Has your son had any plasma amino acid assays done? It'd be interesting to see if he has a problem metabolizing protein like my son does.

As a child, that same son's ALK PHOS was always elevated along w/liver enzymes, sometimes only mildly. Once he reached puberty his anion gap increased, as did his blood lipids. He had high blood pressure (yet he was black belt in Taekwondo at the time, the epitome of physically fit) and his blood albumin was elevated- an indication of proteinemia or too much protein in the blood (kidney malfunction).

Come to find out, fructose sequesters phosphate, causing ATP depletion, which I'm sure explains my "mitochondrial proliferation", another abnormality that suggested I had a mitochondrial myopathy. My neurologist and genetist #2 basically told me to go home and die, that there was no treatment other than what I was doing on my own. Thank goodness I didn't listen to them, as I would be dead. That's for certain.

Back to my disabled son, at age 4, when he had his first convulsive seizure, he had excessive levels of albumin and urobilinogin in his urine, and his LDH and SGOT shot through the roof ((702 and 48, respectively, and he only weighed 32 at the time). Years later, physicians reviewing his records said these abnormalities indicated my son was in kidney/liver failure. The treating neurologist at the time, however, had dismissed it as "transient" although of "unknown cause".

As an infant, I developed a strong aversion to meat and milk that has lasted a life time. In retrospect, now that I've been correctly Dx/d, I think the milk aversion was born from being bottle fed formula. Back then, most if not all infant formulas contained corn syrup or some other form of fructose. And I'm thinking that aversion transferred to all milk when my mom tried to get me to drink cow's milk (still can't drink it). Hot dogs made me vomit as did most meats and pizza. But then my mom would smother my meat in ketchup and force me to eat it. I now wonder if my aversion to meat arose from amino acidemia secondary to the HFI instead of just the fructose in or on it???

My younger son also developed a strong aversion to meat and milk early on. He was breast-fed so my theory re my own aversion doesn't fly for him.

Funny thing - we both went on to eat meat and pizza as teenagers/adults no problem (or so it seemed) yet the last time I tried pizza (2007) it almost killed me. In fact, that is what sent me into my last neuromuscular meltdown and turned me into a giant contracture w/living rigamortis for a couple years. This was before I suspected HFI and the pizza was GFCF, peppers being the only topping. All 3 of us - me and both of my sons - have always craved hot, spicy peppers. Now we can't eat them either.

Oh! The uric acidemia - according to Dr. Tolan, "HFI causes, indirectly, hyperuricemia which eventually can also leads to gout."
Were you aware of that?

Like your lil' pin cushion, my older son was tested for about every metabolic disorder on the books, but not until his mid-twenties. It was crazy. The results always came back with non-specific findings that the doctors dismissed but I latched onto like pieces of a puzzle. Eventually, after adding mine and my other son's, the true picture started emerging and I eventually, after eating raw honey at the recommendation of one of my docs (almost killed me), diagnosed myself and my sons. At the moment, we're waiting for the results of his fructose assay. I'm betting he's missing Aldolase B like me.

Which brings me to diet. I get the impression I'm the only one here with an absolute deficiency, But then, like all of you, I used to eat practically everything (packaged breads, tomatoe sauce, oatmeal, potatoes, soda, chocolate, etc.) which makes me think either: 1) I was born with a partial deficiency that worsened and went absolute (although the docs say I was probably born missing Aldolase B - for what they know) or 2) my saturation theory is right on, that it's the amount of intake in relation to the extent of deficiency. In other words, it all boils down to overload, kinda' like Dr. Doris Rapp's "cup" theory. Only for us, it's fructose and all cognates thereof, fructans included.

For awhile there, we thought we weres simply gluten intolerant. My younger son tested positive for the genetic marker (HLA DQW2) when being tested for MS back in 1995. All 3 of our blood tests (Iga), however, came back normal but we were advised to stay on gluten free diets due to the marked improvement in our health. Come to find out, we are fructose intolerant, not gluten intolerant. Fructans are a form of fructose and most gluten-laden foods contain fructans, a form of fructose.

Our whole lives we thought and were told we were lactose intolerant. Come to find out, we're not. It was the fructose all along. Darn fructose!

Excuse my rambling...still trying to make heads and tails of it all.

Please keep us posted on what you find out, the results of the testing. I trust Cal is feeling better now and is done with all the bloodwork, at least for awhile.

Deb Mc

[charlie]

I'd love to know his source for this information. I have yet to find a published paper that addresses the muscle problems, and was told by BU's HFI lab that that's because none have been reported in association w/HFI. Well, aside from mine.

It would be interesting to know more down this line, Megs often complains about her legs ache, she has tingly legs or toes or her feet hurt. Being only 7 she is only really just starting to be able to describe problems. And is it just normal growing pains or something more. Who knows. Seeing the consultant again next week so will ask more. Plus she has had loads more dizzy spells since we started the gluten free and glucose free diet.

Sandra, sounds like you guys are going through another rough patch, good luck with the new tests. Megs has delayed reactions to things, you try things for a bit and all seems OK then maybe its too much in the system and she reacts so back to the drawing board you go. I'm surprised they suggested tomatoes are OK as they are part of the belladonna family and alot of people react to them and they are quite acidic.

