Please advice on test results

[danielle]

Dear all,

I need your help and advice most of all.

My sun had a fructose challenge test this morning. Please comment and interpret the results based on your HFI experience:

For your information: he was doing fine the last week on the HFI diet and even slept through the night.

The metabolic doctor initially planned to give my sun of almost 2 years old and 12,5 kilograms, 10 grams of Fructose, based on what is excaptable fructose intake for his age. His blood was checked before the test and his liver was fine but his blood had a little to much acid, but his urine was fine. The doctor changed the dose to 5 grams and eventually decided to give 2,5 grams to be safe.
The test started with bloodsugar of 5,8, before he was given the Fructose in his bottle Neocate at 9.30 pm. His blood was then tested every half hour until 13.00. This gave the following results (10:00 7,9) (10.30 6,8) (11:00 6,2) (11:30 4,2) (12:00 5,2) (12:30 5,4) (13:00 5,6).
His symptoms were: burping, starting reflux, pail, quiet, not well, uncomfortable (understandable because he had wires everywere but he normally is a lively happy boy), drousy, around 11:30 he fell a sleep untill we had to wake him up and then seemed better and recovered. Assitant interpreted this as "he was very tired".
Except for the burping he seemed fine. Then test results came back and his liver also seemed fine. Conclusion of the doctor: nothing wrong with his liver, nothing life threatning, maybe something in his intestins, you can start giving him fructose again, the dietician will contact you on Monday to change his diet.
On my way home I felt empty handed and had a bad feeling. What do we do now......? Dispair.
I was in contact with UKbill, who challenges the interpretation of the test results of the doctor and still classifies this as HFI. He adviced me to ask you all for your personal interpretation, so I can take this back to the metabolic docter on Monday.

So please: would you classify these results as probbible HFi or not?

My main concenr and criteria is how he will sleep tonight and feel tomorrow......

Thank you
Danielle

[charlie]

Hi Danielle, you are probably exhausted after this, I know I was after Megs first fructose challenge, she had the breath test.

Well, it looks like his blood sugar didn't go too low, but how reactive was he before you did the test. 3.6 to 5.8 is good resting volume and that can go up to about 7.8mmol after a meal. Although his levels did drop the body obviously reacted well to bring it back up. I have a slight theory that if you have settled the diet well before his blood sugar may not have been reactive enough, Meg was still on fructose when they first did her test and she was very reactive but last year she had been off for 4 years and was less reactive. Certainly his symptoms show he had abdominal discomfort.

He could still have severe fructose malabsorption. I have just read back through your old posts and it was looking a possibility then. There seem to be different levels of this and causes and those that show symptoms early seem to have the more severe form. Have you tried taking him off ALL fructose for a length of time, then gradually reintroduce a bit of fructose once he is sypmtom free and see what happens. That may give you a clear answer, then when he is a bit older you may be able to do a breath test, you can buy kits over the internet if you need to. But for now, it is safest to keep him off all fructose.

If he was improving on the HFI diet then I would stick to it for now, they ruled it out for megs as she didn't get positive hypoglycemia results and liver tests, now she is having more on the low fodmap diet they now think she may have it as she is showing hypoglocemia and seizures.

You will probably have a few rough days and nights, it took Megs 4 days to settle after the tests and several weeks to really recover. Just feed plain mild foods, white rice and chicken works best for Meg with milk to help him clear the fructose out of the system.

Good luck

[Tammy]

Hi Danielle,
I would not even begin to guess if it's HFI or not.
I do agree with Fred that there would have been vomitting. Only thing is that with some people it won't be for 2 or 3 days. Regina (confirmed HFI) doesn't show any symptoms for 2 or 3 days. Then she gets violently sick. Makes it hard to track down exactly what it was. There was another little boy on here for awhile that was the same way.

So pay attention all weekend.

[ukbill]

Having just read the test method I ma hardly surprised at the result.

The fructose is supposed to be given alone!

Mixing it in to his feed is silly you will not get a result as the blood sugar level will be supported by the glucose being converted from the starches and sugars in his formula feed.

This is a classic example of what I have been saying about eating contaminated Glucose.

