|
|
Post by antonia on Jul 7, 2019 12:08:45 GMT -5
I hope you find your answer as well. Everyone deserves that. You mentioned in another thread you would do testing through Baylor. My understanding is they will test for some of the more rare mutations (beyond the most common 4). Our children’s hospital only ran sequencing analysis. Duplication/deletion testing was not approved because geneticist said since sequencing came back negative (and she didn’t produce lactic acid), it was statistically impossible for her to have HFI. Baylor does both sequencing and duplication/deletion tests, so make sure you have both done.
I’ve become so frustrated with doctors at this point we just don’t go anymore. It’s pointless. Since Palmera doesn’t fit into their perceived diagnostic box for anything, they don’t even acknowledge her intolerance to fructose. I have an emergency letter from our geneticist that does not mention a word about fructose. I just can’t anymore. Our first and last appointment with him, it ended with me asking, how can I find out if fructose is the cause for her metabolic distress? His answer, just give it to her. Then I asked where do we go from here? His answer, let’s just wait until she gets sick again, because she will, and we’ll take more labs. Well, we haven’t been back to the hospital, because we’ve kept her fructose free! And we’ve also learned how to manage her better during illness and keep her metabolism stable under those conditions as well.
|
|
|
|
Post by tummyache on Jul 7, 2019 17:54:32 GMT -5
We had to pay over $2000 to run ALDOB (HFI) + FBP1 (FBPaseD) genes at Baylor Adult Genetics Clinic because our Humana insurance refused to pay, probably because of my advanced age of 76. I think it is very unfair but was fully expecting their refusal here in the USA. I wish we has universal coverage like other advanced countries...someday the USA will be a 1st rate health care nation too. I don't know for sure which tests they are running, but for $2000+ they assured me it would be complete. Unfortunately, the tests were not run in time for our return to Panama on July 2nd -- so now I sit and wait until we return in the fall to get the results. I actually was diagnosed in 1973 with FBPaseD using lymphocytes -- but, the medical folks want it verified.
|
|
|
|
Post by antonia on Jul 12, 2019 8:38:08 GMT -5
If I were guaranteed an answer I would spend that money in a heartbeat for Palmera. However with so many unknown mutations, I fear we’ll be throwing money at nothing once again. I do wish we had gotten her tested through Baylor from the get go. Have a great time in your travels and keep us informed on how it goes!
|
|
|
|
Post by tummyache on Jul 21, 2019 8:47:19 GMT -5
Got a phone report from Baylor [they won't send emails unfortunately, so will be fall before we are in USA again, and see full report]:
FBP1 [FBPaseD] = didn't find anything significant (I was diagnosed with this in the 70's)
ALDOB [HFI] = found 1 Minor SNP -- when I looked it up, I could find only one reference to it, found it was released only about a year ago (2018), and only considered with "uncertain significance" for HFI.
In all, not a very satisfying result. Evidently, they are still discovering these SNP's. The person I talked to said something about their liking to see 2 pathogenic SNP's for a firm HFI diagnosis. So, I came away from this experience poorer and somewhat let down and disappointed. Still don't really KNOW, for sure, a DX.
|
|
|
|
New Member
Jul 21, 2019 13:07:08 GMT -5
via mobile
Post by antonia on Jul 21, 2019 13:07:08 GMT -5
I’m so sorry Tummyache. I so feel your frustration and disappointment. ❤️
|
|
|
|
Post by ukbill on Jul 31, 2019 16:40:42 GMT -5
I think the costs of a genetic test by Professor T Cox in Adenbrookes university hospital Cambridge UK is well under $2000! Tim Cox discovered the 1st HFI gene sum 40 years ago and he is still working on the subject now! I think he has discovered 4 or 5 now one of them is so rare its only been found in one individual. So he is the "man" to go to. more expense unless you are a UK citizen however.  hope this helps? Keep smiling |
|
|
|
Post by Stefanie (Ziba) on Aug 2, 2019 18:13:29 GMT -5
Regarding ferritin, my little guy was born anemic and has had low TIBC (total iron binding capacity) and high ferritin at certain times. I am convinced there is a connection between his hematological symptoms and his defect in fructose metabolism even if researchers have not made the association yet. Afterall, bilirubin is produced when red blood cells are destroyed. And, fructosemia causes high bilrubin!
|
|
|
|
Post by rysmom14 on Aug 5, 2019 6:50:32 GMT -5
Ziba, that interesting about being anemic. my son also has issues with iron. He has been on and off supplements. He docs kept asking about his red meat intake, and while he isn't eating a ton, he eats it a considerable amount. He may have it 3-4 times a week ( we are on a meatball kick) so they thought that it would be a problem as he got older and the volume increased.
I'm convinced its linked too.
|
|
nancy
New Member
Posts: 27
|
Post by nancy on Aug 5, 2019 14:45:38 GMT -5
I do believe anemia has to do with our digestive tract and our microbiome. Because of my carb and protein diet (white rice, white flour, and chicken), I tend to get a yeast overgrowth in my stomach causing me to have low stomach acid, which in turn can cause me to not absorb iron as well as I should. I take a separate (otc) iron supplement since my multivitamin contains calcium and can block the absorption of iron. Also, I read a research paper that said that there are certain parts of the ALDOB gene that are associated with anemia. I am convinced that there are a lot of other problems that HFI causes in the body, not just in the intestines, kidneys, and liver.
|
|
|
|
Post by ukbill on Aug 12, 2019 21:25:27 GMT -5
Only if you do not follow a tight enough diet! keep clean and you will be fine although the improvements takes time to happen. 6 months or more depending on the level of damage that has been caused by eating "tolerated" foods.
|
|
nancy
New Member
Posts: 27
|
Post by nancy on Oct 10, 2019 11:56:45 GMT -5
Hi, I have lost 1 more food that I can no longer tolerate, wheat. I thought it might be gluten in the wheat, but I read that wheat contains fructans and that can cause celiac disease. I started having watery diarrhea several weeks ago, and I guess I just did not want to accept that it was wheat. Now I'm living on white rice and chicken. My gastro doctor is like Antonia's pediatrician. When I went to see her back in June, I reminded her that I had HFI and told her what I was eating. Her reply was that she knew that I thought that what I had was HFI and that she was concerned because my diet was so restricted. My diet is restricted because if I eat anything containing fructose, sucrose, sorbital, or polysorbate I get pain under my sternum and liver plus diarrhea and insomnia. To say she irritated me no end would be an understatement, so I can understand your annoyance. All my doctor is good for is doing colonoscopies and endoscopies.
|
|
|
|
Post by antonia on Nov 4, 2019 13:54:06 GMT -5
Nancy, well you are not the only one who does not tolerate wheat in addition to fructose. I have always considered this a separate condition from HFI for my daughter. Lately, however, the people I’m hearing who have a wheat intolerance or allergy in addition to fructose intolerance have also tested negative for the known HFI mutations. Coincidence or no?🤷♀️
I make tons of wheat free, fructose free baked goods for my daughter. Feel free to message me and I’ll share with you some safe flour options and recipes.
|
|
