How were you diagnosed?

[buddhasbelly]

Hi Susan, sounds like we both had a good encounter with medics this week! Esmee is also waiting for her DNA results, just like me, and you will be too soon. That is such exciting news, congratulations for getting the help you need and deserve!

[jennifer]

Susan,
we received a message fro Dr. TOlan this week(we are also trying to have my daughter tested). He said they are planning to run the next batch in the next two weeks. Hopefully you can get in on that one.

[Chris]

Hi folks,
I'm a noobie and thought I'd introduce myself here. I'm 42 and was medically diagnosed by Prof. Tim Cox last year (Addenbrooke's - Cambridge) following genetic testing.

I was very ill as a baby (less than my birthweight at 3 months). I was formula fed (which then contained sucrose) and lost weight and turned yellow (jaundice from liver failure). I was in hospital all that time and the medical team were adding extra sugar to my feeds as I was failing to thrive - aaaarrrrgghhh!

As I was getting worse and worse the hospital allowed my mum to take me home for the weekend before referring me to Great Ormand Street hospital for sick children in London. Out of desperation my mum fed me beef, gravy (not recommended usually as high salt can occasionally kill babies!) and milky tea - I improved. The hospital sensibly advised her to keep doing what she was doing. I lived! - hurrah! HFI wasn't even on their radar!

I grew up over-weight (understandably rebound overfed by my mum) and the one who doesn't like sugar. I remember peer pressure making me eat a fruit salad aged 6 - vomited it back at half an hour.

During a biochemistry lecture at University in 1989 I self-diagnosed myself from the history. I didn't go to a doctor as I was worried it might affect future life insurance & understood there was no treatment other than avoiding fructose.

Last year I thought I'd better get diagnosed properly, partially as I was fed up of people thinking I was a self-diagnosing fruit-loop, partially as I'm now a father, older and don't want to die any time soon. I Googled HFI.

Its clear that HFI should usually be diagnosed by genetic testing now. It's entirely safe and relatively inexpensive and as I understand it will identify more than 75% of cases of HFI.

Fructose tolerance tests and liver biopsies for diagnosing HFI should be reserved for those who have had negative genetic testing I believe as they both have a very small but significant mortality rate.

I asked my GP to refer me to the local medical genetics department who took blood and sent it to Addenbrooke's (the only centre for HFI (and genetic testing for it) in the UK). They identified I had one of the 2 commonest mutations in people of european descent (p.Ala150Pro, p.Ala175Asp) and the geneticist arranged for me to see Prof. Cox in Cambridge on the NHS.

He explained to me that scurvy is uncommon in people with HFI - but much more common in people with HFI than the general population and advised me to take daily Vitamin C supplements for life. He also pointed out that my mother saved my life by feeding me beef and gravy. He explained that HFI is still commonly missed by paediatricians in all countries as its rare. Prof. Cox explained that he headed the team in the UK which was involved in identifying the genes responsible and hence genetic testing. He has been lobbying the department of health to include testing for HFI along with Phenylketonuria (PKU) on the heel prick test done at 5 days old in the UK. However the department of health say its too expensive. I hope that these days HFI presents later - 6 months - as breast milk's safe and now normal formula is. However 6 month olds can still run into big trouble.

Its great to "virtually" meet people with the same problem. Its so rare most people think I'm just an ultra fussy eater.

I feel I'm fairly well educated on HFI but I'm learning a lot from the forums. I hope to remain a regular follower and contributer.

Best wishes.

[colormist]

Chris, welcome to the forum! It's great to hear your story. Your infant story is very similar to another's on the forum, but I can't remember whom.

Bill also lives in the UK. I think there might be a couple others.

[charlie]

Hi Chris,

we are awaiting our test results from Addenbrookes, so far lost somewhere between Epsom and Brighton........ Good old NHS (but musn't complain as it was free)...........................

We have been bouncing back and forth since Megs was a baby re HFI, FM or something else so when I discovered via a google about something else that Addenbrookes tested for it I was straight on to them and very impressed how quickly they emailed me the forms which I duly presented her specialist with...... just got to wait for the results.

Looks like the UK is finally waking up to fructose problems as there have been a few new members here and on the FM board from the UK...... Lets get the word out there.