[Deb Mc]

It would be interesting to know more down this line, Megs often complains about her legs ache, she has tingly legs or toes or her feet hurt. Being only 7 she is only really just starting to be able to describe problems.

For what it's worth, I've had muscle problems as long as I can remember. Spasticity (calves, feet and toes) and joint hypermobility issues since before school age. The tingling or neuropathies didn't really start until my teens.

If your daughter's been Dx/d w/HFI, did she have the DNA testing or was she diagnosed by other means? Hope you don't mind my asking. I'm just curious since the muscle problems appear to go hand and glove with the "flipside" of HFI, meaning the 20% for which the carrier gene(s) remains unknown.

Tomatoes, btw, are very high in fructose. Raw or prepared. Whereas I have always craved sweets, I did develop a STRONG aversion to tomatoes early on. YEE-UCK!

Deb Mc

[meaniejean]

Ya, we'll probably end up removing the tomatoes soon. I've been reluctant because it makes things so convenient and I was doubting that fructose was our problem ... major denial ...

Cal has the same finger, hand, foot, leg pains, tingling, "buzzing" (that was a new one the other day). Can't even walk sometimes. Sawyer gets one really red ear and broken capillaries on his cheek. He also has VERY loose shoulders. His old ped mentioned it and then said "I don't know what to make of that." Hmmmm.

Calvin has also had a blood draw when he was younger that was "lipemic," which probably means his blood lipids were abnormal. The specialist in Boston ran a lipid profile - something that has never been done before. Cal has had abnormal urine amino acids, but his plasma amino acids have been pretty normal. The last one was done soon after eating, so everything was really high, but they said that was probably just from the food. They just ran another one in Boston, so we'll see what that shows.

We also have hypermobility in our family. One of my little sisters has features of Marfan's. Since I started eating sugar again, my shoulder has gotten really bad. It felt dislocated all day on Monday. I kept trying to get it to "snap" back into place, but it was just stuck. My whole body hurts today and I feel like I can't actually stand up straight. Like the vertebrae are all stuck together.

This is why I need a diagnosis. Denial keeps getting me in trouble.

Charlie - Sorry Megs is having dizzy spells. I have to say that the gluten free diet did not work for me - probably because we ate so much brown rice syrup - which is AWFUL for us.

I just don't understand!!! But I truly am hopeful that these new specialists will find the answers. And then maybe we'll all get some answers!!!

Hugs,
Sandra

[meaniejean]

Oh, Deb. I meant to mention that with FDPase deficiency there is an optimal ratio that should be kept between cards/protein/fat so that you stay out of acidosis. If I find the article I read this in, I'll send it along. Basically, high carb, low protein, low fat, but it was more specific than that.

[Deb Mc]

Mar 5, 2010 17:04:35 GMT -5 meaniejean said:

Oh, Deb. I meant to mention that with FDPase deficiency there is an optimal ratio that should be kept between cards/protein/fat so that you stay out of acidosis. If I find the article I read this in, I'll send it along. Basically, high carb, low protein, low fat, but it was more specific than that.

Please do! I think I told you that I have FBPase deficiency but think that may be inherent to HFI, or one in the same, and that I don't really have any medical support for my HFI, only for the secondary issues.

I hate to say this, but you really do sound like my east coast counter part, only younger. I have two boys, too, and both have this genetic whammy and life does go on.

Interesting you mention Marfan, my younger son has some Marfany features (tall, lean, flat butt, long arms, CT problems) and does have EDS. He's the one who tested positive for the genetic marker for Celiac Disease, and he was also Dx'd w/autism, which I think was actually chronic fructose poisoning and/or toxic back up due to kidney malfunction. Nonetheless, he's a brain and graduated Magna Cum Laud from ASU's college of Engineering without putting forth any real effort. He was a-social his entire life despite being very popular based strictly on looks, but has recently snapped out of that since going low-fructose. He's now a successful software engineer making mega bucks doing something he enjoys immensely. He still lives at home, where he gets a fructose free dinner every night. <lol>

I don't mean to sound foward but you should really try a "no-fructose" diet, as my chiro calls it, for just a week and see how you feel. It is not the end of the world. I find flavor in other aspects of my life that I can once again enjoy, thanks to my "no-fructose" diet .

One last thing - so much to say, so little time - my chiro summarized 3 years of medical records for me - he's been so nice - in a report that outlines some of my muscle problems. In that report, he does objectively correlate all those problems (spasticity, hypertonicity, myofascitis, etc.) to fructose intake and, likewise, their resolution to fructose elimination or "no-fructose" diet. It's all spelled out in black and white. He told me he never would have believed it had he not been treating me both before and post fructose elimination. Unlike other docs I saw, he saw me 1-3X week for 3+ years straight and it was all hands on. If you'd like to see that report as a reality check that fructose intake in HFI can indeed cause disabling muscle problems, just let me know.

Have a nice weekend! Don't forget to take care of yourself.

