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Post by sophiesmama on Aug 16, 2010 14:11:57 GMT -5
We had the blood drawn on Sophie for the DNA test. If its negative, does this rule out HFI? If not, what do they do next? We are seeing a geneticist for this currently. Do they ever just diagnosis on symptoms alone?
Also, if you had a postive breath test for Fructose, does that mean it cant be HFI?? She so far has been diagnosed with FM. However, she has been all sugar free pretty much for 22 months. And, before that, we knew she had problems with sweets and she didnt get them often.
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Post by charlie on Aug 17, 2010 11:26:56 GMT -5
I don't think it completely rules out HFI as there can be some variants. Have they done any liver tests on your daughter eg liver function bloods as HFI is a liver problem so that may show some indication if it is HFI.
There seems to be differing ideas on the breath test as if you have a problem with fructose in whatever form it could be positive as the body is still reacting. alot of people that suspect HFI wouldn't do a breath test as it is too dangerous for the liver so maybe not enough HFI sufferers have done it to answer that.
As alot of the treatment is the same the best things is to treat it as though it is HFI and use the very strict diet, she obviously has a problem with fructose in some form if the breath test was positive so start on the diet anyway and then you may down the line get a clearer diagnosis. You say she has been sugar free for 22 months but is that fructose free, I seem to remember you mentioned ketchup in one of your posts so there may be alot of things slipping in that need to be avoided for a full result.
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Post by sophiesmama on Aug 17, 2010 20:10:27 GMT -5
They did a lot of labwork. liver was fine. protein in her urine. repeating that tomorow.
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Post by dzhura on Apr 19, 2012 15:04:43 GMT -5
Hi everybody! I am a mom of a 5-year old girl from Ukraine (Eastern Europe, former Soviet Union Republic). A year ago we ran a genetic test to find out if my daughter has HFI (she refuses to eat fruits and anything sweet since I started giving her regular food, her liver is damaged etc) and the result was this: she is a carrier - compound heterozygous on mutations c.519>G (p.Tyr173Term) /c.521C>A (p.Ala174Asp) in gene ALDOB. Our genetic doctor told is that her diagnosis is confirmed, she has HFI but not as severe as in homozygous because the mutations weaken each other (I don't know how to say it better in English) I wonder if any of the members /their children have the same?
I am so happy I found this forum, I got more information in one day on interesting topics than I did in 2 years researching on-line and talking to Ukrainian doctors!
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susan
Full Member
CONFIRMED HFI
Posts: 113
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Post by susan on Apr 19, 2012 17:32:10 GMT -5
Hi. Good to have you. I am from mostly European heritage. English, Irish, German. I am interested in Blood types. I am making a list. Please share your daughters blood type if you are willing. Anyone else, also. Susan
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Post by dzhura on Apr 19, 2012 23:49:09 GMT -5
My daughter is IV+, I am III+, my husband is IV+, my son who is 2,5 is II+. All family members on my side and my husband's side can eat sugar and fruits. My daugher is the the only one I know who can't.
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Post by ukbill on Apr 22, 2012 17:12:57 GMT -5
Welcome to the Forum!  This is normal with the way HFI occurs. I sincerely hope your daughter is now on the way to a full recovery form her liver damage? With regard to the first question.. I cannot see why a person with HFI would not fail the FM hydrogen breath test. ALthough I would imagine the HFI reaction would be rather spectacular and indicate that far more was going on than FM. The main problem we have is that the HFI genetic diagnosis is not 100% and there seem to be a number of sub HFI like conditions as yet un-identified or named.  If she has no Liver damage this dose not mean she is not HFI she simply might be avoiding enough Fructose to not cause identifiable liver damage. |
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Post by dzhura on Apr 23, 2012 11:49:45 GMT -5
What is hydrogen breath test? People on this forum are talking about it but I don't think there is anything like this in Ukraine. Diagnostics in Ukraine is far behind.
We do fructose-loaded test - you eat a certain amount of fructose and then for the next hour I think they take you blood every 15 minutes to do a sugar curve. My daughter had it done with pure glucose, the doctors did not recommend us to do with fructose because of the liver problems.
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Post by charlie on Apr 23, 2012 15:00:16 GMT -5
Basically, it measure the hydrogen emitted in the breath. If you are malabsorbing fructose or lactose it shows an elevated level of hydrogen in the breath, I assume as a result of metabolic acidosis. It is a diagnostic test they seem to be rather keen to do before other tests for HFI but it should only be used once HFI is ruled out and FM which is fructose malabsorption is suspected. The blood test is a more solid test for HFI but only if necessary if the gene test is negative or not done as the load of fructose could seriously harm you. so no, don't get it done, you have your gene results and the fact that your daughter has liver problems is a definate contra-indication.
Get her on the HFI diet as quickly and as thoroughly as you can with no cheating for a long time to allow her liver to heal. That really means NO fruit, NO veg and No sugar, then when things are settled you could try a few of the safe low fructose veg maybe.
You may find her constipation improves as her system improves. any bran is probably not a good idea as the husk, as Fred has said is where most of the fructose is stored.
Make sure she is drinking plenty of fresh water and eating small little and often to keep her system healthy.
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Post by charlie on Apr 23, 2012 15:17:05 GMT -5
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Post by dzhura on Apr 23, 2012 15:34:09 GMT -5
thank you charlie!
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