How we diagnosed our child

[raluca]

Antonia asked me on a different thread what was the story of our diagnosis process for our 5,5 y.o. daughter. So I wrote quite a long story, and I thought that it's maybe better to create a different thread with this topic. I would really like to hear also stories from other parents.. So here is mine:

Background: I also have an older daughter (13.y.o.). Neither me, her or my husdband have any dietary restrictions, or any allergy...but neither of us really like fruits, always fruits were a rare find in our fridge. Still both me and my older daughter are crazy about sweets, in any form. So when I had my second daughter, Amalia, there was no big surprise for us that when we started food diversification she totally refused fruits, she felt even the smallest bit in her cereals for example. We used to make fun of that, saying that we are really a weird family in regards to fruits... The good thing was that I never forced her, I was much more relaxed with her than I was with the 1st one.

She then started to exclude little by little some aliments from her diet, and she accepted less and less diversity. For example she was always refusing foods with red sauces – made with tomatoes. She ate mashed potatoes with salmon, but at some point she started to refuse it also. She did’t have any serious simptoms of any disease, she was growing normally, but now, looking back, we realized that she was throwing up more often than normally. Back then we thought that she had a sort of digestive sensitivity, because sometimes, maybe once or twice per week she was either throwing up at the end of the meal, or was almost on verge of doing that.. We assumed we were giving her too large amounts in her spoon, of too fast. Also, it was impossible to give her any sweet medicine for fever for example; but she was rarely ill, so we were in this situation only maximum twice of three times in 2 years. Again, it was nothing dramatic, the child was absolutely normal, I don’t remember her complaining about stomache aches, or they were mild and we thought they were related to constipation. But even if I never really forced her to eat anything she didn’t want to, she was regularely eating polenta (corn flour), bread from the supermarket, pretzels, potatoes or other vegetables purees.

One day, when she was 2,5 y.o. we went to the pediatritian for our regular check-ups – once in about 6 months we did that. She consulted her, the child was developed normally, nothing unusual. Then, she said that just as normal routine, to do some regular blood tests.

And so our odissey started, a series of coincidences and lots of luck, actually:

- when the results came back, everything was fine, except the liver transaminases. The maximum limit was 40, and she had 76. I was allarmed, called the doctor, and she told me to relax, maybe she had a “silent” virus from a cold which affected also the liver, she told me to give her some plants supplement, wait for one month and repeat the test.

- I was not relaxed at all, so I went to see a 2nd doctor. She told me exactly the same as the first one, so I began to think I am crazy…But then, when I was about to walk out, she looked at me and said : “If you are really worried, let’s make also a liver ultrasound; just if you want to convince yourself that it’s nothing bad”.

- …and we did the ultrasound, the next day. The doctor which did it was really panicked and told us to contact immediately her pediatrician. Amalia had enlarged liver and steatosis – her liver was covered in fat, we could just see a large white area on the screen.

- Her pediatrician also panicked, and then she declined her compentence totally. She just told us that it’s obviously a liver sufference, most probably caused by a metabolic disease, and that we should find a genetician and also a pediatrician specialized in hepatology. And…good-bye… Imagine the shock we went through – yesterday to know that our child was perfectly heathy and the next days to find out that she has some sort of metabolic disease and that some of them are fatal… this is what they told us actually. I don’t even want to remember what we went through, it was pure horror and shock .

- We found a genetician doctor but the told us that the symptom of the fatty liver can be caused by more than 100 genetic diseases, and the only solution is to test her and eliminate them one by one. Some of those tests costed thousands of Euros, so we were desperate..

- Then, we got lucky. We found a hepatologist which consulted her, asked us about her symptoms, and then suddenly asked: “is she eating fruits?”. I was very surprised and answered “no, not at all, but how did you figure this out..?”. And she told me that in the past she has treated a boy with fatty liver which was also not eating fruits. That boy came to the hospital in almost in a glycemic coma, and she struggled for six months to find a diagnosis for him. She read a lot of medical studies from abroad, and diagnosed in the end that boy with HFI. And then she advised us to do the genetic test for Amalia. We did it, is costed around 250 Euros, and it came back positive.

