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Post by ukbill on Mar 26, 2012 20:14:33 GMT -5
Recently had my liver enzyme levels checked and they were fine 100% normal.. which is a first for me  being 100% normal I mean. It is not true that liver damage is automatically present in anyone with undiagnosed HFI. If they are correctly diet controlled then the tiny amount of Fructose they get in the diet will be dealt with my the kidneys and any liver damage that is caused will be repaired by the liver without causing it any noticeable damage. The liver is constantly repairing itself it really is a remarkable organ.  It is only when the damage is considerable that the liver enzymes will start to show problems. Officially I think its called Sub-clinical if the damage cannot be detected (even if its really there) and clinical when they can see it and measure it. Hope this helps. |
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Post by jennifer on Mar 27, 2012 10:25:56 GMT -5
So it would be possible to have hfi even with no signs of liver damage?
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Post by Tammy on Mar 27, 2012 11:59:56 GMT -5
Hi Deb. Regina actually gets her enzyme levels checked more now than she did as a child. Mostly due to a different dr now. No other reason. All through her childhood her dr would tell me that they were still higher than he would like, but lower than they were. She would only have them checked every couple of years.
Now the current dr checks them about once a year and they come back completely normal.
The liver does heal itself, but some of the other damage will always be there. When the liver was damaged, the blood could not get through so the body tries to help itself. The blood found other ways to get around the liver, rather than through it, creating little blood vessels all through her abdomen. This does not show up on any tests but when she had to have surgery, the surgeon said it was like nothing he's ever seen in there. He couldn't even be sure he didn't leave anything bleeding in there. The end all worked out for the good, but they have told me that surgery for her should only be done as a last resort.
Again, hers was an extreme case of damage. I just laugh when I get the standard letter in the mail saying her liver is normal with no sign of cirrosis. It doesn't show the past damage around the liver. That doesn't heal.
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Post by ukbill on Mar 27, 2012 21:18:50 GMT -5
So it would be possible to have hfi even with no signs of liver damage? Absolutely! There is no reason why a person with HFI who is controlling their diet properly should have or get any detectable liver damage. If the baby avoids all Fructose from birth (except training episodes where they eat something and throw up) then no lasting damage should result, unless they are repeatedly given Fructose containing foods or eat them because there is nothing else and they are starving. If damage is done that causes Sclerosis then although the liver can recover some damage will remain. But this will be visible only on a scan or operation. We are not sure why some children are better at rejecting sweet flavours and staying safe than others who seem not to protect themselves. I am trying to research at the moment possible causes for this. |
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Post by jennifer on Mar 28, 2012 9:08:35 GMT -5
So if fructose was not avoided, there should be some damage to the liver that would be seen on scans? I ask because my daughters liver looked good on CT scan and she has only begun avoiding furctose at age seven, otherwise up until now had consumed a lot of fructose containing foods. I think this is leading docs to believe her problem is not hfi. They now want to evaluate for motility disorders. Either way until we have answers, we are avoiding fructose, it has not eliminated symptoms but has for sure calmed them down a lot.
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Post by Tammy on Mar 28, 2012 10:34:57 GMT -5
If she ate "normally" until age 7, and doesn't have any damage, I'd tend to side with the drs that it's something related, but not HFI. That is from birth.
It still doesn't hurt to keep her on the fructose free diet until they figure it out since it seems to be helping her.
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Post by jennifer on Mar 28, 2012 12:04:05 GMT -5
Yes, thankfully no seen damage, but a history on on and off tummy problems her whole life with no answers or reason to explain flair-ups. Other then positive FM breath test. So we will stay with the fructose free diet as we keep looking for answers, at least this has mostly calmed down the extreme pain episodes with vomiting.
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Post by charlie on Mar 28, 2012 14:34:31 GMT -5
We are awaiting a gene test on Megs as the first confirmation step about HFI but it may well be that there is an inbetween condition of fructose sensativity that makes them very, very sensative to fructose but isn't damaging the liver or showing positive liver signs of damage. Will wait and see what her tests come up with before looking more down this route. But it looks like they all need the same solution and that is a carefully balanced diet.
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Post by jennifer on Mar 28, 2012 16:08:55 GMT -5
So true about the diet, but having trouble convincing loving family members that we are trying to help her since they all think we are depriving her and need to give up the diet. Just not willing to see her be so sick again!