[tummyache]

I was diagnosed in another way through lymphocyte testing at the U of TX back in the 1970's. Since then, Clayton Foundation Biomedical Research Group is no longer functioning. However I think, they spun off the Lymphocyte Proliferation Test to a company called SpectraCell Laboratories [ www.spectracell.com/ ] The researchers at the time were pretty sure I have a congenital fructose intolerance. If so, mine is probably milder than some on here as I can tolerate a small amount of a few fruits [particularly 1/4 cup raspberries or strawberries or 1 tangerine on special occasion] + most vegetables, with few exceptions. I've always had an aversion to sweets, no tooth decay until jr. high school and then only pits as they didn't have sealants in those days], nausea with ingestion of sugar, and hypoglycemic problems at times. Have had a history of tremors, also strange reaction to injected meds with sugar as a base.

UPDATE: Recently have found medical literature mentioning lymphocyte testing as diagnostic for FBPaseD, the 3rd kind of Fructose Intolerance. If so, Clayton was very early doing this...and what I can't find out is if their testing was the same kind as what has recently been "discovered". Interesting?? So, maybe that explains why I can sometimes tolerate a wee bit of fruit? I REALLY want to get someone to run my DNA and find out now if what I really have is FBPaseD.

July 2019 --finally got a doctor to order DNA for ALDOB + FBP1. Now awaiting results. Costs over $2000 --insurance refuses to cover probably due to my age of 76 yrs!

[colormist]

Hi Mazian,
Putting fructose into an HFI body is very dangerous and the damage is (more often than not) permanent. It could result in liver failure, kidney failure, and/or coma. I'm curious as to why you have not tried the genetic testing yet?

Here on the forum, if HFI is even SUSPECTED, we tend to encourage parents and potential-HFIers to pay for the genetic test first to possibly rule out HFI before proceeding with any fructose-ingestion/injection testing.

I don't intend to sound mean or rude, but I am very concern with the amount of fructose-related testing your daughter has undergone--especially if you suspect HFI. The fructose test doesn't confirm HFI, it only confirms fructose malabsorption (or dietary fructose intolerance) so the fructose-challenge tests should only be performed after you have completely ruled out HFI (due to the danger it presents to people with HFI).

[ukbill]

100% right Colormist

I notice her posts have disappeared.. what was she planning?

[colormist]

I think Johnystrong is a bot/spammer. He clearly doesn't know anything about HFI.

[Debra]

I realized in 1995 that something was really wrong with me and spent 12 years going to primary care doctors, nutritionists and naturopaths but they could never explain why I had chronic constipation, hypoglycemia and fluctuating liver enzyme tests or days where I felt exhausted in spite of plenty of sleep. The naturopaths would constantly try to tell me it was gluten even though I did not feel better on a gluten-free diet.

I finally decided to try a gastroenterologist. He gave me a genetic test for celiac disease and every test for every possible liver disease. All results were negative. A liver biopsy came back "normal".

Then I told him to test my liver enzymes now and then I would adhere to a gluten free diet for one month and then we would test my liver enzymes again. Well, after one month on a gluten free diet my liver enzymes soared to over 10 times above the upper threshold for normal. He had no explanation for why this happened but told me that I should come in every six months for liver tests.

I realized something in my diet had to be poisoning me but I had no idea what it might be. So I tried an experiment. I went to a health food store and bought the lowest sugar fiber bar I could find and tried eating between 1 to 5 per day in an attempt to have proper bowel movements. I did not have bowel movements and instead I became weak, tired, my ligaments in my hands and legs became tight, and it culminated in a kidney infection. That's when I realized that the problem was spreading from my liver to my kidneys. So while taking antibiotics for the kidney infection, I sat on the couch reading every "Inborn Error of Metabolism" from the NIH website and when I read HFI I realized my problem might be fructose.

I reread the HFI description for the next month and a half wondering if this could be the diagnosis while I just ate like a "normal" person because it was November through December and with all the holidays I just wanted to eat like everyone else.

I felt terrible all through the holidays so on Saturday January 1, 2007 I decided to try eating nothing but chicken and white rice all day for a week. A friend had told me that her doctor had recommended such an approach when she was trying to figure out what foods she was reacting to.

Within 6 hours of eating only chicken and rice I had a massive bowel movement and began to feel progressively better. I was certain I had HFI. On Monday morning, I called or emailed every nutritionist, naturopath and doctor I had worked with for the last 15 years and told them I had figured it out. I made an appointment with the gastroenterologist in hopes of confirmation.