- This doctor also did to Amalia a liver biopsy, and we found out that she had stage 3 steatosis, almost to the level of liver insuficiency. So she wasn’t only lucky, she was actually saved by somebody from above… Sorry if I sound pathetic, but this is how I felt at that time.

- And then, we started another stage of the odissey. The doctor which succeded to diagnose her was clueless about the diet, and there was zero experience in Romania with this disease. So I realized I have to look for support in other countries, and I have to find a specialist in this disease, anywhere in the world.

- How we found him is another long story, but we did it: we found doctor Philippe Labrune, in Paris, France. www.doctolib.fr/pediatre/clamart/philippe-labrune. He was part of a group of doctors who conducted a scientific study about HFI.

- We wrote him on email, and then we booked our flight to Paris. We met him and one very nice dietetician, they explained us what we wanted to know about the disease, gave us printed materials about the diet, and since then our life came back on track slowly… We adjusted to this new way of life, we do periodic check-ups for Amalia (blood tests), and we face all the same challenges which you are facing, day by day…



Sorry for my English which is not perfect and also for the very long story. I hope it helps, in anyway. 

[colormist]

I always find people's stories about HFI to be very interesting. It's almost always the same kind of journey, but we all take different paths, encounter different obstacles, and start our journey at a different stage of health.

I'm glad you were able to get Amalia the help she needed. It's not easy to get a diagnosis at all.

I've often heard from other doctors that an HFIer would "die as a kid without a diagnosis". We've had a few stories here about doctors not taking HFI or test results seriously and having very serious consequences. I'm very glad you got a second opinion for your child.

[antonia]

Thank you so much raluca. I appreciate you sharing your story. It does help very much. It’s striking the way HFI can present so differently. Some from infancy are very sickly, failure to thrive, with developmental delays. Others have symptoms that fly under the radar, seem to grow and develop normally and then suddenly pop up with liver disease.

As usual I see some similarities to your story with my own daughter and some differences. Like you we passed her symptoms off as being gastrointestinal in nature, not realizing the real cause was metabolic. We thought we were very unlucky in the stomach bug department, and doctors were constantly testing her for urinary tract infections based off her symptoms. But never once was her blood drawn and tested for basic imbalances. At age 3 she was loosely diagnosed with fructose malabsorption or dietary fructose intolerance, so we were keen to fact that sugars seemed to be part of the problem by then.

Once we discovered her metabolic condition (age 5) her ultrasound did not reveal any hepatology, however. Her liver was normal. Rather, her renal system showed signs of irritation - thickening in the walls of the bladder and an enlarged kidney duct. She also had fluid in the abdomen, but doctors say this can be caused by anything. Other than that, aside from hypoglycemia and ketosis, all blood work has been normal. I’ve only ever been told that her liver enzymes were slightly elevated. Although I do remember them also being in the 70’s (and the cut off for normal range being in the 40’s). So if we are comparing the same units, then apparently what is “high” to one doctor is but “slightly elevated” to another. We’ve been to many different doctors and received many different contradicting “facts” about what HFI is and is not. The lack of any sign of liver damage is what makes me question HFI for her more than anything. Other than that she is very much like a HFIer in most every other way.

Thanks again for sharing. So glad you caught the disease when you did. So I’ve heard the liver is very resilient and will regenerate and heal once all fructose is removed from the diet. This is great you found a doctor that can help you. You will also find so many helpful tips on this board. Postings do tend to go off on winding tangents, but this is how conversation flows and new subjects come to light some times. I’ve learned so much from reading them, winding tangents and all.

[raluca]

Thank you colormist and thank you antonia! I was reading your replies and thinking how perverse this condition is, and how different is from one person to another.. These genetic variations make it not only hard to diagnose, but then also hard to manage it in the same way 100%, for the already so small number of people who have it. The lack of knowledge about this disease in the medical field is immense... Only if you think about the fact that we had to find each other from different corners of the world, and there are only a few of us here - it's already scary :-(. But looking on the bright side, I thank God for the Internet and the fact that my mother paid me English lessons when I was a child .