Deb Mc

[charlie]

Hi Deb, won't go into diagnosis again here, posted it all in the How were you diagnosed bit in miscellaneous. They seem to drag their feet here in England on any definitive tests on HFI, I'm going to push for more answers when we see the paeds next week. they are verging more on malabsorbtion as her liver tests were OK so I'm following the gluten free idea on fructans for that at the moment, she does seem vastly improved on that and I'm lucky she is not fussed about the plain food. Just for now we are also off glucose so I'm not sure which is the answer but I'm enjoying the Megs I've got for now!!! Minus the lack of sleep still. Going to ask about tryptophan deficiency on Thurs too.

[meaniejean]

Got a few results back but not sure what they mean yet.

The things that stand out so far are:
Low plasma carnitine
Low Vitamin D
Low HDL
Anemia
Elevated SED rate
Elevated amylase

Waiting to see what it all means ...

[meaniejean]

Back to fructose-free. Can someone throw something at me the next time I try to take us off of the diet. Much appreciated!

We are also starting some additional supplements to correct the deficiencies that probably resulted due to damage that I image was caused by fructose. Awesome. UGH!!!!

GI doc does not recommend further testing - just says to continue fructose-free because he thinks testing might do more harm than good. He recommended one of their nutritionists because as he stated "some are better than others." He thinks we are managing to keep him pretty healthy, so we should just keep doing what we are doing (I'm assuming minus poisoning him with fructose!)

We are waiting to hear back from the immunologist. I am certain she is still going to want to do the endoscopy. Perhaps he has some delayed allergies (beef?, eggs?) in addition to the fructose intolerance. I'm going to let her take the wheel on this.

Thanks all for listening/reading ...
-Sandra

[elilly]

Sandra,
I can empathize with you. Graham has HFI, a soy allergy plus celiac disease, a dairy intolerance, and an immune deficiency. If our kids only had one thing it would be so much easier to figure out!!!
Erica

[meaniejean]

Erica - thanks for the support. I guess I should be counting my blessings that they handle as many foods as they do! I get myself in trouble through my desire to make this ONE issue instead of a more complex mixture of issues.

So, fructose intolerance (of what kind we don't know ... and maybe never will?), and what seems to be some sort of a reaction to - so far it looks like yeast extract, parmesan, yellow 5, BHA/BHT, chocolate, cinnamon & cloves. Other possible foods seems to be beef and eggs. But Cal has tested negative for all food allergies. Hmmm ...

Calvin also has autoimmune thyroid disease and we are having Sawyer tested in the next couple of weeks.

I can't imagine what the dairy, gluten and fructose intolerance diet looks like! You're a hero!

Best to you and Graham,
Sandra

[elilly]

Sandra,
Thanks for the words of encouragement. Now that we've got some of it figured out, it's easy peasy. We're still trying to figure out what the cause of the fructose intolerance is. He gene test for HFI with Dr. Tolan was negative. I'm seriously wondering if he has an FDPase issue. So, we're trying lower fat/protein to see if that helps. I've been trying to avoid a liver biopsy since Graham has a history of seizures with anesthesia, specifically nitrous oxide.
Not that I'm trying to project our issues on to your kiddos, but if eggs and beef seem to be an issue, I wonder if a lower protein diet might be beneficial for your boys as well? I think that's why we often have "lapses" where things aren't good. Maybe because we have more of an issue than "just" fructose.
Would you mind sending me any info that you have on diet for FDPase? I am still arguing with our GI doc who thinks that Graham's fructose induced diarrhea is "toddler's diarrhea". Ugh!!!

[jejns1]

Meaniejean,

My daughter also has autoimmune thyroid disease (Hashimoto’s Thyroiditis) in addition to either HFI or Fructose 1,6 Diphosphatase deficiency. I wonder how many people with HFI also have thyroid problems and what the connection is.

Janice

[charlie]

Oh Sandra, sounds like you are going in as many circles as we are. How frustrating it sounds like you are back to square one. Have you looked into tryptophan deficiency as fructose can block its absorbtion. Google it in wikipedia, I found another site but can't locate it again just now, will try to find it. Good luck. Keep you chin up and stick to the basic foods!!!!. Looking at the list you still have problems with Megs can't do chocolate, cinnamon, cloves or yeast extract. I noticed on the ingredients for that now they list vegetable extract which sort of eplains it now, they never used to list it.

[meaniejean]

We also stay pretty low protein/low fat. The fat seems to be a bigger issue than the protein for us - for example, switching to skim milk helped a ton and a few too many of my high-fat homemade shortbread cookies puts me over the edge.

Calvin has pneumonia - not sure what keeps causing this - my inclination is a sensitivity or metabolic issue as it seems to be related to food intake and comes at the same time as other symptoms such as the hand and foot pain and headaches.

We are still waiting to have the vasculitis workup that the immunologist wants.

FDPase still seems a possibility for us as well, but we are not testing for that anytime soon - not looking forward to another biopsy.

Best to you all,
Sandra

[meaniejean]

Oh - did I mention mastocytosis anywhere here? Charlie - look it up - it can cause people to pass out (and cinnamon, cloves and yeast extract are all common triggers ... just a thought)