Hmmmm ... HFI Variation?

[meaniejean]

It occurred to me the other day that Deb's symptoms, my family's symptoms and Regina's symptoms are all similar and involve neurological and/or muscular symptoms. In addition, none of us had the characteristic STRONG aversion to sweet (mmm ... chocolate ... though I have seldom met a fruit I liked ...). And, we all had negative gene tests with Dr. Tolan. Hmmmm ... anyone else think this is a bit weird/interesting???

Anyone else Lithuanian or Finnish? Just curious ...

-Sandra

[Tammy]

Good one Fred. hehehe

As far as her statement, I took it as fact since way back when I was told Regina's liver biopsy showed a very small amount of enzyme. Enough that she can tolerate the very small bits of broccoli, etc. They called her "lucky" in that people with none at all would not even be able to do potatoes or any fructose at all. They didn't go into details back then, but there was something that told them this info.

As for nationality, we are a euro heinz 57. German, French, Dutch, Irish, English, and who knows what all else. Could be most anything in there. BUT I do know I have royalty in my blood. When the king got the maid prego he put her on the ship and my grandmother's grandmother was born on the ship on the way here. My great aunt used to have the tray she was served on but the family has since lost it. My great aunt is now 98 and she sometimes says it was the king of England, but she also says a king of Ireland. I think this is funny.........

Even though Regina LOVES her sweets, she also doesn't like any kind of fruit taste.

[Deb Mc]

Mar 3, 2010 14:09:15 GMT -5 fred said:

I have had all of the tests, Fructose Tolerance, Liver biopsy pre and post fructose ingestion, small bowel biopsy pre and post fructose ingestion and the DNA test.

Hi, Fred. Do any of the above tests measure liver enzyme activity? That is exactly what the fructose assay does. It requires a liver biopsy to extract the tissue needed. As far as I'm aware, Duke University Medical Center is the only place that offers this testing.

I think a person's tolerance level hinges on level of deficiency(partial -vs- absolute and in which enzymes) *and* the definer is intake of fructose. Of course, if one is missing Aldolase B then that's all she wrote: -0- tolerance, -0- intake.

Sandra, that's why I call us "flipsiders". ;D Our symptoms go way beyond those you read about in the literature. Whether a common mutation accounts for all these cases (20%) or there are a number involved, is a question that will remain unanswered until more extensive research is done on cases such as ours.

I have another theory that I believe is plausible (when I get time I'll post a new thread addressing my personal experience w/this.). And that is, that the neurological and muscular complications of being left untreated are caused by chronic fructose poisoning and chronic metabolic derangement. There comes a point where our bodies become saturated with these toxins causing inflammation and damage to tissue and organ systems, the nervous sytem in particular.

My ethnic background is: Polish Jew, Irish, English and Danish. My hubby (he has to be an asymptomatic carrier as both our kids have HFI) is Scottish. I think I may have read somewhere that HFI is more prevalent among folks of European decent. Then there's the issue of conveyance. Could the "flipside" variant hold dominant inheritance as opposed to recessive???

I'm with you, I never really liked fruit or veggies. However, I do crave sweets. Ditto both of my kids (grown, granted, but still my kids. ) And instead of diarrhea, my main GI symptom from birth up until treatment (51 years) was severe constipation. Once every 2 or 3 weeks, I'd get this gut wretching pain and just explode. My kids, however, had classic symptoms, those you read about in the literature currently available, the first several years of life, including failure to thrive. The neurol and other complications came later, marked by onset of convulsive seizures and kidney/liver disease in my older son, and immune system problems including acute anaphylaxis in my younger son.

You'd think one of the scores of docs we saw would have investigated. That they didn't, and some flat out refused to test us, is why we suffered complications and a lifetime of loss and disability. Once the complications started, our symptoms grew way beyond your textbook HFI indications, and ours went untreated for decades. This is what drives me to question and prod and turn over stones. I feel it's of the utmost important that the "flipside" of HFI be investigated and the carrier gene(s) identified, so as to update the literature bring the clinical picture full circle.

I am sure there are others out there like us, and more forthcoming. Perhaps our unrest will benefit them.

Deb Mc

[meaniejean]

Oh, Fred, the dorky humor is always a hit with me ; )

Tammy - we are a big mix of European ancestry as well - English, Scottish, Finnish, etc. We thought we were Polish, but turns out my Gram was from Lithuania.

Should we be calling you Princess Tammy?! That is a great story. You should do one of those blood test things where you can find out your ancestry!

Calvin really likes berries and he has a sweet tooth. I don't have much of a sweet tooth, but I do like ice cream a lot and I have a weakness for chocolate. Sawyer won't touch much of anything. He seems to be like me - likes the fake fruit flavors but not the real stuff. I can't get him to eat berries or cookies - just wants his milk and his mac 'n cheese!

If only they had done my liver biopsy correctly last spring - then I'd know for sure how much enzyme I had. Grrrr!