Speaking about corners of the world, there is a Spanish group of HFI patients on Facebook, which post from time to time very interesting things, they seem to be in a good relation with a clinic which studies HFI. Unfortunately they post only in Spanish language, and they rarerly answer to comments in English. Myself, I can understand Spanish like 70%, but I cannot write at all. Anyway, if you have friends who can translate for you, check this page and read some of the articles:
www.facebook.com/intoleranciahereditariaalafructosa.aaihf/?ref=br_rs
Anyway, if I find some interesting info and I can translate it somehow, I will also share it here.

We keep in touch and thank you again for the willingless to communicate, this is the best feeling for a parent of a child with HFI.

[colormist]

Oh! Thank you for the spanish HFI group on FB! I took 4 years of spanish lessons a long, long time ago. I might be able to put together some very poorly constructed sentences if needed. FB also has a translation feature. It's not the best, but it works to get the message across. At the very least, it'll be nice to keep tabs on them.

I am really very surprised with how many people have HFI in Spain! That seems like a really high frequency given the distribution in the rest of the world! Especially since I keep seeing articles that hypothesize the mutation came from some region near the arctic circle!

Speaking of groups, there is also this group on Facebook: www.facebook.com/HereditaryFructoseIntolerance/
It's got about 500 people following it, but that might be more family and friends than actual HFIers.

[antonia]

I scanned very quickly through the Spain FB page and saw pictures of maple syrup, cookies with rice syrup... I'm thinking they're not as restrictive as we are. I understand very little Spanish, cannot write it at all. Let us know what you find colormist!

Raluca, if you have not seen it already, in the US we have Dr Tolan, a researcher of HFI at Boston University. On the Boston U site you will find HFI diets, although many feel they are too liberal and can't eat many of the items listed. There is also a sugar tolerance list that I've found very useful. It would be interesting to see how you feel about the information on this site and how it compares to what you learned from your doctor in France. He is pretty responsive to email, too, should you want to contact him.

www.bu.edu/aldolase/HFI/

By the way, your English is very good. Arguably better than some who've English as their first language!

[antonia]

Sorry, I correct myself. The post on maple syrup is that it's not safe. Not sure about the cookies. There is a company in Europe that (claims to) make HFI safe sweets, maybe these are products made by that company.

[Stefanie (Ziba)]

Ladies.

Thank you for all this interesting dialogue. It helps us feel not quite so alone.
Raluca, your English is excellent.
Here is my son's journey which is different but with some overlaps to both your daughters.
www.rarestoftherare.wordpress.com

The Spain connection fascinates me. My great grandfather was from Spain, and we have strong Mediterranean features (my son and I) whereas my non-HFI daughter has more of my husband's features.

[raluca]

Hello ziba! Thanks for sharing your story! I am very sorry for what you went through, both you and your son... your journey was indeed very hard, dramatic, and I cannot even imagine how it was for you, to see him suffering from his very first days. I must say that it's the 1st time in my life when I hear that nurses give sucrose to new born babies, in the hospital. I don't think it's a very commom practice either, but in any case, it sounds outrageous, it's unbelievable..:-(

What makes me wonder reading all your stories is the fact that your babies seemed to have quite visible and severe symptoms, while my Amalia had quite mild ones, even if her liver was so affected. They told us that she had stage III steatosis, and at stage IV it means she should have reached hepatic insuficiency level. So this is really scary for me, becasue I am afraid of diet mistakes which I cannot notice, but which inside her may have negative effects... We will make a new series of blood tests in the near future, and I really hope they will not be so bad, because in this moment, with her so strict diet, I wouldn't know what to do anymore.. I will keep you all updated here with our evolution. In the meanwhile she seems fine, energetic, only quite pale and with dark circles around the eyes, a little bit more than usual lately.

PS - sorry for not being able to answer more quickly, I have quite a crazy schedule and only in the weekends I find a little peace and space to write.

