Which members have a definite HFI dignosis?

[esmee]

Which members of this forum have a definite HFI diagnosis?

Thanks!

[ukbill]

Fred and me for certain

[carolyn]

And me. After a long battle to get believed!!

[esmee]

carolyn--which diagnostic test did you do? genetic, fructose enzyme assay, or fructose tolerance test?


ukbill--did you ever get the fructose enzyme assay? i know you said in another post that you were considering it about a year ago...

thanks!

esmée ♥

[ukbill]

esmee

No had a bit of a falling out with Doctors well not my usual one but a different one in the same surgery, I went to see one day.. he was a total prat!

Have been avoiding the place since.

Not that I've needed to go back.

Might ask next time I have need to go.

On thinking about it think I did ask but Doctor had no idea who to contact to get it done and was not really interested anyway.

If I can find out who is doing the research in the UK I might have another go and say.. "this is the person get in touch please.."

Other wise no chance I think.

Charlie has put a posting elsewhere about places for Genetic testing including one in the UK so I will give them a call tomorrow.



Not an enzyme test but perhaps more information and a chance to talk to Doctors who are interested in the condition

[esmee]

Duke University here in the U.S. is the only one I have heard about.

[colormist]

I got my diagnosis in Ann Arbor, Michigan at a geneticist. He sent my blood work off to Texas to humor me. I think it was a Baylor Clinic in Houston.

[susan]

I have not been officially diagnosed. I have always lived in the Midwest USA. I am in my fifties. No doctor has ever been able to diagnose me. I figured it out on my own in my 40's,,,BY ACCIDENT !
I almost died as an infant and have been ill most of my life. Once I started following some of the rules to avoid certain foods, read labels, and take vitamins, I feel so much better. I do not want to do the Fructose IV since people can die from it. At this point in my life, I wear a medical bracelet warning I have it. I am convinced I have it without a doubt. I have lived inside my body for 50+ years. Do I really need an official diagnosis?
Susan

[esmee]

Hi Susan,

I spoke with Dr. Tolan this morning and he said they just ran a batch of blood samples for the HFI gene test 2 weeks ago. They need 4 people to run the test. I will be the first person signed up for the next batch. He expects to have enough people to run the test again in late February or early March. You do not have to pay for the test until after it has been completed, and then you will be billed by the University. So, I will get my blood drawn this week or next and send it off to him. He was a very nice man.

I share this with you in case you are interested in pursuing it.

esmée ♥

[julienc]

I was officially diagnosed through the genetic testing. It is a simple blood test that any geneticist can administer, but then the samples are sent to a lab for analysis. The lab at Baylor seems to be the one most frequently used (which was where mine was sent). Many people on these boards have had samples sent to Dr. Tolan. My understanding is that you pay for the initial test, and then they will test family members at no charge.

I considered this route but then decided I wanted a local geneticist that I could use as a resource if needed down the road.

I would encourage you to get an official diagnosis if you suspect HFI. It makes life easier if you end up with other issues. You would then have a medical reason to accept or deny various treatments or medicine that may contain fructose. For example, one medication may be cheaper and have fructose, and your insurance company would not want to give you a different, more expensive fructose-free medication unless there was a medical reason. A diagnosis would provide this justification.

Good luck.

[esmee]

I have decided to go with Dr. Tolan for my test. He charges $450 for the initial test and, if I am positive, he will test other family members for free. I called Baylor and left a message with a genetics councelor, but she never called me back. Baylor charges $950 for the first test and $450 for all additional family members. However, I think that Baylor will bill your insurance if you have it, while Dr. Tolan (or BU) will not. I only have MediCal and that will not cover any tests that are performed out of state, so I am going with Dr. Tolan. He has NIH sponsorship as well, so it seems that he is the point person as far as the research on this disorder is concern. When I call his lab, he answered the phone personally and was very kind. I get my blood drawn next week to send to him, but he needs 4 samples to run the test, so it may be 6 week or more before I know the results.

julienc--can you please share with me the symptoms you experienced that led you to the conclusion that you might have HFI prior to your diagnosis? Also, how old were you when you finally got diagnosed?

