DNA test results baby Hugo

[ljs678]

Well I think I am going mad...

Got an email from the geneticist yesterday. Said she had got the DNA test results back for Hugo and they were negative for HFI. She said the test is not 100% accurate but almost 100%.

She again suggested doing the fructose loading test on him, saying that given the DNA test results the risk was very small. Or she suggested reintroducing fructose under hospital supervision and checking liver function over a week.

So I was thinking I am just wrong on this, but how?

Then this morning an email from the pediatrician saying that he had tried to give Hugo an iron supplement and I rang after 2 days saying Hugo had stomach pains and that he then checked with the manufacturer and it had significant amounts of fructose in the drops, despite this not being mentioned on the compendium.

He said "despite the test being negative, there is definitely something wrong".

Now I just don't know what to do. I don't want to risk the fructose loading test. Does anyone have any experience of the second suggestion, reintroducing fructose and checking liver function? How do they do this?

[colormist]

There are certain mutations of the gene that aren't documented, so it is possible that it's still HFI. You could press for a liver biopsy (which will give a definitive result one way or another) or the fructose loading test. Any sort of reintroduction of fructose makes my skin crawl, though.

[Tammy]

When Regina was first Diagnosed, there were no blood tests yet. She had 2 liver biopsies. The first one was done with a needle, with no results (but I'm not sure what they were actually looking for as they didn't know). The second one was done surgically, and HFI was positively identified.

Years later, the blood test is now available and just for knowledge purposes only, Dr. Tulan test her blood. It came back negative. So Regina has a mutation that isn't found by the test. At that time, he told me it only finds 80% of the mutations.

So I would push for the biopsy. I wouldn't want to feed him fructose for any reason until I knew.

Just my opinion.

[ljs678]

So today we had an appointment with the consultant geneticist (as well as with the surgeon, but that is another story...)

She said the DNA test they did is about 97% accurate. She said normally she would leave it at that, with a negative test result.

But because Hugo's story is so strongly suggestive of HFI, she wants to test further. She wants to do the fructose loading test as any other test could confuse some other reaction that is happening when the food hits his stomach

So I explained again I was worried about the fructose loading test (this is why we did the DNA test in the first place).

She said she has done it with a number of children with HFI and has never had any major problems, no one has lost consciousness. They check glucose levels every 5 minutes by finger prick test so they have an immediate result, and if they drop they give glucose by iv. They will take a second vein before starting so there is no question they cannot get the glucose in quickly if needed. So we have set a date, 8 April, for the test.

I am apprehensive but it seems the only alternative is no diagnosis and therefore no help with diet, liver tests, or other follow up.

On a slightly different issue, she said what was not typical about Hugo's symptoms is that he gets stomach pain after ingesting fructose. As he is only just 1, it is hard to be sure on this but after vomiting up the food, he writhes around grimacing and continues vomiting and retching for some hours. So I am as sure as I can be that he has stomach pains.

She said everything else is typical, though she commented that it was a long time before he vomits after fructose (1.5 - 2 hours) though the only 2 times he had something really sweet (barium meals, for tests for his gastric volvulus) he had to be forced to drink them and then vomited them back up within minutes.

Do others get stomach pains after ingesting fructose? Or does this suggest it might be something else?

Thanks in advance for any help. I know there are many on the board who oppose the loading test, and I have tried to avoid it because of this. However now it seem we have no alternative other than to live without diagnosis and therefore without help from the medics.

[julienc]

I don't know much about the loading test. If your doc has done this successfully with other HFI patients in the past, then I'd be inclined to trust them. But again, I don't know much about this.

Is a liver biopsy an option? I was under the impression that a biopsy is the only rock solid method of diagnosing HFI.

Your description of Hugo's reaction to fructose sounds relatively normal. My most overwhelming sensation of too much fructose is extreme nausea, but I also have stomach cramping. I think our whole digestive system gets rocked from the fructose, so cramping, pain, etc would fall in line with this.