Effectively all they have done is contaminate his meal.. no accurate result would be possible using this testing method.

The tests should be in his case 5g sucrose and watch the blood sugar levels for 3 hours with him not having been fed for several hours before test. Then 2.5g Fructose after a similar time period when he has not eaten, and again record the blood sugar levels for 3 hours recording the blood sugar levels every 20 min.

After the Sucrose his blood sugar level should rise for 20 min then crash to a level below the starting level.

After the Fructose test his blood sugar should stay level for approximately 20 min then crash below the start level with no rise in blood glucose level (i.e no Fructose is being converted into Glucose).

That is how the test is supposed to be done.

Been as he "reacted" to the added fructose in a classic HFI fashion, and his blood sugar level dipped even if it was only a little and for a few min.

I believe he is HFI

IF not then please someone explain his reaction and the lowering of his blood glucose level?

[ukbill]

Fred,

When I was tested I had no sugar in my urine at any time even after being given 150g Fructose intravenously.

Just about every time I visit my Drs they do a urine test for sugar and its always been clear.

Has yours or anyone else's ever come up with Sugar in it?

P.S
Fred,

Welcome back

[charlie]

Here's the problem with fructose disorders, no one really knows definatively how to test for it due to lack of experience although resources like this and pooling of ideas is maybe helping to improve that. And I think we all need to take up Susan's idea of using rare diseases day to promote it even more.

The gene test is only 85% accurate, or only picks up certain mutations and this little chap was negative on that, but doesn't categorically rule it out.

The blood tests were inconclusive esp if given in neocate, as Bill has said that would maybe dilute the reaction.

Danielle, you feel he is definately reacting to fructose, then at the moment maybe that is the most positive answer. I have posted on the FM site about hypoglycemia too as it isn't listed as one of the symptoms. It makes sense to me though that it should as the body uses the glucose in the food to pull the fructose through the bowel, surely that then means there is no spare glucose for anything else. What happens to the glucose and fructose after no one really mentions. But maybe that accounts for hypoglycemia.

This is such a grey world in the kids, for 4 years now we have yo-yo'd between HFI and FM diagnosis. I would like to have a clear answer but I don't want to put poor Meg through more tests than I need to she has had enough already.

The lowering of his blood sugar may be easily explained in that if his body isn't used to having much sugar then the homeostatic defense mechanisms may have gone into overdrive and released excess insulin in response to clear it, but in so doing it dropped, but not to hypoglycemic levels, that is below 3.5.

So do some of these children fall into a middle path of fructose problem, they are obviously born with it as it starts showing symptoms as soon as we start giving them anything other than breast milk but at what stage of the digestive process is the problem, maybe it still hasn't been worked out properly as so few are investigated or picked up properly.

BUT the safest solution is to listen to your instincts as a mother as you are the one that lives with it and it took me years to work this out. IF you feel it is fructose related then naturally limit it. If possible cut it all out to start with, short term this will cause no problem but make sure you absolutely cut everything out for at least 4 months. If his symptoms improve then you maybe have your answer, if they continue then you are headed down the wrong path and maybe need to try another food group. (If it is FM go on the other board as wheat and sometimes dairy need eliminating too)

After 4 months you could then try reintroducing some fructose and see what happens as a trial. If his symptoms return then you have your answer, but don't forget it may take several days for the full reaction to set up.

If its positive then you just have to keep him on the HFI diet for life, that is the only treatment anyway, and you need teach him why he has to limit his diet and look into vitamin supplements.

If it turns out to be FM then you may still need to really restrict him as those that have it so early seem to be much more sensative, but you are safer to cheat occasionally as it doesn't have such bad risks of permanent damage.

I hope this helps, the best tip is to stick with your instincts as a mother but just experiment occasionally so you aren't un-necessarily limiting his diet, have they checked for bacterial overgrowths in his bowel, that can cause some symptoms that you have described. That is quickly treatable.

Good luck, keep us posted.

Charlie

[esmee]

I was poking around on Dr. Tolan's BU Lab website (different than his HFI website) and came across this and thought it might be relevant to the discussion.

