How were you diagnosed?

[charlie]

Hi Vici,

Nice to meet a fellow brit and not too far away, we are in sussex but love somerset, my gran used to live in Taunton.

Thats interesting you had the breath test, my daughter had that but the jury still seems to be out as to whether it is HFI or FM as her liver readings have always been fine, but then I have watched her diet like a hawk from early on.

The problem with some of the foods on the board here is in america alot of the products are different and therefore are safe there but wouldn't be here.
I can fully commiserate ove the lack of support from the NHS, and yes this board is a godsend How has your health been with this, what foods can you eat. filll us in on your story.

My daughter sees a chap in epsom in fact we are due back there on Tues for a repeat test but he is pediatric and I guess you are out of that bracket now?

Do you use vitamin supplements at all, have you found a safe one, I can't seem to find any here at all.

Nice to meet you
Charlie

[vicip]

Hi all,

I was made to drink water mixed with Fructose, water mixed with sucrose and also water mixed with glucose, they did the breath test after this but also took blood etc, i was in hospital for 5 days whilst they were doing this but have to admit most of that time is a blur and am not exactly sure what tests they did as i was only 13 at the time but remember i was so so ill!!!

When i was under 16 i used to have a vitamin called Ketovite prescribed, it was tablets and a medicine and the most disgusting thing i have ever tasted! i'm 33 now and really should take supplements but don't at the moment

i manage pretty well now, have the odd occasions where i slip up but usually because someone has made a meal for me and they think they have prepared it correctly but have made a mistake, this happened recently and although i was only physically ill for about 8 hours it took me over a week to recover from the shakes, tiredness, headaches and also a sense of depression , i think it gets easier to stick to the diet as you get older, you know it's just not worth it!

really nice to have people to talk to about these things, i would like to get more support from my doctor but they are really not interested.

Charlie - Taunton is lovely! i live about 45 mins west of there in a little place called Wincanton,
i know what you mean about the american food - when i saw something about smarties i was shocked till i realised they're something totally different over there, they seem to have a much much better range of foodstuffs then we do here.

nice to meet you all

Vici

[Franz]

Hello to everyone!

I'm Francesco I'm 29 and I come from Genoa in Italy. I was born with HFI and the docs found it in me within the first year of life..
My experience have been very hard, I was the first one found in that hospital with HFI and the docs made me lots of tests..so many that they would continue risking to kill me..a nurse told to my mum : bring your baby away soon or they'll kill him..
Thank to a my grandfather's friend who was an important doctor in Genoa at that time,my parents could bring me at home after a fructoise exam.

With it I grew well despite of the limits..the most difficult time was when i was a child and that is the period in which we see birthdays' cakes,all friends eat normally sweets and icecreams.
Growing I saw the others limits with foods and drinks like coke and alcholics.
I just drink very rarely some light beer,there are lots with sugar inside..but also some without and lighter.

The luck is to not like the taste of everything with sugar,from tomatoes to beans to all fruits or sweets etc.

Reading of some of you finding HFI late in the years as at twenty or later,it's so weird to me..it makes me think how it was hard to grow feeling sick without to know the real reason..it was surely so hard..

My mum used to make me lot of sweets with glucose,just to make me feel like other,and it was so nice to me,but for me it's hard to eat them too..just the sweet taste in my mouth make me understand that i don't like them.

Another problem through this,has been the sport experiences. I always liked to do lots of sports like swimming,tennis,volley,rugby and then soccer (the longer experience). the medical docs I found wondered how could i be able to play competitions without have sugars in me and so the energy i needed.
They wanted to prohibit me to play sport at competition levels because of my HFI, but i did them the same. Often I used to drink a milk glass with some glucose before training; depite of I didn't like the glucose taste too i took it as a medicine so i could have enough strenghts.

The HFI brings the liver's values to be altered always so it brought me problems when i did alchol blood exams for my car license..
I saw that also eating a plate like chicken cooked with a bit of white wine ( I like to cook very much! ),it stays in my liver for weeks..so when i went with my exams to the car license docs; they thought i was a boy used to be drunk everyday..so embarassing to be accused turned from lots of docs..I had to find one of the docs who knew me when i was a baby and my medical folder of that time. After i brought to them all information they needed to understand that my liver's values were altered because of it..In this case the tranferrin use to be high as value for lot of time if I drink or eat something with sugar..and the transferrin is the value used to measure the alchool in the blood from police.