-Sandra

[sarosh]

Hello Deb,

The more I read the description of your symptoms the more I find an echo to mine. I started with the classical HFI symptoms but for the past ten years I have had swollen ankles and Heberden's nodes and for several months have been suffering terrible muscle pains in my legs ( my rheumatologist attributes them to vitamin d deficiency which I do have) . Also I have strange pin prick kind of pain on the sides of my toungue sometimes ( neurological I guess).
I hate all fruits and vegetables ( I can't stand the smell either) but yes I do long for syrupy kind of desserts.
I am of Indian origin but have lived in Dubai for the past 30 years. Threre is no way I can get any kind of testing done here so I am self diagnosed.
I agree with you on your theory of the eventual toxic effect of accumulated fructose as the muscular and neurological problems I have are relatively recent- by the time I had diagnosed myself and found information about HFI I had sufficiently poisoned myself wiht sugar coated vitamins and antibiotics, sugar free sorbital containing gum, coconut sauces , sausages and unsafe breads. And yes my GI problem is constipation too.

[Deb Mc]

Mar 7, 2010 4:11:31 GMT -5 sarosh said:

I agree with you on your theory of the eventual toxic effect of accumulated fructose as the muscular and neurological problems I have are relatively recent- by the time I had diagnosed myself and found information about HFI I had sufficiently poisoned myself wiht sugar coated vitamins and antibiotics, sugar free sorbital containing gum, coconut sauces , sausages and unsafe breads. And yes my GI problem is constipation too.

Hi, Sarosh. I am sorry you have no medical support to help. For what it' worth you're not alone; I'm in the same boat here in Arizona (SW USA). This is why more extensive research is so important, to increase physician awareness so diagnosis can be made and treatment started in a timely manner, before complications such as ours occur.

As it sits, the few docs (mostly neonatal clinical geneticists) that have even heard of HFI think it's all GI. And those simply recommend a low fructose diet, such as those shown on the BU HFI website. Only a few studies address complications and those all involve young children who didn't survive. Well, I think it's past time the literature be brought up to date to include the "flipside" thus bringing the clinical picture full circle

Do/did you experience recurring subluxations and dislocations?

The docs attributed my joint and muscle pain to myofascitis, tendonitis, hypertonicity, spasticity and contractures, but I strongly believe I also had/have neuritis. It felt like the nerves were being ripped out by the roots anytime I tried to move a body part. It was particularly troublesome in my hands, which I had to keep bound in compression gloves and thumb splints and wrist braces 24/7. At first, alpha lipoic acid helped, an indication of nerve damage at play, or perhaps a diabetic-type neuropathy, if you will. It got so bad I couldn't take care of myself let alone hold untensils to eat. It was a nightmare that spread body-wide. Anyway, chronic poisoning is a known cause of multiple or polyneuritis, as is chronic metabolic derangement or acidosis. For me, the disability didn't start until my twenties then it gradually worsened to the point I became an invalid - just like with chronic low-dose poisoning. Interesting, huh?

Best to you,

Deb Mc

[ukbill]

Deb, I hope you have seen my other reply to your posts.

I have been looking into the purity of Glucose / Dextrose mostly on your behalf as you and everyone who craves sweet tasting things seems to be far worse off physically than every one who avoids all added sugar.

So far all I can report is as follows.

Confectionery Glucose is only about 60% Glucose the rest is other sugars!

Glucose made in the USA is made form Maize corn which is 4% sugar to start with and no attempt is made to remove this in manufacturing process.

The Factories where Glucose is made also make Fructose using the same equipment and package it also using the same equipment.

Glucose bought in Drug stores (chemists in the UK) claims to be only 90% Glucose with no other added ingredient. Therefore we have to assume the remaining ingredient is other sugars (if in doubt expect the worst)

So we have to assume that unless you are buying Japanese Glucose (made from rice) as used by the medical profession you are poisoning yourself every time you eat anything with Glucose in it.

I am not wanting to make your life any harder than it is but I can remember the way I felt for 12 months after being given 2 massive doses of sucrose and Fructose.. However I cannot imagine that your fructose intake is any less than I had although not in one dose for sure due to the (suspected) contamination of the Glucose / Dextrose you are eating.

I would imagine if I was eating the same amount of contaminated Glucose / Dextrose as you seem to be eating, I would be easily as ill as you are.

And I would expect the Liver biopsy to be just the same as a result of constant long term damage.

If you try going on a long term Glucose / Dextrose free diet it surely cannot do you any harm (other than a more restricted diet).

However I would expect it would take about 6 months at least before you started to feel any improvements.. as It will take that long for your liver to start repairing itself.

After which maybe life can look a lot rosier for you??

Just suggestions from a well wisher.

I will continue trying to get absolute proof of the contamination or otherwise of Glucose / Dextrose but getting an answer out of food manifacturers is not easy particularly if their first reaction is "how much are we going to get sued for this if we answer
truthfully?"

Regarding joining this forum no I've had no spam or worries about security. (I'm an IT security contractor) it appears to be safe..

Anyway you can always use a Yahoo or G-mail e-mail account if you do not want to use your "normal" e-mail account.

Keep smiling..

Bill A.