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Post by jennifer on Mar 29, 2012 12:45:51 GMT -5
Fred I totally agree, I keep asking them why they would rather see her sick and suffering. It seems they think depriving her of the foods she likes is more harmful then giving her foods that make her so sick. Either way, I am determined to do what is right for her body and for now we need to keep her well until we get some answers and that means no fructose. If it is HFI or FM either way her body cannot handle it and even though some symptoms remain, being completely fructose free has calmed her symptoms down a lot and she can at least function and make it to school which she was not able to do before.
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deb
New Member
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Post by deb on Apr 8, 2012 22:46:19 GMT -5
Hi again
Thanks for sharing thoughts and experiences re liver damage and testing. We are still figuring out next steps-the endocrinogist concluded there is no hormonal problem and told us to go back to metabolic diseases for further exploration of fructose issues- but the metabolic doc told us it is "just fructose malabsorption" and to go back to gastro, becAuse the hfi gene test from Baylor (where they examine the whole gene) was negative. So we have asked to be referred to a different metabolic doc, as my understanding is that test doesn't exclude hfi(?) and she hasn't been tested for fbpase either. In any case, we are now down to as little fructose as we ever have been (minus some errors as we still figure things out) and both kids are doing much better- my younger son has slept through the night for an entire week for the first time in his life! So we continue on, despite our so-far uphill battle with the doctor...
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Post by charlie on Apr 9, 2012 5:00:34 GMT -5
No, you are right Deb it doesn't absolutely rule out HFI as it only detects certain mutations and yes fbpase it would appear is not automatically tested for at the same time, which doesn't really make sense, you would think they would test for all types of fructose related genetic problems at the same time, surely in the long run that would save money.
Ok, where to go from here, well it sounds like you have a clear answer on fructose anyway from your kids improvement. It maybe an FM problem, I do think from others I have been in contact with that there is possibly an inbetween fructose problem yet to be detected, lets face it HFI wasn't detected until about 1956 so it is still in its infancy in terms of medical diagnostics.
This is why a board like this is so great as we can put our experiences together to help the doctors work it out. Our neurologist is all for parent groups putting sensible plans together to help them in their knowledge.
But for now, for a good life I should stick to the diet you are obviously doing a fantastic job with it if your kids are responding and if they are getting healthier then that has got to be good. After all, the only treatment is diet anyway. Maybe when they are really good and life is easier then you can try a rechallenge and see what happens.
With FM sometimes after about 4 years clear of fructose we were told they can start to tolerate more which is why we tried the low Fodmap but that didn't work for Megs which is why they are finally testing for HFI properly (I do also wonder if the gene test has only recently become available in England.)
I am very lucky here, Megs doctors are really working positively with me and we do have the NHS so everything is paid for, which is why I feel so sorry for those that have to fund it themselves or get such negative responses from their doctors. This is stressful enough without having to fight every step of the way too.
Anyway keep healthy.
Charlie
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Post by tikitavi on Apr 10, 2012 5:12:17 GMT -5
Charlie wrote: With FM sometimes after about 4 years clear of fructose we were told they can start to tolerate more which is why we tried the low Fodmap but that didn't work for Megs which is why they are finally testing for HFI properly Four years? I hadn't heard that. Interesting! |
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Post by dzhura on Apr 20, 2012 12:28:49 GMT -5
Hi everyone! I am posting this message on a few topics because I don't know how to create a new one. I'd like more people to read my message. 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?
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Post by charlie on Apr 21, 2012 4:41:13 GMT -5
I must say this is a new one as I understood that carriers did not show symptoms but by the sounds of it she has all the signs of HFI, maybe it is now that more people are being tested the original theories are changing.
However, if she is showing signs and has liver damage and they are happy it is not because of any other illness then stick to the HFI diet for her sake.
Its great hearing that so many more countries are now picking up HFI.
anyway, welcome to the board. Posting a new thread: click on the category you want to put it in eg children 5 to 11 and on the right hand side you will see New Thread, click on this and a screen will come up, give it a brief title and then in the main box type away. If you want to make any changes to it after it is posted then click on modify which again will be in the top right of your post and you can edit it. You can't edit other peoples but you can edit any post of yours.....
Feel free to add anything, the more info we get the better for everyones knowledge and sometimes it is the littlest detail that makes other thing, oh, that's what I get and our understanding of this little understood disorder grows.
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Post by dzhura on Apr 22, 2012 1:29:05 GMT -5
Charlie, thank you very much! I'll post a new thread.
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being 100% normal I mean.