As I found this site I wanna let you know a my e-mail if some of you would have some advice more to cope it,expecially with your babies..

[e-mail]


Bye

Francesco

[Kat]

Hi Everyone,

I have HFI as does my sister, we are from England, although we weren't diagnosed until I was 10 and she was 6 we are very similar to Franz in that we dislike everything that is sweet, whether that is glucose sweetness or fructose sweetness and neither of us eat anything that has a sweet taste at all.

We were diagnosed by my mum reading an article in Readers Digest magazine about a man who had HFI and my mum recognised the symptoms in us. She then she contacted the doctor mentioned in the article who we then sent blood to. Before this we had been seen by many doctors who accused my parents of letting us be fussy eaters (even though my brother who was born between us ate completely normally!!!). We were taken into hospital and fed all sorts of horrible things - tinned peaches, pears, orange juice, bannanas etc which as you can imagine made us very poorly but the doctors still claimed that it was because we were not used to these foods!!!

I am now 28 and my sister is 24, we have yearly visits to a metabolic doctor, a dietitian and also have blood tests and liver ultra sounds but we are both healthy and very rarely have any problems. My boyfriend and I have also just started to see a geneticist.

This board is great, there is so little information around and it's nice to hear about other peoples experiences - I feel like we have had an easy ride compared to lots of you!

[charlie]

Hey, has england suddenly woken up, 2 people in a week have joined this board, for ages, apart from Mad Bill I thought we were the only ones in england!!!!? great to meet you too, wow, another switched on mum having to fight the medics, what a familiar story, where are you from in england, if you don't want to post it then join properly, its free and then you can send me a message, we are in Sussex.

[julienc]

LOL, Charlie. I'd love to hear how people find these boards. Anyone new want to share?

It amazes me how many people self-diagnosed after that Readers Digest article. That reached a wide audience.

[sarahk]

Hi-Mike Here--sarah and I have been super busy the past few months and haven't posted.

I saw this and though I'd chime in--Sarah too was diagnosed after her friend's mom read that article-she was about 13 years old-she is 32 now. She was diagnosed through the genetics lab at Kaiser Hospital and Dr. Tolan at Boston Univ.

Dr. Tolan has since tested me (negative) and both our kids-who are obviously carriers, but neither have HFI-Ethan (age 3) loves sweets) and Abigail (age 8 months) it is too early to really tell-but she seems to prefer less sweet food.

[Roza&Meryem]

I have 2 daughters, Roza(3year) and Meriam(2year).
When Roza was 3 months old, she got sick(RS-virus). due to breathing difficulties, we were in hospital. After 3 days she became worse. She got help for breathing by CPAP.
The doctors realized she will soon come into coma. It happened, Roza stopped breathing, and she got artificial oxygenation. Soon they found out it was her liver. She was in coma for 1 week and 1 week with "metadon" for withdrawal symptoms.

Everything was fine until Meriam were borned and became 3 months old. Same symptoms like Roza, but no coma.

When Roza became 2 and Meriam 1 year old something were wrong. Their stomach were too big. After a ultrasound scan result, their liver were too big and the spleen was enlarged.
After 8 months with medical studies we got no result.
We heard about a children's hospital in Ankara. We went to Turkey and had them investigated. Doctors' guesses and a DNA analysis, which only took two weeks, and we had the answer, HFI.
There was something with both my daughters, who specially attracted my attention. Days after their birth, they lacked both k vitamin, although they had received three doses each, when other children need only one dose. Although they got the three dose was not enough. They may simply not get more than 3 dose.

[marleen]

Hi,
A time a go I posted some messages on the board, but being absent for quite a while. I haven't even introduced myself and my daughter with possible HFI properly. (I want to thank Charlie with her food-list. It helped a lot.)
Here is her story. She vomit alot in her first months of her life. But everytime I said this to the docter he didn't take me seriosly. She was growing very well. So there wasn's a problem. When I started working with 4,5 month she refused drinking from a bottle (she is breastfed). She lost weight. And did went on. She then got diagnosed with reflux and got medicine. The first week she gained weight, but then she losed more weight. The vomiting was going on. At the age of 5,5 month I started introducing fruits and vegetables to her diet. She refused eating it. Only spinach would go in very well.
With 7,5 months she got in the hospital for 5 days. They kenw something was wrong, but didn't know what.
Until march this year Nienke's pediatrician called out of the bleu with the question if she liked fruits. No she didn't. He then said that it was possible that Nienke had HFI. We were send to a specialist in our country. This specalist has done some studies on HFI. Most of them in eastern Europe with severe cases, mostly people who growth was very slow and some where dealing with retardation. She said with all the info she had on Nienke it would be strange if she didn't have HFI. Only the DNA don't show it. The doctor was more suprised than me, that the DNA didn't show HFI. I was prepared through this board.
The doctor has giving us some options to do next. She can do the fructose test, (not by drinking it, but giving her it by IV), liver biopty, or she was going to search around if someone on this planet already can do a enzymtest that is 100% reliable. She also want to try giving Nienke for two weeks all the vegetables to see what hapens in her blood so she can medical put the stamp on with HFI.
At this moment whe dicided we are waiting a while with more tests (in March we have our next apointment with the specialist), because every time Nienke doesn't feel okay, she refuses every food and just drink breastmilk. So giving her all the vegetables will not change her blood that great, because she doesn't get in enough.