The gastroenterologist resisted at first but I gave him all the info on Dean Tolan's lab at Boston University. He contacted the Tolan Lab and they agreed to give me the genetic test that came back negative. So the gastro gave me another liver biopsy and just going through the procedure again was "proof of HFI" because I was now on a low fructose diet I responded completely different to the drug I was given during the biopsy. During first biopsy the drug knocked me out for two hours and I felt miserable for two weeks after the biopsy. Undergoing the same procedure on a low-fructose diet - I reacted the differently to the drug. Instead of knocking me out, I remained awake during the procedure, walked out an hour later feeling fine and recovery was a breeze.

Well the liver biopsy came back normal!!! I was so frustrated---how could it be normal when I obviously had HFI. On a low fructose diet I was a "changed" person. The gastro just thought I was crazy at this point inspite of the fact that my liver enzymes were "almost normal" consistently the lowest ever when I ate only low fructose vegetables and no fruit or sugars.

Now I had to find a medical geneticist. Luckily, I found a biochemical geneticist at the University of Washington in Seattle. Dr. C. Ron Scott. I made an appointment and asked why I had symptoms so similar to people with HFI yet all my results return "normal". He said I definitely have HFI but I must be missing a different enzyme in the pathway. This is a hypothesis at this point. I feel that my case probably at least doubles the number of undiagnosed cases but I need to find a researcher willing to explain my case.

Right now, my goal is to start a foundation this summer with the aim to raise money for research into HFI. WE need this!!

It took three more years for me to experiment with my diet and get my liver enzymes in the normal range. I have to eat only meat, fish, dairy, white rice and refined white wheat bread with no sugar to have a normal liver enzyme test. I take MCT oil and vitamins daily to replace vital nutrients. I feel remarkably better on this diet.

[ukbill]

Congratulations Debra!

Glad you have found a solution to your situation.

YES to the Foundation it is desperately needed!

There are far rarer conditions with massive foundations and even a crews of full time researchers and Doctors.

Our condition (lets call it sugar metabolism issues which encompass's several similar conditions) is at 1:10,000 to 1:20,000 for pure HFI alone really quite common as a hereditary condition.

However there are very many of us "unaccounted" for.

Now either we are living with the condition and just considered "fussy eaters" or we mostly die before birth as a result of fructose poisoning or as infants.

If you talk to midwives they say a constant a number of babies "fail to thrive" after birth and die.. how many of these are HFI? Are they tested for HFI.. can you test in an autopsy for HFI?

So I believe it is VITAL we get a foundation of some sort set up and running.

Not just for those of us who survive, which is enough by itself, but to save those who currently do not survive..

Having lost a child I know how much damage the loss dose to the lives of all closely associated, let alone the parents.

If you need help let me know.. however I have not a clue how to set this up .. otherwise I would have already done so.

Keep smiling

Bill A.

PS might be an idea to start a new thread for this?

[Debra]

Thanks for the reply, Bill.

Great idea about starting a new thread. I am a full time student and I'm involved in a very intensive undergraduate research project right now. My school quarter ends in late June. Then I will devote my time to starting a foundation. I will start a new thread at that time.

I'm glad you're behind the idea. I am sure it will be a challenge to get the foundation going but worthwhile!

[ukbill]

It potentially could save a lot of lives and reduce the anguish parents of HFI children face both before diagnosis and after..

We can provide safe advice to parents when they ask key questions like "What is safe to feed my HFI child" "what medicines are safe"?

Etc..

I think concise, accurate and above all 100% HFI safe advice should be given by people who have the condition (diagnosed and proven) and any Doctors and medical professionals we can get interested in helping us.

Having an Official "Foundation" or "body" is essential to this.

As an aside we may also help the general population with the severely damaging addiction to refined sugar products by disproving much of what has been said about nutrition (specifically about fats and their place in obesity) for the last 40 odd years.

I wonder who funded the original research that came up with the idea 40 years ago that dietary fats were the culprit instead of refined sugar / artificial sweeteners as is now proven beyond doubt and argument?