[meranda]

I’m very new to this group and don’t yet have much information. Our seven year old daughter has not yet been diagnosed but her paediatrician thinks it is, most certainly, HFI. Ingrid was perfectly fine, healthy and happy until she was eight months old and I started introducing solid foods to her. Before that she was exclusively breastfed. Once she started solid foods she started having frequent tummy pains and constantly alternated between constipation and diarrhoea. We couldn’t figure out what was going on. The pain wasn’t at every meal and would seem to come and go so we could never draw any conclusions. Doctors told us she was attention seeking. This continued as she got older. She self excluded nearly all fruits and most sweets. We couldn’t see any correlation at the time but she would often be sick. She would have pain, vomit and exhibit signs of low blood sugar but we had no idea why. Her pain started becoming more frequent and her new paediatrician did an abdominal ultrasound, twice. Both seemed normal. We went dairy free for three months. No changed. Went gluten free for three months. No change. Finally Ingrid was referred to hospital this past March. The first test they did was the Lactose Challenge Test with hydrogen breath test. It showed, very clearly, a severe lactose intolerance but Ingrid was feeling absolutely fine the entire time. No pain, not sick at all. The next day they did the Fructose Challenge test. The results were inconclusive (showed a massive spike after fifteen minutes then normal then another massive spike at two hours then back down) but she was soooooo sick!! I’ve never seen her like that before and don’t ever want to again! She was in excruciating pain (caused her to collapse and break out in a cold sweat and tremble uncontrollably) and was vomiting. She also became very weak and couldn’t speak clearly. Her speech was very slurred and garbled and she couldn’t think clearly to form sentences. She was ghost white and sweaty. She was shaking like a leaf. She had a massive headache. The only clear sentence she could form was “I hate this, I think I’m dying”. It was terrifying and even the doctors and nurses were afraid for her. For the headache they gave her children’s ibuprofen liquid but that’s full of sugar. She just got sicker. This lasted all that day, all night and all the next day. Even the second night she was still in a lot of pain. The day of the test when she couldn’t speak clearly or walk I asked them to check her blood sugar because she was acting hypoglycaemic but they just told me “it can’t possibly be low blood sugar, she just drank an all sugar drink”. If only we had known. Now we wait until July to see a specialist and ask for the testing to see if it’s actually HFI. We are trying to follow an HFI safe diet for her but have very little information as we have no access to a dietician yet. All we can do is read online and hope. Since following the information online and keeping her clear of all fructose (as best we can tell, anyway) she has not had a single tummy ache or been sich once (except for a completely unrelated throat infection). I have never seen her so healthy, energetic and happy.

[colormist]

Meranda -- I get so furious at doctors that test with the hydrogen breath test before ruling out HFI with a cheek swab. That effing test could put a kid in a coma.

I'm glad you were able to find the information you needed to give her a fructose-free diet. It can be challenging at times to find safe foods. I am glad your daughter is doing better and survived the hydrogen breath test.

[meranda]

Colormist thank you. I couldn’t believe how sick she was. The diet has been extremely challenging as there are five of us in the house and none of the rest of us have HFI or LI. My husband is deathly allergic to fish so we cannot bring it into the house and Ingrid must be not only fructose free but also lactose free. We are in Germany so the options are not nearly as good as they would be if we were still in Canada. On the other hand she has actually been tested here, unlike in Canada where they said she was attention seeking. Our paediatrician here had never heard of HFI but has been doing as much independent research as she can to learn. The doctors at the hospital also didn’t do the genome testing first as they said HFI is so rare that it seemed too unlikely (especially since Ingrid is one of eight children and none of the other seven have any issues). The lack of a dietician is what’s really getting to me. We have no guidance at all right now and are really struggling to actually feed this child. There is so much conflicting information that we are never too sure what she can have or not have. We have also noticed that she seems much more sensitive now that she has been on the restrictive diet for a month and a half. Her teacher at school talked her into eating carrots a couple weeks ago and she ended up in hospital due to a blood sugar crash. They had her on a glucose drip overnight. The teacher had argued with Ingrid that there is no fructose in carrots and made the child second guess herself and me. This after I had informed the school that they are NOT to give our daughter any food or drink, other than plain water, no matter what. It seems to have scared the teacher into compliance but it’s not the end of our battles. On the plus side it’s very easy to get pure dextrose powder here and I managed to order spelt flour (I was told spelt is safe) off Amazon so have been able to make her bread and cupcakes with icing. We will keep muddling though.

[colormist]

Yeah, there will always be people that don't believe your daughter's medical condition or don't know of your daughter's medical condition that will guilt trip her, peer pressure her, or argue with her until she eats what they want her to eat. It's not going to be an easy battle for her, but the best thing to do is to encourage her to stand up for herself and be her own advocate.

