Mild HFI?

[jenna]

Hello,
Is there a form of mild HFI? And if so, what is it like? Does it involve milder symptoms or a higher tolerance level to fructose? Reading this forum, it does look like tolerance levels vary, but how much by?

My son's pediatrician has recommended testing for HFI, but we are ages away from getting the right referrals and appointments through. In the meantime I don't know what to feed my children, and really need some help and advice. I had previously thought fructose malabsorbtion, but my children don't do well with any fruits, I don't know about vegetables any more, and have recently noticed a link between surgery foods and bad behaviour for my son, who is 3.

I have a lot of questions, and really hope you don't mind me coming on here, even though I really don't know if it is HFI, FM or something else entirely.

The symptoms we get are sleep disturbance (waking screaming, or just very frequently), loose pale stools, and behaviour issues (poor concentration, disdestructive, no self control).Otherwise they are growing well, and healthy children. Does this sound like HFI?

I really hope you don't mind me posting all these questions! Thanks.

[charlie]

Hi Jenna, will answer you better tomorrow when more time. I do believe there are variants as to how much aldolase B they produce but still very limited. I have few more idea you need to follow to as your story very similar to ours but lookup CSiD / disaccharide deficiency especially in terms of behaviour changes . Speak more tomorrow

[jenna]

Thank you Charlie. I have just looked thst up, and it looks familiar, so I think I might have stumbled across it before! I am really keen to hear about your experience of it. I think I had previously thought it wasn't that because of the starch issues - starchy foods (including wheat) and dairy products are what my children seem to tolerate best, and from most of our diet. Then I go through phases of trying to introduce more veg, eggs or soya or something else we avoid, and after a couple of days they are suffering again. The information I found did suggest that some with CSiD can tolerate some starch more than others. How do you handle starch?
Thanks again for your help.

[jejns1]

Hi Jenna, your son's symptoms are just like my kids, especially my daughter. We have a working diagnosis of HFI but they has tested negative so far with Genetic Testing. Our doctor thinks they have it or something similar but the mutation is not known yet. Sleeping problems were a big issue, my daughter would wake up 2 1/2 hours after she fell asleep and this would happen almost every night. She has been fins since we cleaned all Fructose, etc. from her diet but if she sneaks something bad, the sleep issue will start a couple of days later and will last for 1-2 nights. She was also diagnosed with various behavioral problems like ADHD, mild Asperger's, and Childhood onset Bipolar. All of the things which led to these diagnoses cleared up after a month or so of following a Fructose free diet. It will flare also when sneaking food.

Starch is o.k. for them, they eat a lot of bread made by my husband, and a lot of milk and cheese.

My son has milder symptoms than my daughter so I would think there are varying degrees of HFI.

Our doctor is keeping an eye out for new things and hopefully one day we will have a definitive diagnosis.

Janice

[kate]

My girls are exactly the same but we are looking into CSID now. Carbs (rice, wheat, oats) form the majority of my eldest's diet but she reacts when starch is an added ingredient, ie reacts to hulahoops which have potato starch as the first ingredient but is fine with crisps made from potato. Her tummy is always hugely distended though and she is still quite uptight, both of which may be caused by starch but I'm not brave enough to try her off them.

My youngest is more severely affected and can currenty only eat meat, fish, white rice, oats and wysoy formula. I wouldn't rule CSID out as a diagnosis even if they are OK with starch.

[jenna]

Thanks everyone. I will definitely be looking into and asking the pediatrician about CSID when we finally get the appointment through.

It is so reassuring to hear that there are others out there experiencing the same thing. As my children are thriving in growth and development, no one would know to look at them that anything is wrong. Sometimes when explaining what they can't eat I really feel like people just think I have some sort of munchausen syndrome! I know sometimes children wake from bad dreams and growth spurts etc, and that all toddlers have tantrums and bad days, but I see a connection with food and consistent reactions. Other people's scepticism does get to me a bit.

Do you have any safe vegetables? And do you have to cut out all sugar, or is small amounts in things like bread ok?

Thanks again. Really glad of the support.

[jejns1]

I let the kids have a little bit of English Cucumber or Celery. Nothing else right now.