[brianh]

Hi - I am one of seven kids born with HFI.  3 out of seven of us kids have HFI.  This is consistent with the autosomal recessive gene.  The strange part is that neither my Dad nor my Mom can recall any of there families or relatives with symptoms.  My wife and I were both genetically tested when we were married.  Of course I had the recessive gene and she didn't so our kids were all okay.  My oldest sister was admitted and tested when she was young.  After that my parents looked out for it in their other kids.  They were very careful and sensitive to the condition.  I manage it pretty well with an occasional slip, I'm thinking maybe 3 times in the last 10 years.  I'm 51 now, run regularly, have good blood pressure, no heart disease, etc.  I'm pretty blessed.  I would say none of the general practitioners I've seen through years have any clue and have never asked me about it.  It still seems like a pretty obscure genetic condition.  To this day I have not met anyone in person with HFI.

[Tammy]

Hi Brian, Glad to have you on board. what part of the world do you live in? We have found that many things vary with geography. I'm sure between you and your siblings you have a great handle on what you can eat. It would be nice to hear if there is things/restaurants, etc that may be helpful to others in your area.
We often say it'd be great to have a big get-together for everyone but it just hasn't been practical yet. Sometimes you can meet up with someone though. It's nice to do that.

[brianh]

We are in the Midwestern US (MO and TX). Plenty of food variety for us to choose from. I generally don't have a problem at restaurants or grocery stores.

[annemarie]

Hi,

I am so glad to have found this site. My son is 9 and was diagnosed on the autistic spectrum at age 3.
He improved greatly with a gluten, casein and egg free diet. He is anaphylactic to eggs and has tested positive for sensitivity to dairy. I have tried so many different diets trying to help him. Many were grain free with lots of meat and veggies. I never understood why he did poorly when I tried healthier diets. I have been wracking my brain for 7 years. I have been going back and forth trying to figure him out because it just didn't make any sense to me. He has always had aversions to anything sweet and I now realize he vomits after consuming the a certain of fruits, like a whole avocado. He also vomited after taking motrin when he was younger. A few years ago, we went to Europe for 3 weeks and we didn't have access to any veggies he liked. So he pretty much and red potatoes and meat. When we got home he returned to school and his teachers noticed that he was greatly improved. His focus, attention and learning improved and his body didn't have any tics ( they call it stims in the autism world). And then after a few months he declined. His tics returned and his focused did too. Again, I couldn't understand this ( I included veggies) . A roller coaster ride that just didn't confused me. We started seeing a functional medicine doctor. She requested 23 and me DNA testing. She also noted out of range elevations in his liver. We just received reports from 23 and me. My husband and I both have a HFI variant. My son has 2.(rs1800546 and i5012664)
I know this is not a diagnosis but I have started a fructose free diet anyway. I am confused and I don't know how to proceed. Does this sound like HFI?
The doctor suggests seeing a geneticist because he might have HFI. And she feels if he does, then what is the severity. She feels that it's a rigid diet ( especially with his other restrictions) so if it's less severe perhaps he can have some veggies. Providing my son with this diet doesn't bother, it's a blessing to finally possibly understand him better so I can help him. He is verbal but can't express well how things he eats affect him. I live in NYC, does anyone know what type of geneticist I need? And is brown rice okay? He likes rice cakes and crackers and I can't find any with white rice. Also, are some white potatoes ok for him right now.

thank you so much for this forum...not sure how to post new threads 

[stefaniebillette]

Feb 8, 2007 10:18:34 GMT -5 colormist said:

I was diagnosed (by myself using the internet, but the doctor needed medical evidence) via blood sample/gene sequencing at the University of Michigan Genetics Department. (Very nice doctors)

I don't know the actual term for it. They took a blood sample and looked for the gene(s) to prove to me that I didn't have HFI (because I was oh-so-insistent that I DID have HFI). Needless to say, I was right and they wanted to learn more about me.

Afterwards they said they really couldn't do anything for me that I didn't already know, so I escaped unscathed.