Thanks!

[julienc]

Dr. Tolan is a good route to go if you're paying out of pocket.

Another person with HFI (who used to be on this board) tested through Tolan, and then her grandson was tested through him years later, for free, and confirmed HFI as they suspected.

Jan 20, 2012 11:37:02 GMT -5 esmee said:

julienc--can you please share with me the symptoms you experienced that led you to the conclusion that you might have HFI prior to your diagnosis? Also, how old were you when you finally got diagnosed?
Thanks!

I was a classic case like many on here. I refused sweets from birth, and my mom (thank goodness) never forced them on me. I have a brother also with HFI, so we always believed that there was something wrong genetically. Of course, everyone thought we were crazy since we'd eat pixie stix and smarties. I did a decent job of keeping sugar out of my diet by hating the taste, but I exhibited lots of IBS symptoms from the fructose that was slipping through. Doctors over the years didn't seem concerned or have any idea why I hated sweets.

A good friend took interest in my limited diet and talked to her Dad about it (who is a well regarded pediatrician). He immediately sensed it was HFI and told her how serious it was. I googled it, found this forum, and then the clouds parted and the sun shown down, music played from the heavens, etc. Seriously, though, the world finally made sense. I knew instantly that I had HFI. I pursued an official diagnosis, which took about 4 months after waiting to see the doctors and getting test results back. I was 30 years old.

[sm]

Ditto Susan. I almost died when I was one wiht liver cirrhois, have been sick all my life, have aversion to sucrose and fructose, found out when I was 35 on reading an article in the Readers Digest called" The man who hated sweets". Tried to get a diagnosis, called Dr.Tolan when I was in Montreal and wanted to go to Boston, but he told me his lab cannot draw blood. I am 50+ and I don't care anymore to get a diagnosis- I am sure I am HFI. Colormist i am ready for your interview.

[esmee]

thank you julienc and sm for your histories.

very much appreciated.

[carolyn]

Fructose tolerance test- given I/V fructose solution in hospital- twice-they didn't take blood for phosphate levels (I think it was) the first time. I was pretty ill after that!!
Like others of you, I have (almost) always avoided sweets, sugar & fruit & had a mum who didn't force me to eat anything I didn't like, thank goodness. I'd worked out by the age of about 18 that common denominator was fructose. It was a paediatrician teaching me when I did Health Visitor training at the age of 25 who talked about rare intolerances, including fructose & described me exactly! The arrogant s... of a gastroenterologist that I was referred to diagnosed IBS, accused me of having an alcohol problem due to my liver function test results & told me to cancel the genetic counselling appt. that my GP had made. Then he proceeded to order i/v fructose tolerance test-twice! I think I'm luck to have survived it.

[colormist]

Sarosh, I think I need your email address. I like to do things in secret, plus if I did everything on this forum, then my primary reading audience wouldn't need to go to my blog.

[esmee]

colormist--

i would love to see a detailed list of all Sarosh's health problems over the years in your interview. She says she has been sick all her life, but the details of that would be very interesting. i think there are a lot of different ways our bodies can express fructose toxicity, if we only knew how to listen...

thanks!


carolyn--what a story! i was accused of being anorexic by one doctor while staying in a hospital because everything i tried to eat made me sick, so i know what it is like to have a doctor write you off as "crazy." you are very lucky to have had the mother you did and then to meet that pediatrician. it is weird that only pediatritions seem to know this illness even exists. clearly, there are many HFI-er who make it past infancy alive without a proper diagnosis.

we definitely need one place where everyone can catalog their histories and how long it took to get properly diagnosed.

esmée ♥

[tummyache]

I don’t actually have a traditional medical diagnosis of “HFI”, but I was told to avoid fructose and sucrose. No surprise there! I always have had an aversion to anything sweet. In the 1980’s, I was lucky enough to be chosen as a research subject by a biomedical research group at the University of Texas, which accidently discovered when they tried to grow my blood cells in a sugar medium, the cells would die. At first they thought it was a fluke because, evidently, it had never happened to them before. So, the physicians and researchers said I was “fructose intolerant.” I was a patient/subject for many years. During that time they recommended a therapeutic level of vitamins + minerals – especially C, B’s, D and calcium – which I still take.

