It's not HFI ...

[meaniejean]

... but we don't know what it is ...

Judging from the fact that we are all tolerating homemade pasta sauce, pumpkin bread and broccoli, we are pretty confident that we do not have HFI.

We are currently waiting for test results concerning Fabry disease and Lysinuric Protein Intolerance. I am also still very suspicious of FDPase deficiency considering our problems with the fructose hydrogen breath test.

Calvin is enjoying eating broccoli for just about every meal ...

Hope all are well!!!

-Sandra

[CJSculpts]

Wow. Not sure whether or not to say "Congratulations." I get mixed feelings myself every time that I get a confirmed or eliminated diagnosis.
I hope that I am not overstepping my bounds here but, please do keep us informed. Besides that you have a whole family that needs to fell well, my opinion is that it would be helpful to all who come here to be knowledgeable about other "masquerading" diseases. While this board is obviously a support board for actually HFIers, knowledge is power. With these small, esoteric disease/syndrome groups, the more knowledge spread, the better. If everyone else disagrees, then I personally would really appreciate receiving private updates from you.

Good luck!!

[meaniejean]

Thanks.

We often feel the same way here in our house. We want to know what is going on, but some of the ideas that have been offered up lately are not settling well. I was really hoping for a straightforward fructose intolerance, but it is apparently more complicated than that. But to be honest, the new ideas make a lot more sense and actually explain a lot of the health issues in my family. We were supposed to have an answer last week, but one of the test results is not back yet.

The Fabry's Disease test was the geneticist's idea. Apparently it is a systemic disorder that can cause a lot of GI problems. She recommended the test because Calvin gets burning pain in his hands and feet. I'm assuming they don't suspect gout or arthritis because there is no outward sign of swelling or inflammation. I also have a family history of vascular problems which are common in Fabry's. Of course, it just has to be a rare disease, right?! Something like 1 in 40,000, like HFI - grrrr!

We know we do better on a low-fat, low-protein, low (but not no) fructose diet, but we don't know why. So, while we wait for an answer, we at least are having happy days at home and the kids are healthy.

I will be sure to post whatever I find. I have been thinking of starting a thread called "HFI Differential Diagnosis". No sense in making others who find this site reinvent the wheel!

Best to you all!
-Sandra

[CJSculpts]

Sandra, I just came across this:
en.wikipedia.org/wiki/Organic_acidemia

It may or may not be applicable but I figured that I would run it by you.

-CJ

[meaniejean]

Ummm .. so I really don't know what is going on, but we have to stop eating sugar again ...

I really wanted it to work, but we all seem to be going downhill. Calvin is refusing pumpkin bread, broccoli, tomato sauce, and seems to be having some bad reactions to sucrose (it was in some yogurt). A few berries seem to be okay. Almond butter is still fine. We haven't tried meats again. Sawyer reacted very poorly to the antibiotic he was just on (it was flavored/sweetened because we thought it wouldn't really matter and we needed him to take it).

Fabry's test and Lysinuric Protein Intolerance tests were negative. I am thinking of having my liver biopsy repeated (by someone who knows what they are doing this time!)

I really thought we were done with this, but apparently not ...

Wishing you all health and happiness,
Sandra

[charlie]

Hi Sandra, have you checked out the malabsorbtion idea yet, Megs does seem to be getting somewhere since we cut out the fructan sources in wheat, I haven't tested her back on anything yet but if that is the answer then she may be OK on some fruit and veg. Do you use wheat much, maybe worth cutting out if you do for a while, but again, watch for hidden sources. The dietitian sue shepherd does seem to have some good ideas on it

[meaniejean]

Thanks, Charlie.

Actually, we were gluten-free for awhile without too much change. Right now we are leaning toward a uric acid disorder because of the meat issues and the hand/foot pain. Also, too much fructose causes a build-up of uric acid as well, so it kinda fits. My fructose test showed that my plasma uric acid went up by 25% during the test - and that was just from the equivalent of drinking about half a soda. I can only imagine what it would have done with meat.

We have appointments at a big hospital in Massachusetts early next month, so I am hoping we will get somewhere with that.

I am SO glad that Megs seems to be improving!!! That is great!

Take care,
Sandra

[meaniejean]

Oh - Charlie - I also meant to mention that yeast extract products like Vegemite, etc. are a huge purine/uric acid source.

In fact, we have noticed problems with things like Goldfish crackers that have yeast extract in them. We tried so many variations of cheese crackers, including HFI safe ones. And every time Calvin and Sawyer both had big problems - wetting, screaming, reflux, vomiting ... I thought, hey, they both do fine with mac 'n cheese, so it can't be the annatto or the cheese powder. When I made the comparison, I found that the crackers all have yeast extract in them. Then I looked up the purine content and apparently yeast extracts are one of the worst things you can eat. Chocolate is pretty bad as well, which is something we continue to have HORRIBLE reactions to.

Anyway, just a thought ...

On a positive note, Calvin's school said that he had a great day yesterday. They were watching him very carefully because he was having a flavored yogurt. I was hoping that he would do better without the Goldfish crackers, and it looks like it really could have been the culprit.

Keeping my fingers crossed ...

-Sandra

[charlie]

Hi Sandra,
I must say I've been suspicious of marmite / vegemite, the ingredients used to read yeast extract and salt etc, now I see they have added vegetable extract to the list. Bummer cos Megs lives on marmite so to stop that is really hard, as so much else is cut out I let her have a tiny scrape on her snack sandwich (now wheat free of course)

Sounds like you ar on an up as well, I don't get too excited until its lasted for several weeks as each time I think "I've cracked it" we plummet back down again!!!! Good luck with the hosp appointment.

Sorry to harp on with the gluten free but did you use cornbased products instead as they may have reacted to those, alot of gluten free is maize based so you may have to avoid those too, and onions, artichokes and another few weird things. I don't think megs copes with corn.

I have posted in the next section an update on megs I am getting rather excited but keeping fingers crossed.!!!!!!!