Confirmed DFI in 31 month old...could it be HFI?

[mdhammers]

I am hoping I can tell a little of my story and maybe some of you that have more experience in this area (even more that most doctors) can lead me in the right direction.

My son DaKota has had chronic diarrhea, gas, bloating, and stomach pains since birth basically. Now since on solids all the above symptoms and with foul smelling stools and stools that will burn his skin in a matter of minutes. He had jaundace within the first 2 weeks of life (I know that is sometimes normal). I breast fed for 21 months. I have tried formula, but he could not tolerate any that the doctors put him on and after 3 months from birth, I stuck to only breast milk. Of course shortly after I went to only breast milk, (even though I thought he was still having diarrhea, the doctors said it was normal for BF babies) he started solids.

DaKota's dad is DFI. He is not in our lives much yet. So I had no guidance, but did the best that I could. If it caused watery stools, I would not give him anymore of the foods. I gave up on baby food and started pureeing (sp) only fresh cooked vegetables and only grapes and bananas. He still had very loose bms, but not always watery. The peditrician stated that it was toddler diarrhea and if it was still going on at the age of 2 that then we can look into it (even though he has never had proccessed foods, pre prepared foods, and no fruit juices). He had to live with it.

He has be diagnosed with failure to thrive. He has had a colonospocy (sp) and endospocy(sp) and ruled out celiac disease and others I don't remember. On accident one day he did not get any of the grapes or bananas and bm was more normal for a change. So the doctor states that he has fructose malabsorption. On a strict fructose free diet, he his finally doing much better. There has been a dna test which is negative.

I was told by the metabolism doctor that DaKota could not have HFI or he would have been diagnosed as an infant and if not he would be dead by now.

Now here are where my questions start. Could it be possible that on a limited diet that I have kept him on since being an infant keep HFI symptoms from being so life threating? He has had low sugar levels (70 in am and no more than 100 through out the day and now 130's during the day since no fructose), but I had to test them on my own with a test kit. Even though he had a 68 one time in the doctors office 45 min after eating brown sugar in his oatmeal, he said he was not worried about it. Does the sugar in your blood get affected in DFI? He can not even tolerate small amounts of raffinose or inulin. Basically his stomach gets torn up with ANY seed bearing foods. Are symptoms so severe with DFI?
Is it possible that with his dad being DFI that his chances of having HFI may be higher?

I am going for a second opinion on Sept 3rd at a different hospital in a different city. What questions should I ask? I am going to request a fructose test. Would it be safer to have the IV test instead of the hydrogen breath test? Is there any other tests that can be done? Has any one else had a liver test in such a small child without major complications?

I do hope someone can give me a little more insight. I feel that there is something more that just DFI (which is now called fructose malabsorption), but don't want to be taken as an over reacting mom.

I know this is long, but thank you so much for taking the time to read.

[meaniejean]

mdhammers,

Welcome to the board. Whether DFI or HFI you have found a great resource for navigating the diet that will help DaKota thrive.

It is certainly possible that DaKota has HFI. As you may have read on this board, many people were diagnosed later in life without ever having life-threatening events along the way. Unfortunately, medical professionals are typically only introduced to the very extreme cases and miss those cases where fructose was restricted by the parents in infancy.

It seems that DFI can be quite severe in some. From what I have read it tends to be more severe in people with underlying GI or systemic issues.

Please DO NOT have DaKota do the hydrogen breath test. It took my son months to recover from the test (GI bleeding, urinary and bowel incontinence, lethargy, muscle weakness, etc). Take a look at the "Dangers of Fructose Malabsorption Testing" post in the links section.

What I can recommend is that you keep a detailed daily journal of food intake and symptoms. I wish we had done this back when Calvin first started having trouble when he was weaned from breastmilk.

Best of luck to you at the upcoming appointment. And feel free to hop on here and ask any questions you may have.

Best,
Sandra

[Tammy]

I agree with all Fred's thoughts, but just thought I'd throw a name out there for Fred's failing memory..........lol.

My Regina was dx with a liver biopsy when she was 2. A long time ago now. But the one Fred may be thinking of was Chelsea's daughter Gillianne. They were postive it was HFI or FDPase or something. One of her Drs wasn't even really in favor of the surgery because he was so sure. They went ahead with it on the advice of other Drs. Turned out she DIDN'T have HFI or anything similar. She was very glad she had it done as they then knew to keep looking for the real culprit. She was very glad she went through with it because if not, there may have been more damage done by not knowing what the real problem was. The last she posted on here, they were re-introducing some fruits and she was doing well on them. Still looking for answers though, too. I hope she's found them.

[mdhammers]

Thanks so much for your responses!

Sandra:

I kept a food diary for six months! Detailed food diary with times and amounts of food. Weights of diapers and detialed description--kinda gross, but did what I felt was necessary. DaKota's doctor kept them, but never said anything "based" on that food diary. I wish I had of kept copies, but I am sure that they are in his file. I also read that article and it does not sound like the "best" choice.

Fred:

I agree that I should keep him on the diet. He is doing great with weight gain and the stomach problems are not as bad. The only thing with the diet, you have people who seem to think that one piece of bread is just a little and a little should do no harm. One piece of bread will make him ill for 24 to 36 hours if it just has brown sugar in it. That is how severe his symptoms are.
You are right tho! That doctor did have an extremely big "ego".

Tammy:

Thanks, I have been told by most family members that DaKota has been diagnosed as Fructose Malabsorption and to just leave it at that. I do know that I want to make SURE! I will be fine with any diagnoses, I just want know without a doubt what I need to do to make sure he grows up healthy.

[adj]

You may have figured it all out by now since this post is almost a year old, but in case you are still looking for answers ....

Have they ever done a dissacharide enzymes biopsies test when they did a SMALL bowel endoscopy? From your symptoms it could maybe also be a problem with some, one or all of the dissacharide enzymes. A problem with these is often called CSID, or congenital sucrase isomaltase deficiency (also in the extremely rare category). Diagnosis is currently only done via small bowel biopsy. The genetic test is not commercially available yet, but does exist. Intestinal symptoms with CSID are pretty severe and dramatic.

My one daughter had CSID (no sucrose diet and very restricted starch/net carbs diet coupled with an enzyme replacement medication for sucrase), while my other one has been diagnosed now with Fructose Malabsorption. My FM kid has never had SEVERE intestinal symtpoms however, YET she has always kind of followed the no sucrose and low starch diet at home. Lamentably we did use fructose as a sweetener. She is just now starting on a fructose restricted diet and soon will go on fructose free after surgery.

My FM kid has diarrhea and vomiting but not severely. Her more significant challenges are that She is about 1 to 1.5 years behind in her development and growth and sleeps and urinates too much (she is 3.5 years old but looks and acts like a 2-2.5 year old). My CSID kid was affected in her growth as well, but she did not sleep at all.
I've wondered about my FM kid really having HFI instead since her more concerning problems are not gastrointestinal. Is a generic test the best and most comprehensive test available ( better and less invasive than blood challenge or liver biopsy)? Her reaction to the hydrogen breath test was severe intestinal symptoms, little sleep and much crying and then 2 days of lackluster looks, more sleepy and more whiny-demanding (she is usually a very happy kid, almost too happy)
Any help or ideas?