Actually, I began having digestive problems shortly after birth. As a formula feed newborn it became apparent that cow’s milk was problematic – with ”projectile vomiting”, failure-to-thrive, etc. So, the doctor had Mom switch me to goat’s milk which was a little better tolerated. [This was in the early 1940’s so who knows what was in the formulas in those days.] Growing up, my Mom said I was very cranky, especially following naps and early in the morning, became shaky if I missed meals or “got too tired,” always a very fussy eater, and had trouble in school concentrating and learning to read. As far back as I can remember I had tummy aches and nausea. As a little kid, I would beg for candy and then only take a bite or two before setting it aside. I remained under weight with frequent episodes of flu-like-illness, ear infections, and rashes, sometimes bed wetting and nasal allergies. Actually in my 40’s, I made a special effort to try and figure out what was causing all the problems – it seemed obvious it was something I was eating. One allergist helped when we did the elimination diet - he’s also the one who sent me to the UT research group. Except for these two situations, I saw so many doctors over the years that were clueless… and some even dismissive.

Anytime sugar sensitivity was mentioned, doctors liked to order a oral glucose tolerance test- so I’ve had three, all producing a ‘flat curve’ results. When I eat sugary foods: [1 ] I feel nausea usually within 20-30 min., [2] mouth tissues feel raw + at times there’s tiny watery blisters on the soft pallet and down the throat, and [3] I can feel my digestive tract having muscle spasms all the way through. But, what’s really bad, are the sporadic episodes of diarrhea, vomiting and extreme tiredness. During one really bad episode in 2004, I went to the ER, where they threatened to remove part of my small intestine since it was almost totally closed due to swelling. [Fortunately, it wasn’t necessary.] Soon afterwards we discovered Celiac Disease on the internet. Since we were traveling at the time, I added gluten free to dairy free + a very low sugar diet. Wow, what a difference that made! In fact, I haven’t had one sever episode of vomiting and diarrhea since adding gluten free. Recently though, I had the opportunity to have a DNA test for CD. What a shock to discover that I do not have either HLA DQ2 or DQ8 [found in 98% of folks with CD]. This means there’s a very low probability that it’s celiac. Can’t help but wonder, since we feel pretty sure I react to wheat, is it to the fructans rather than the gluten?

I also have Hasimoto’s hypothyroid, Sjogrin’s [mucosa membrane tissue dryness], osteoporosis, and visual auras + mild headaches every 3-9 months apart [most likely migraine related]. Hummm, could sugar be the trigger for the auras and headaches?

I have read that HFI can be mild or so severe that it’s deadly. I must be more toward the milder end of the spectrum because I can eat one natural unsweetened apple sauce cup without a problem, but a raw apple gives me a terrible stomach ache. [Many fruits make my mouth sore or cause GI problems… veggies not so much, except sweet potatoes]. Forget candy, dried fruit, jams and syrups, cookies, cakes, dairy free ice cream, sodas, or alcohol drinks [except I can sometimes tolerate ¼ cup of dry white wine]…yak! Alcohol sugars [0 calorie sugars] or anything with HFCS are bad news too! My drinks of choice are water, water with lemon, or unsweetened tea. I frequently crave spinach or French fries…and prefer simple, fresh cooked foods like grilled meats/fish, rice, steamed veggies, salad with oil + vinegar or just lemon juice dressing… a few tolerated fresh fruits [usually berries] if there is desert.

Next time I see my GP I’m hoping to talk her into ordering a genetic test for HFI. I know it’s not perfect, but I really don’t want to do either of the other two invasive procedures. I would really like to verify officially that it's HFI. It could be important to my kids and grandchildren.

