Disappointing GI Visit

[meaniejean]

Well, I went for my GI visit on Wednesday. I think I have been too disappointed to even post about it.

I know I shouldn't be surprised, but they didn't know anything about HFI - they kept thinking I was talking about dietary fructose intolerance or malabsorption and even that they didn't seem to know much about or believe I could have it.

Anyway, I am scheduled for an upper endoscopy to check for damage and celiac disease - I explained to them that I was on a gluten free diet for about 9 months without ANY improvement, but ...

They also sent me to a lab for some basic blood work.

I mentioned the liver biopsy - they stated that it is a risky procedure and the treatment would still just be stay away from fructose. I feel defeated. I was really hoping to have some answers before my birthday at the end of April. Oh well. Hey - maybe they'll find out it is something else and I can enjoy fruit again - oh wait - I DON'T LIKE FRUIT!!!

I'm starting to contemplate figuring out a way to pay for the genetic test on my own ...

[CK]

Hi,

I also have celiac disease, and my GI doctor at the Mayo Clinic says that the tests won't come back accurate if you have been on a GF diet. He recommends 2 pieces of wheat bread daily for 2 months before a celiac test is done. I don't know if they recommended this to you, but I thought I would pass this along so you get an accurate test.

[colormist]

I still find it hilarious that the only way to test for celiac's disease is to continue eating the thing that causes you pain to see if it's causing you pain. *sigh*

No chance of finding a Geneticist in your area, Meaniejean? They, at least, should know of HFI.

[millan]

So sad to hear you're not getting anywhere.
As for getting the genetic test - move to Sweden. ;D Then you'll get to do one for free! (Well, almost.)
I just paid for a doctor's appointment (which normally is, oh, maybe ten or twelve dollars) and he sent the blood sample away to be tested (to England I think). A few weeks later he called me up and informed me that they'd found two different mutations.
Now, I was diagnosed as a child, so this test was only done because both me and my doctor thought it would be interesting to see if I had one of the more common mutations or not...
And than I read about your difficulties and it makes me want to cry...

[charlie]

Hi Sandra, that is such a shame you had a disappointing visit, I know exactly how you feel. However, I have had some deep chats with a friend and this is the advice they gave me which I will pass on to you.

You are the only one who knows how you or your children feel and react to things, and you need to be guided by this to keep healthy and happy.
Yes, you want definitive answers BUT what is the treatment at the end of the day - the same as you are doing at the moment, a very restrictive and careful diet. At this present moment there is no magic medicine they will prescribe once they have the diagnosis. If they are prepared to keep checks on yours and your childrens liver and general systems then maybe it is time to relax and stop stressing about it, stick to the diet advice, refuel and see what happens. The worry, and the constant backwards and forwards and wondering is very very mentally exhausting and can lead towards a breakdown, I know because I have nearly been there and trust me I'm usually very laidback.

Trust your instincts and as long as you aren't ignoring essential medical advice then go with what your body feels is right for at least 6 months, let your system settle and strengthen and then maybe try reintroducing a little thing and see what happens.

I know, like you we like the problem clearly labelled but sadly at the end of the day all it does is verify what we already know, that this limited diet is the solution.

This isn't meant to belittle your concerns at all but I know since that chat I have relaxed alot more and just got on with it, helped by the fact that she is more or less sleeping at last, thanks to that tip off about eggs things seemed to have improved alot so maybe that was the last thing slipping through

Good luck, keep positive and most importantly keep healthy

Charlie

[ljs678]

Yes but what if there is no follow up if you have no diagnosis? That is what we are facing here.

I know there are lots of people here who had no diagnosis until they were adults, but if you had the choice to give your baby the medical monitoring, you would take it, wouldn't you?

That is what a few of us are dealing with here.

[Tammy]

Hi All,
I agree with Charlie and Fred in that it is the right attitude to have. Learn to live your life the way it needs to be.

But with that said, also keep in mind that a diagnosis is still the best. I don't think it should be agonized over to the point of being stressful, just keep at the doctors until you eventually get one. Figure out your treatment that works for you, and keep daily logs until you figure it all out. Then take your facts back to the Drs and make it stressful for them until they cave in to you. lol.