I have only vomited a few times in the past from too much fructose. The most recent time I can remember, I had major stomach cramping, and it was AT LEAST an hour and a half after ingesting the fructose before I vomited. Not to get too graphic here. It was my bachelorette party, so I remember it strongly. My dear friends were trying to find an alcoholic drink that I "liked". I must have tried 15 shot drinks, all sweet and nasty tasting. I thought I was going to die. We finally left the bar, and I made it back to my friend's house before puking my brains out. Sadly, not from being buzzed or drunk but from all the fructose. Ah, if only I had known about HFI back then. Okay, my trip down memory lane is over.

Point being, I don't find the stomach cramping or the time to a reaction abnormal at all.

[charlie]

It is so hard when they are so young to know exactly what is going on as they are too young to say how they feel. Megs used to get alot of stomach cramping and pain and then it started really bad at night when she was one, she would start screaming every night for hours and they went through all the colic treatments until they decided it was a gastritis, she was eventually tested at 2 for helicobacter pylorii infection, is there any chance this could be the case with Hugo? It causes stomach ulceration. She had vomiting too with no clear pattern to it. Maybe the bacteria feed off the fructose sugar? don't know, worth mentioning, the pains improved after 2 week tt, they detected it with a breath test after a fructose solution too but this time they tested carbon emissions.
The strange picture does become clearer as they get older and can tell you more how they are feeling and where it hurts, you seem to be at the point we were years ago.

You are his parent, you have to cope with it every day so you need to do what you feel comfortable with to get your answers.

[colormist]

Upset stomach within a few hours of ingesting fructose (it depends on how much as to how quickly it hits). My digestive tract tends to deal with the edible stuff first, then move onto the non-edible fructose. I usually don't puke. I do get kidney pain (pretty rough) a day later, too.

[ljs678]

So we have the fructose loading test tomorrow for Hugo. I am pretty apprehensive.

Will post with how it goes....

[meaniejean]

Best wishes to you and baby Hugo. I hope you get your answers and the testing isn't too rough on the two of you. Please be sure to let us know what happens. We'll be thinking of you guys ...

[charlie]

Good, luck with Hugo. thinking of you, hope all goes well

Charlie

[ljs678]

Hugo tested negative on the loading test today.

It was not so much fun for him; it took them 1.5 hours of sticking needles in him to get 2 working ivs. But there was no adverse reaction to the fructose loading, and there was no fructose in his urine afterwards.

I feel as though a huge weight has been lifted. Though we don't know what caused his problems with eating fruit and veg, we can now say it is not HFI.

The doctor today said in rare cases a stomach operation (Hugo had a stomach operation at 5 months, just a couple of weeks before I started him on solids) can make the stomach hyper sensitive to certain sugars, and that this might be what was happening. She wanted to talk to the surgeon and pediatrician and then will call me tomorrow, but she suggested that we can start to try Hugo with small amounts of apple or banana after a meal with lots of carbs (apparently this makes it easier to digest).

I guess we shouldn't be members here any more, but I will be eternally grateful for all the help and advice I have received. It has helped us to get through a very tough time.

We will stay in touch!

[charlie]

No, don't give up with the board, he obviously has a problem with fructose and sugars or you wouldn't have ended up here. have they followed the fructose malabsorbtion option where the protein to carry it across the gut wall is not functioning. Its a better option as less other effects. Also have they taken into account the fact that he has been off fructose for a while, would that have lessened the test results? Don't know, sounds like you are back to the drawing board a bit but if the diet worked then you must be on the right track to some extent.
At least you can relax a bit that he didn't have an adverse reaction although from my experience don't celebrate yet, Megs was fine after her fructose breath test even though the reading was off the graph but it kicked in big time by the next evening.
Anyway, stick around, its good having your company, you may need us yet.

Charlie

[meaniejean]

Hope you and baby Hugo are doing well. Please be sure to give us an update from time to time!