"In HFI patients, only a small fraction of ingested fructose is excreted in the urine, which indicates that HFI patients eventually are able to metabolize nearly all of any ingested fructose. While about 50% is assimilated by the liver and kidney, leading to pathology in those tissues due to the accumulation of Fru 1-P, the other half is metabolized at unknown sites in the body."

www.bu.edu/aldolase/lab/research.html

I thought I read somewhere also that when they give the intravenous fructose tolerance test that they are checking not only blood sugar levels, but levels of Fructose -1-Phosphate as well which will increase in a person with HFI.

Like ukbill, I think that giving the fructose orally in the child's food is ridiculous. That is definitely not the protocol for an HFI diagnostic test.

If I eat a small amount of raspberries on an empty stomch in the morning without any other food, I will get a horrible reaction: restlessness, irritation, aggrivation, impatience, aggressiveness, anger within 30 mins of eating them as my blood sugar starts to drop, then I become insatiably hungry for the entire rest of the day. It will not matter what I eat, I would not be able to "correct" the problem.

However, if I eat those same raspberries with yogurt, I can sort of get away with it. This does not mean that the raspberries are okay for me to eat, as they are still causing a build up of the Fru-1-P in my liver, but the dairy masks or moderates the symtoms of hypoglycemia just like the formula would with your son. Therefore, I don't think the test they did with your son was in any way definitive.

Also, as I understand it, after an HFI person ingests fructose, they can continue to utilize what ever glucose is present in their blood stream (from the other foods they ate along with the fructose), but once that is used up and gone they cannot convert glycogen to glucose and THIS is what causes the hypoglycemia. Again I will quote from Dr. Tolan's HFI site:

"Aldolase B is the major aldolase isozyme in the liver and functions in both fructose metabolism, using fructose 1-phosphate as a substrate, and in gluconeogenesis, producing fructose 1,6-bisphosphate from the two triose phosphates, glyceraldehyde-3-phosphate and dihydroxyacetone phosphate. In the absence of appreciable aldolase B activity, as in HFI patients, fructose challenge results in a rapid accumulation of fructose 1-phosphate in the liver, causing sequestration of inorganic phosphate. This drop in the intracellular phosphate pool activates AMP deaminase, leading to degradation of adenine nucleotides (13). The concomitant hypoglycemia is brought on by competitive inhibition of phosphorylase a by fructose 1-phosphate (14). These potentially serious manifestations of HFI arise from the inability of the body to degrade fructose and the subsequent impairment of glucose homeostasis (15). Click to see a body diagram of fructose metabolism in the normal and HFI patient."

www.bu.edu/aldolase/HFI/hfiinfo/detail.html

So, as long as their is glucose available from the food the HFI-er has ingested along with the fructose, they my be able to maintain a normal blood sugar level as long as they continue to ingest foods that will provide the needed glucose. I believe that glucose is the only sugar they test for in the blood during a fructose tolerance test and it is the only relevant sugar to watch when trying to diagnose hypoglycemia.

If HFI is suspected in you son, the very safest test to start with is the genetic test. 85% of all people with HFI will be identified through the genetic test. If it does come back negative, then you will have to decide between a liver biopsy (which looks for the presence of aldoloase B enzyme) or a PROPER intravenous fructose tolerance test which must be done with care because it is very dangerous for a child with HFI to go through. Quite frankly, it does not sound to me like the physician who did the oral fructose test on your son has any real idea of what he is doing.

[susan]

I do not have children. I only have myself, memories, and information mom tells me, about me.

As an new born infant, I cried constantly. Corn syrup was being put in my formula. The adults in the family took turns walking me. Walking with me was the only a semi comfort. I lost and lost weight to the point I was put in the hospital. I was dying. My parents were Hillbilly's or very very country people. Uneducated. They feared doctors because their idea was that you go to doctors and hospitals to die. But my parents observations were correct...because the doctors were not helping. My parents removed me from the hospital and tried the one thing they had not tried, "cow's milk". Cow's milk did not make me sick. I am lactose tolerant.

Mom says they had difficulty getting me to eat solids. They used the “airplane coming” technique. As a youngster, I would eat sticks of butter or margarine, sticks of cream cheese, saltine crackers, bread, gallons of milk, potato chips, rice, meats and other things which seemed okay to me. Since my parents had NO information, they allowed me to graze on whatever I would. I would try carrot sticks but preferred raw potatoes.