The hardest part of HFI now (after getting her diet right) is when she has to take medicine. It is so hard to get anythng that is HFI safe.
And the other big question is how to do it with breastfeeding. Because it is her saving when it is getting hard for her with her bloodsugar. She refuses to drink milk.
On a good night she comes in the first part after 4 hours she went to bed. Then the time between waking up is less than four hours. When she eats some fructose she wakes up every 1-2 hours. And drinks a lot when she wakes up.

Thank you all for alle your information already.

Best wishes, Marleen

[charlie]

Hi Marleen, nice to meet you again.

I am going to give you some very bad advice medically so think it over carefully before you follow it!!

For the moment, forget the medical tests and follow your instincts as a mother because it sounds as though you know what may be wrong but your practitioner doesn't know about it.

I can't remember how old your daughter is but for a few weeks, as long as she doesn't have a major health problem try an HFI diet. My daughter was identical to your story, I dried up when she was 4 months as i was working too hard and everything just went wrong from there and she went from a healthy text book baby to a screaming, bloated projectile vomiting one as I tried bottle milk and pureed fruit. Unfortunately I had no idea what was wrong and tried all the wrong things until when she was 18 months old her doctor suggested HFI, I found this board and followed the advice and she got better. I left it for a while as the consultants convinced me it wasn't HFI as "she would be dead by now" if it was, it was a bacterial infection.

when she was 5 my brain finally started to work, I rejoined this board and used my commonsense and things gradually, slowly improved.

So this is a longwinded way of saying, in the short term you won't do any damage by changing her diet but it may give you a positive answer.

Keep it simple to start and slowly add more and keep a diary.

Maybe try a puree with white boiled rice, chicken and chicken stock ( make by boiling a chicken carcass), make it quite mushy and feed it by a spoon. At her age she isn't going to mind if she has it 5 times a day - its only us that thinks they need variety. then use that as a base to try other things, add things in slowly but avoid fruit and veg for now, just keep adding different HFI safe foods till you have a good sound base and hopefully a healthy baby The trouble I found is that if we added any fructose the reaction lasts for weeks so every time you get them healthy and strong you sent them back to square one.

after a while you hopefully have the proof you need to present to the medics. My diary was very thorough, it listed hours she slept, when she went to sleep and woke up, wee and poos quantity ( and she was supposed to be out of nappies then so when she had accidents) and mood swings. It became very interesting reading after a while.

Luckily in Britain we don't need a firm diagnosis for treatment but I know some in America have to push for a clear diagnosis for medical insurance, but if you have till March till your next appointment then you have plenty of time to balance her diet yourself.

Anyway, I'll stop waffling or they will accuse me of copying Bill....LOL sorry Bill!!!!.........

Good luck, keep us posted

Charlie

[marleen]

Sorry, I forgot to mention my daughter is now almost 20 months old.
She is on a HFI safe diet since she was 13 months. We have won al lot since than, but also make still a lot of mistakes.
It is difficult to know what is going on in the little body of Nienke, since she can't speak yet. We have to "read" her very carefully. But every parent knows what that means. Often we don't know what had upset her. And the first we do is watch her food. But it can be so much more: teeth come through, becoming ill, etc.

Charlie, thank you for your thoughts. I'll keep them in thought.

[charlie]

Hi Marleen,

can Nienke have dairy, Megs was on goats and cows milk instead of formula by 20 months as the formula wasn't suiting.