Colormist,

I feel like I have found a lifeline in you.
My 18 month old son was born very small and very premature. He stopped growing in the womb. He was born anemic but seemed otherwise healthy until a couple of weeks into is NICU stay when he developed liver abnormalities ( I later found out by asking many questions that the NICU nurses give sugar to the babies before doing any procedures or blood draws). For the next 18 months, Drs came up with all kinds of ridiculous theories and wanted to biopsy my teeny guy -and have him fast for 12 hours! We refused and to the Internet I went . I kept insisting that there was something going on with his blood sugar because I noticed hypoglycemic symptoms. To make a very long story a little bit shorter, we have been to so many doctors who say they have never seen a liver that looks quite like his with "lesions" that look like fluid-filled pockets. I email Dr. Tolan and he said these lesions could be fatty liver from the damage that has been done to his liver while ingesting fructose. Dr. Tolan said he can't see my son since he's not a practitioner. I took him to Children's Hospital Pittsburgh and I think all they want to do is turn him into a case study. They want to do all this expensive genetic testing BEFORE they test for HFI. Finally, I got an appointment at Duke with a metabolic physician who has experience with HFI. I am completely convinced my son has HFI because I have eliminated fructose from his diet and he is now thriving. When I gave him a teaspoon of green beans (on the safe list according to BU' website) a few weeks ago, he vomited and looked awful. When he accidently took a medication w sorbitol in it back in December, he was yellow and sickly for three days. I want the genetic testing done and to see if our daughter is a carrier, but my gut tells me this is what he has. I don't know how other people have escaped diagnosis and survived infancy whereas my son has had an enlarged liver since he was 6 months old. He was breastfed but once he started solids and supplemental formula he worsened. Thank you all for being a source of support in the isolating world of HFI!

[colormist]

Hi Stefanie!
I'm not sure how I've helped, but I'm glad you've found us and are your son's champion! I know it's not easy. The diet's not easy (as there's sugar in everything). Talking to friends and family about the condition isn't easy (nobody believes there is such a thing). Medical professionals are exhausting to deal with (the number of people in the hospital that I had to educate about my condition for a surgery was endless--and still, when I had complications with my painkillers, my surgeon tried to give me a painkiller with sugar in it!). Yes, they say they believe you, but they still don't understand the gravity of the situation--even medical professionals.

Green beans might be okay for him to process when he's bigger (closer to adult size), but as a wee babe, it's safest to avoid anything with trace amounts of fructose.

I think a lot of us late-to-diagnosis folks were lucky to be born as healthy babies. I think I recall my mom saying I had a heart murmur, but that went away shortly after birth. There were some issues with trying to find food that I would agree to eat and not spit up, but thankfully my mom has bland cooking.

Let us know if we can help with anything! There are quite a few parents with young children on here that could help with any dietary or medicinal questions.

[stefaniebillette]

Feb 10, 2016 13:30:46 GMT -5 colormist said:

Hi Stefanie!
I'm not sure how I've helped, but I'm glad you've found us and are your son's champion! I know it's not easy. The diet's not easy (as there's sugar in everything). Talking to friends and family about the condition isn't easy (nobody believes there is such a thing). Medical professionals are exhausting to deal with (the number of people in the hospital that I had to educate about my condition for a surgery was endless--and still, when I had complications with my painkillers, my surgeon tried to give me a painkiller with sugar in it!). Yes, they say they believe you, but they still don't understand the gravity of the situation--even medical professionals.

Green beans might be okay for him to process when he's bigger (closer to adult size), but as a wee babe, it's safest to avoid anything with trace amounts of fructose.

I think a lot of us late-to-diagnosis folks were lucky to be born as healthy babies. I think I recall my mom saying I had a heart murmur, but that went away shortly after birth. There were some issues with trying to find food that I would agree to eat and not spit up, but thankfully my mom has bland cooking.

Let us know if we can help with anything! There are quite a few parents with young children on here that could help with any dietary or medicinal questions.

I've been reading your posts, and you have a wealth of knowledge. It has been a stressful and lonely 18 months, and I am grateful that Remy is so resilient. When I think about the number of times he could have died being exposed to fructose at just 2 1/2 lbs., I tear up.
Through elimination and then trying a few foods that are "maybes" for HFI, I think you are absolutely right....Remy's IUGR probably complicated his condition and he shouldn't try the maybes until he is older/bigger (he just hit 20 lb finally when we self diagnosed and put him on an amino acid toddler formula). The fact that his abdomen went from beer belly to normal and he immediately stopped vomiting was proof-positive for us that our rare little guy (severe IUGR odds are 1/1000) was even rarer than we originally thought and clearly has HFI.

Thank you again for your warm welcome!