The reason I'm so for having a true DX is because, at least here in the states, our insurance for our healthcare rules everything. And the insurance will not co-operate without it being a confirmed diagnosis. When Regina was very sick and in the hospital for a lengthy visit, she was put on a feeding tube for a short time. And guess what the feeding formula had in it? Yep, sugar. They found an alternate formula that was HFI safe (safe by my approval also) but of course it was a much higher price. My insurance company would not approve the more costly one without the confirmed HFI. When I say costly, 4 years ago it was over $1000 a bottle - not something I could have paid for out of my pocket. This is just one example. I have run into this type of thing many times over the years.

So by all means, don't stress out over it. Get yourself and kids healthy and happy first. Get all your facts over what works and what doesn't work. Then go and stress out your doctor. lol. I think you eventually need a DX, but you don't need it today.
Tammy

[charlie]

Thats an amazing cost Tammy, yes that would make sense that you need the definitive diagnosis for that, we don't have that problem with the NHS and they have put on Megans file HFI according to the GP so hopefully they read that, although I don't hold my breath!!! We just have to double check everything incase.

the log works really well, I keep a detailed one on Megan now every day and it does clarify patterns of symptoms as days do tend to blur into one. Then I can give it to the paed on our next appt for some bedtime reading. LOL.. yeah yeah, like she's going to read it!!!!

[chad]

I have a similar experience of negative for celiac upper gi endoscopy.

It seems like most adults who end up realizeing it is this think it is celiac disease at first since the celiac message has gotten it self out there in the last decade or so.

One blogger named acoustic eagle on another site says hospital staff in Australia acted like he was just being fussy about food when he said he had HFI.

An then there is the indignity of being told it is all in your head that happened to me at least once.

[meaniejean]

Thank you all for your replies. I totally agree with the keep eating what works for us. We have absolutely no intention of broadening the diet. In fact, I think we need to get even a little stricter if that's possible.

I also agree with Tammy that it is important to obtain a diagnosis - especially here in the US where the insurance companies serve as the gate keepers to the medicines, etc. that the kids might someday need. I also found that in the hospital the doctors just think you are being picky unless you have a solid diagnosis in the records. Calvin has a DFI diagnosis, but that means they still think he can have sugar or low fructose fruits and vegetables - that's a problem.

The other issue is that since we have reactions to such small amounts - amounts that others on this board seem to do just fine with, I worry that perhaps we are missing something. This recent round of cystic fibrosis testing is kind of an example of that. I think I read on here a story about a little girl where the docs were sure she had FDPase or HFI, but a biopsy proved it wrong. I don't want to miss the opportunity to treat what is going on if we are wrong about the HFI.

Regardless, we continue with the diet as it is the only thing that has worked. Is it possible that we have celiac as well - I guess, but I think we would be in REALLY rough shape considering our current bread-based diet!

Calvin does at least have malabsorption and that is on his file. I believe they have written down HFI for Sawyer as I saw that listed under diagnosis on one of the sheets when we were checking out of the GI one day. I am keeping my fingers crossed that something is written in there, as he never had a fructose breath test done like his big brother did - and I obviously would never let them do that test on him after what happened to Cal. I still feel like he hasn't been the same since.

Thanks for all of your support. We have a genetics appt in April and hopefully they will know something about HFI. We also have the CF testing next week ... I will let you all know what comes of it.

Thanks again,
Sandra

[meaniejean]

A quick update -
Calvin's most recent sweat test was well within the normal range - actually very divergent from the past test. I did some research and found that people in an immunocompromised state will have inaccurately high test results - which makes sense in his case since he had critically low WBC count just a few days before the test.

We are now trying to get Cal's GI doc to help us direct my GI doc in testing for HFI - rather than go through more months of jumping through hoops with various unnecessary tests.

All the best to you all,
Sandra

[CJSculpts]

Question: Why would th egenetic tesing not be covered by insurance???

[colormist]

Mine wasn't covered by insurance, either. My geneticist proposed we say the genetic testing was used to determine if I had hypoglycemia and the cause of it--or something along that line. Since you have hypoglycemia, maybe you can coerce your doctor into billing the test that way, too.

Not exactly sure why it wouldn't be covered. My guess is that it's an uncommon genetic disorder and it costs a lot of money to run the test--so they'd want to do a lot of other tests (which involve you drinking fructose and seeing how you react) first as they are cheaper. Plus, if you have HFI, it's not like there's a cure for you, so the testing is for informational purposes only?