[marleen]

Nienke refuse to drink milk (cow, rice and goat).
She now drinks water, 3 times during daytime breastmilk and with breakfast and dinner some plain yoghurt.
Since she get less breastmilk, she starts eating every day a bit more.
Today her poo was for the first time in her life brown. Until today it was always breastmilk poo (yellowisch). Sorry for the details. It seems like a new period is starting. But if that is good or not, we'll see.

[hfimomof3]

I wonder if in addition to having HFI she might also be allergic to cow's milk. What happens when she drinks cow's milk? In what form are you feeding it to her? Can you try adding a drop of vanilla essence to make it taste better?

I have noticed that the taste of commercial cow's milk is different than that of organic cow's milk. I suspect this is because of either metabolites from chemicals that were fed to the cows, or from some difference in processing. Anyway, what I am saying is that maybe she would accept organic cow's milk. Note that I do not mean raw (i.e. unpasteurised) cow's milk, but organic pasteurised milk. Raw cow's milk is not considered safe to drink, as far as I know, because of the possibility of bacterial contamination.

Does she eat chicken? Beef? Fish? It is hard to get enough protein without milk at that age, but once she has all her molars, she may be willing to eat meat, fish, or eggs, which will help you with her protein. Once you have her taking in enough protein, then you can use a multivitamin to make sure she gets enough calcium and vitamin d. don't forget vitamin C of course, which is typically missing in our HFI diet.

If you are still breastfeeding at toddler age, you need to make sure YOU take in sufficient calcium. I was told to take extra calcium over and above my multivitamin, because making milk takes so much calcium out of you.

[marleen]

I believe it was May that Nienke was tested. She had a lack of vitamin C and D. Since then she got supplements for that.
For the rest she haven't had a lack of vitamins.

I don't believe she is allergic to cow's milk. Because plain yoghurt doesn't seam to give a problem.
No one in the family seems to like cow's milk. I never drink it and have never done in my whole life.
The sister of Nienke has drank formula until she was three. Now she's drinking juice and water. The dietician has the opinion that she takes in enough diary products.
Nienke still get's a large amount of milk. She eats chicken, but don't like it. she eats beef and fish.
Thank you for thinking with me.

[ukbill]

Beef is better for Iron content, Fish for protein, iodine etc. Tinned fish with bones blended in good for Calcium.

Short enough for you all? lol

PS .... no no ps. ;D

[ukbill]

I had the chalenge test by IV.. I crashed spectacularly but then they did give me 10x the amount they should have done!

150Gramms Intravenously!

I dropped below 2.5 (normal fasting 24hours is 5 and 25 min after a meal 10 to 11) which is the lowest their equipment could measure in 1981 Man o man did they panic!.. me I just slipped away into a coma for a little while.

It took me 6 months before I started to recover properly.

By the way If they are not sure if its HFI or DFI then get the HFI test done FIRST the DFI hydrogen breath test will come back negative for HFI and badly stress an HFI with the amount of Fructose in the drink!

Seasons greetings everyone!

[shereebailey83]

hello!
when i was diagnosed they only had a few other reported cases in australia and i was very lucky a doctor had seen a case in america only a few months ago, my mum took me to over 25 hospitals in the region (i was 3 by this stage and was barely walking or talking due to being so sick and in and out of hospital i couldn't keep anything but goats milk down) and they kept telling her that she was just an overactive mum!! Typical health system! I slipped into a coma when they accidently gave me a syrup of some sort... they pumped my system and when i was ok i was then given a liver biopsy which finally confirmed the doctors suspicions... It sounds like i'm actually very lucky to be alive as i was fading away to nothing and nobody seemed to be able to help, it is so lucky that these days you can find out just via a breath test!!
I unfortunately don't have a steady doctor or a reliable dietician at all so thank you to all you guys cause the support is great!!
Kind regards!

[ukbill]

Sheree, The breath test is for DFI only not HFI however you are right we are all lucky to survive the first years till we can tell people what makes us sick even then it is difficult.

DO not worry about a "reliable dietician" they are all brain washed into thinking 5 portions of Veg a day type mentality.

I have not met one yet who is not actually dangerous in their advice to an HFI person.. they seem to be totally unable to get their heads around the condition.

[kim55]

I have never trusted dietitians since a dietitian told my mother-in-law, who used to pass out frequently from low blood pressure, to avoid sodium (which is supposed to be bad because it raises blood pressure).

And when I was in the hospital and told them I was fructose intolerant, they served me a canned pear in syrup.

I question whether any of them ever divert from the government guidelines for nutrition and actually think about the person they are advising.