I had have chronic constipation. I was threatened to be given laxatives one time. I tried to have a B.M., but couldn’t. As a result of this chronic constipation, I often was encopretic. It would happen at the most unexpected times. I did not plan it. I did not try to be controlling. It was surprising and embarrassing to me. Sometimes I would feel flatulent or not at all…then suddenly liquid filled my pants. It was a liquid BM. I was embarrassed and tried to hide it. I would go home and clean myself up. It happened one time at a slumber party when I was about 8. I wanted so badly to fit in with these girls…then this happened. Home became the only safe place.

Today, parents do have more information. You can educate yourselves and your children about the management of HFI with 'our' proper diet, vitamins, minerals and fiber.

Blessings to all you vigilant, concerned parents. Keep up the good work. Susan.

[danielle]

Thank you all for your kind attention to my little boy.

A few responses to questions
_ i will check if fructose was measured in hid blood;
_ I will ask is sugar was found in his urine;
- I will question the method that was used for the test.
- Dies was on the HFI. Diet and with the help of UKbill improved and was doing very well. I am sure the doctor will suggest to reintroduce fructose based on the results

I forgot to add that Dies was not tested on a empty stomach either....

Tomorrow the doctor and the dietician will contact me. I will be preparing questions.
Since the test he has slept better then expected but stopped eating yesterday and has reflux is restless.

[ukbill]

Feb 11, 2012 11:55:11 GMT -5 fred said:

Hi Bill

No sugar in the urine at any time except during the five hour test.

Fred

I do not remember them testing my urine for anything during any of my hospital based tests.. but then I was not in a fit state to remember much..

I was in Hospital for 2 days first day they tried 150g Sucrose straight into my blood stream, then the next day they gave me 150g Fructose.. both after a 12 hour fast.

The Sucrose test hurt more.. it was the crash from a blood sugar level of 11 to less than 2.5 which occurred nearly instantly which hurt the most.

I do not remember it hurting so much with the pure Fructose.. but then I was going unconscious at the time.

However the pre-tests I did at home (lactose and xylose) I was to collect the urine after drinking 150g of both sugars for 12 hours..

I had to do the xylose test 3 times because it gave me chronic liquid poo and some urine was lost as a result.

I am not sure the Xylose test is safe actually. by what I read of the stuff.

A Cell cannot distinguish between Xylose and Glucose .. however it cannot "burn" xylose. So a cell that ingests Xylose then dies as a result of it not having any food (Glucose) to eat.. this is why its used in mouth wash.

So what happens then when we ingest xylose?? Will it kill normal body cells ? I cannot see why not.

[danielle]

I spoke to the docter today;
To my questioning of the test being performed without having an empty stomach and the adding of fructose to the Neocate. She responded that there are different opinions on how to perform the fructose challenge test. She did agree that this would have effect on his blood sugar levels. But she claimed that the results of his liver values are still leading in this test and these were positive, just as the results of his urine.
Although she thought his blood levels were fine, she did suggest to do another blood test. This would require to feed Dies 2,5 grams of fructoise evry day for a month and then do a bloodtest to see if it show fructosemie. The dietician adviced to feed him a table spoon of apple compote every day...
We do feel we should carefully test every now and then if we are still on the right path with the HFI diet and check if he has improved....but apple compote? Sounds like horrible times ahaed to me.

The doctor has also requested the stomach,intestin, liver specialist to advixe if he can check if the problem is in his intestins.

[esmee]

Danielle,

Is there anyway you can afford to pay for a genetic test for your child yourself without having to go through all this?

If I was you, that is waht I would do.

[charlie]

Hi Danielle,
apple compote is basically stewed apples which would certainly give him a strong fructose load, in HFI and FM apple is a big no so you could make him quite sick, which could give them a clear answer.

I have a few questions:

As his mother, do you think he has a problem with fructose in some degree or another

Do you need a definitive diagnosis for insurance purposes or any other reason.