[esmee]

Thank you, tummyache, for such a detailed response. Your history is really fascinating. Much of what you have shared is similar to my own history. I had tummyaches a lot as a child and always wanted my mother to "rub my tummy." I wet my bed until I was 10 years old. I had a chronic sinus infection/headache pretty much my whole childhood.

I was an extremely picky eater and, looking back, most all the foods I liked had low-to-no fructose in them. It seems that many people on this forum can tolerate cow's milk products (except Fred, per his interview by colormist) but, like you, I cannot. I, too, was cranky after a nap, and woke up every morning with what I can only describe as a "hangover." I had to eat something substantial in the morning or I would be sick before lunch.

I have suffered with migraines (and occassionally visual auras too) for years, and I always knew they were triggered by hypoglycemic episodes, but I never made the connection that fructose (specifically) ingestion is what caused the hypoglycemia until I found this site and started reading everyone's stories. I knew it was the food I was eating, but I could not figure out the common denominator in the foods triggering them was fructose.

I have also experienced the "water blisters" on the roof of my mouth and the inside of my lips. A clear gooey sour-tasting liquid comes out if I pop them.

I stopped eating wheat about 15 years ago and getting the wheat out of my diet was definitely beneficial, but it did not really fix me. I have a lot of digestive problems and seem to react negatively to practically every food in one way or another. Interestingly, I had an intestinal biopsy performed to check for flattened villi and it came back positive. This is generally considered indicative of celiac, but I had not eaten wheat for 8 years before having this test. Usually, if wheat is the culprit, they say you must be eating wheat for the villi to show the effect, but my villi were flattened even though I had not eaten wheat for a very long time.

The villi in my small intestine should have healed pretty quickly once I stopped eating wheat. Since it apparently did not, this makes me wonder if chronic fructose ingestion can cause flattened villi in people who are fructose intolerant?? I never had the genetic test for celiac because I was told that you had to be eating wheat for that test to come back accurate also (though I cannot understand why this would be the case since it is a genetic test, but maybe the phenotype stops expressing itself once wheat is removed from the diet.)

Like you, I seem to be able to handle the small amounts of fructose present in green vegetables. I have a liter of celery juice 2-3 times a day and (according to cron-o-mter) it has 5 mg of fructose per liter. But it does not have any negative effect on me that I can tell.

On the other hand, I recently ate 8 oz of raspberries on an empty stomach in the morning, which also has 5 mg of fructose, and it really affected me negatively. Within 30 minutes I was getting underarm sweats (adrenal stress), and I could feel my blood sugar dropping very quickly. I became restless, irritated, agitated, cantankerous, and aggressive. I got mad at my housemate for no reason and literally "created" and argument where none existed! I also became ravenously hungry and ate twice as much food as I normally do on that day. I continued to be abnormally hungry for the next few days.

What is interesting about this experience is that I went through a period several years back where the only thing I ate for 2 whole years was goats milk yogurt and raspberries. I never experienced the above symptoms after eating the raspberries and yogurt together. After reading everyone's posts here, I see that most go to dairy to recover from an accidental fructose ingestion. So, now I am thinking that the yogurt was masking or moderating the negative effects of the fructose in the raspberries, even though it was still most likely causing problems else where in my body (liver/kidneys).

Based on everything I have read on this forum, I have decided to get the genetic test that is offered by Dr. Tolan's lab at Boston University. If I do have HFI, and it seems like a strong possibility, I really want to know. I have been too sick for too long and, if this turns out to be the underlying cause, it will give me more information to work with in trying to figure out what else has gone wrong in my digestive tract as a result.

I just sent my blood sample to Dr. Tolan, but he needs 4 samples to run the test, so it might be 6-8 weeks before I have the results. This might be the time for you to have your GP order the test for you as well (then we might not have to wait so long to find out!). If it comes back negative, that is not a finally verdict, of course, but it is definitely the best place to start.

[esmee]

By the way, here is another related question:

How many people with confirmed HFI on this forum had abnormally high liver enzymes prior to diagnosis?