The scepticism thing is hard to deal with. I have gotten quite a bit of blowback from parents
of the kids friends. One family took my son out for a hot fudge yoghurt and when I flipped out
they roasted me out. Needless to say my son no longer goes near them.
People will give you are hard time, I don't know why, but I reached the point a while ago
that I don't care. I even had an Endocrinologist be rather sarcastic to me when my daughter
saw her in July and she did not want to believe me that she had HFI. We won't be going back
to her.
It seems like a constant battle, but don't let people give you crap. The difference for
your kids is worth it.

Janice

[fred]

Hi Kate

In one of your posts you mention that your daughters Tummy is very distended. A hugely distended tummy is sometimes a sign of an inability to digest gluten. If they haven't already looked at this, perhaps it would be worth checking her diet for that ingredient and then asking her Doctor about it.

Fred

[kate]

Thanks Fred,

That's interesting and I'm actually trying her off wheat for the next few days. I may extend this and go gluten free for a few days. I'm so reluctant to restrict her diet further but she seems ill around 70% of the time and has stopped growing so maybe it's something I need to try.

[Debra]

Hi,

I want to weigh in and make everyone aware that I have been diagnosed with a variant form of HFI and my symptoms are "milder" than the known form of the disease. My major symptoms were hypoglycemia, bowel irregularity, and sleepiness or general "crankiness" after eating sugar. Around the age of 35, I learned that I also had fluctuating levels of liver enzymes such as AST, ALT, GGT, Alk -Phos. Often these enzyme levels were slightly above normal and at other times they were 8 to 10 times normal levels.

By experimenting I learned that I had to remove all fruits, vegetables and whole grains from my diet to have all liver enzymes in the completely normal range and to feel my very best. I now eat Meats, fish, white rice, European-style artisan breads that contain no sugar or whole grains and all forms of dairy products. I take supplements daily to restore nutrients.

This form of the disease is not yet characterized or understood and I suspect others may be suffering and undiagnosed.

[jejns1]

Debra, that sounds like what my son and daughter have. It was frustrating to find a doctor to
admit that my kids had this problem. We have a good one now, just have to get other people on board.

[charlie]

Hi Debra, I agree with you there are alot of variants around, but the solution always seems to be in the diet and finding a safe diet that you can eat is the only way forward. We have tweaked Megs diet alot and now are definately on the right track with low fructose, low sucrose, low starch. Doesn't leave alot but what it does leave is a much more alert and bright child who is now occasionally getting dry nights.

I think it is only by everyone on this online community putting their sensible heads together that answers can be found. And by listening carefully to each others experiences.

The problem with the medical system is that there are so many diseases out there that research is only going to be done by a small amount of people into disorders like these as it is not as life threatening as many out there. Ok yes, full HFI in newborns is life threatening but these variant sugar malabsorption problems aren't so money isn't going to be poured into it. But by us all putting together what does and doesn't work is going to help future sufferers out there.

Glad to hear you are getting there.

Charlie

[Debra]

Hi,

I agree with Charlie that the way forward for each individual is to carefully and thoughtfully experiment with your diet.

While some might say that variant forms of this disease are not life threatening, I would argue that they are very serious diseases that are "quality of life" threatening. Rather than give in to any kind apathy, I hope to find ways to raise awareness of the seriousness of these diseases, start a foundation, raise money for further research and improved testing and protocols for pinpointing problematic foods more precisely and perhaps find treatments. I am enrolling in the University of Washington next autumn to obtain a degree in biochemistry and hopefully find guidance on getting a foundation started soon.

[4gotmylogin]

Debra,
How were you diagnosed with this variant? (How would someone get tested?) was it through the usual channels at BU??
TIA
-Cari

[Debra]

Hi Cari,

So sorry I did not reply sooner. I am very busy and don't get online often. I went through testing with a gastroenterologist and he could not find any test that explained my symptoms. Finally, I figured out that fructose was the problem so then the gastro helped me get the genetic test for HFi but it came back negative. So I asked for the liver biopsy and he sent my liver tissue to Duke University and they tested my liver enzyme activity levels for four different possible enzymes but I was normal or low normal for all four. I was very frustrated. I felt best with zero fructose but I could not "prove" that it was the cause of my problem. Finally, I consulted with a biochemical geneticist, Dr. C. Ron Scott at the University of Washington in Seattle. He confirmed that HFI is my condition but acknowledged that it is a variant form therefore I must be missing a different enzyme in the fructose metabolic pathway. There is no test yet for this variant form.