If you think he has a clear fructose problem and you don't need a medical diagnosis then go with your instincts and limit his diet for now. Get him really healthy and then try a rechallenge down the line. The healthier you can get him now the better chance he has later in life. If after clear restriction ( and it is important you are as thorough as possible) his symptoms improve then you have your answer, if after a few months things are still going on then you have to rethink.

It may be HFI, it may be severe FM, both need as limited fructose as possible to start with.

But if you can get them to retest with just pure fructose maybe that would be best, although you don't want to put the poor chap through too much, but maybe have him a bit reactive before they do it. Just go carefully and keep a close eye on him and be ready to put him on very bland mild food after to help him settle.

Good luck. Keep up posted.

[susan]

Here, here,,,I second that motion.

The test is worse than the disorder. The testing, other than genetic blood test, seems to be an Oxymoron in my opinion. Hearing about all the child is being put through, hurt my conscious. As an adult, I have refused those invasive tests. Follow your heart. Susan

[ukbill]

Please oh Please don't give him the Fructose every day for a month.. that is cruelty of the most horrible kind if he is HFI..

I remember being a child with none diagnosed HFI.. and I can tell you the feeling you get when getting a reaction is not nice..

If there is any chance he is HFI then please save him from that.. 30 days of reactions.. people have been imprisoned for doing far less to children or adults!

I can only suppose the specialist has no idea just how painful and distressing having a reaction really is.

I do not want to go into details.. or worry you more than you already are but I would only wish the experience on very few people in the world.. and one specialist in Holland at the moment!

At the moment I am feeling about 150g by IV would be about the right dose for this person!

That would change their ideas a lot!

[susan]

I am surprised I have not developed some psycho social "eating disorder" such as anorexia or something. Food was a source for physical pain when I got sick and threw up. Food became a source of emotional/ social pain when I tried to be the same as others then got sick and threw up in public, or was encopretic in public. I became afraid to eat new things or go places with peers. I still avoid birthday parties. No one ever offered crackers. I had no way to explain it, there was no name for what I was going through.

You know your baby better than the doctors.

Support that baby, protect that baby, advocate for that baby, feed him/her what is safe, comfort him/her, and help him/her learn that the world does have some nice qualities. Offer crackers instead of sweet poison, at least for now until he can talk and begin to tell you what is hurting. Trust yourself in your observations. Susan

[danielle]

We agree with you all and will not start feeding him apple. We will continue him on the HFI diet, on which his was improving so much.
We do not need the medical indication, but we were hoping for a indication of FM or HFI. I am dissapointed to find this is so difficult.

Thank you all

[charlie]

Good for you Danielle,

you stick with your instincts and your little chap will thank you with all his heart later when he is older and healthy. To be honest, we are still waiting for an answer on HFI or FM 5 years on, they just don't know really, all we know is fructose does not suit Megs and that is that. Because it is having an effect on her learning we do now need to go down a challenging path to get her the right support at school, but once we have that sorted then we will go back to zero again. I would rather she was healthy and happy than an A grade student!!!

Susan, you are very lucky it hasn't given you social issues Meg has real issues joining in with social occasions and I am working on that with the psychologists at the moment as it is really affecting our social life. For her it is just being different all the time and not tucking in to whatever she fancies like everyone else.
The other problem is that everyone is interested in what she can eat but this makes her shy away into the background. I try explaining that everyone talks about food but that doesn't seem to help. So now, if we eat with family I get everyone to ask if another persons food is tasty etc.

[esmee]

Feb 14, 2012 0:03:01 GMT -5 susan said:

I am surprised I have not developed some psycho social "eating disorder" such as anorexia or something. Susan

When I was in the hospital about 7 years ago and weighed only 87 lbs because everything i ate was making me so sick, one of the doctors on staff decided I had anorexia and recommended I see a psychologist. I think many people in my life have thought I did have an eating disorder. It is very difficult for people who can eat anything they want and feel great to understand a person who cannot. They just conclude that it must be a mental thing.

[danielle]

Charlie,

I found vitamins that I add to Dies his formula and food to complete his diet with all vitamins. Maybe this can help your Meg.....I use the multi vitamin and vitamine D from Bonusan which are lactose, fructose and sucrose free.

Kind regards
Danielle