[rysmom14]

Hi Meranda!

Welcome to the board. It sounds like your daughter is doing so much better on the fructose free diet. The fact that she began to self limit is great. Im sure that was extremely scary to see her so sick from the challenge. I wish they would do away with that test too.

My son is 5 and was diagnosed a little after he turned 1. I hope you find answers with the genetic testing. in the mean time, keep up the good work!
its so upsetting to hear about the teacher. Even if you didn't have a diagnosis, if she said she shouldn't eat it, they should have just left it alone.
we also have a strict " lunch box policy" that he is to eat nothing unless its sent in by me. we have had issues over the last couple of years with slip ups. So even if you get an official diagnosis, because its so rare people don't understand. I have now decided to go the route of putting the fear of God in them if they feed home something that I didn't send.

as far as foods, my sons eats a lot of pasta and rice, and meats. He eats a lot of cheese, but I saw that your daughter is also lactose intolerant.
he also eats yogurt, eggs, and crackers, and I make homemade bread and pancakes and stuff as well.

The board is such a great resource and everyone is helpful.

Rysmom

[meranda]

Rysmom and Colormist thank you. My husband went into the school on a rampage after our daughter was bullied into eating by the teacher. He went up one side and down the other of the teachers, director (principal) and secretary. The school secretary had the nerve to argue and say she doesn’t believe what we have told her and she actually said the words “I don’t care what the doctor says”. She said she would give our daughter whatever she was giving any other student and that’s when my husband really lost it. He got very quite and everyone could see the anger in his eyes. Then he said “if you give my daughter anything, anything at all, you had better pray that the police get to you before I do because an attempted murder charge will be far more pleasant than what I will do to you”. I’ve never seen him so angry before and hope I never do again. The school wants us to register our daughter in the full day program for next year (we are in Germany and elementary schools typically end at about 11:30 daily) but we just aren’t comfortable with it. We don’t trust the school when it comes to lunch. They refuse to allow a packed lunch and insist they will feed her safely but we continue to have arguments about what does and does not contain fructose. Even if we DON’T get a firm diagnosis of HFI her symptoms are certainly severe enough that we know fructose is genuinely dangerous for her. The geneticist here has said he is reluctant to bother with the test. He said the only 100% sure way to diagnose is with a liver biopsy and he doesn’t want to put her through that when it won’t change her treatment. He said the DNA test is not definitive so he doesn’t want to waste the time and money on it. He is suggesting we go with a clinical diagnosis of HFI and just do everything in our power to keep her safe. Unfortunately for people like school staff, who have never heard of HFI, the single word “intolerance” means it isn’t severe. It’s just an annoyance. FM at least has the word “malabsorption” which they actually think is more severe. It’s proving rather frustrating. Lol

[colormist]

Oh for the love of... a genetic test is fast, easy, and SAFE. A liver biopsy is lengthy, dangerous, and involves surgery. I don't know why they wouldn't do a genetic test first to see if she has the more common genes. If that comes back inconclusive, THEN maybe a liver biopsy. WTF.

And good for your husband for going on the offensive. Some people are idiots. You saw first hand what can happen to her if she eats fructose. That is a typical HFI reaction to fructose and exactly why I get so angry when doctors try that instead of ruling out HFI with a genetic test first! Even the thought of drinking that challenge as an adult causes me to shudder violently and make me a bit nauseated.

I would seriously recommend INSISTING on the DNA test. I had to insist on it as an adult (they pish-poshed me and said I couldn't have HFI--too rare, would have died as a baby, but they'd do it to humor me).

I think UKBill has had better luck calling it Fructosemia. That people generally take that term more seriously in the UK. I agree that calling it an Intolerance just makes people think HFIers will have some bad gas and liquid poo.

I did want to ask about the lactose intolerance. Was she diagnosed with that before HFI? How was she diagnosed? It's a heckuva lot easier for HFIers to manage their diet with dairy products than without. I would love for her to be misdiagnosed with lactose intolerance, but I understand if that's not a possibility.

[meranda]

Colormist the testing was done in hospital. They did they H2 breath test for Lactose, after fasting her, and the test was VERY clear. No doubt at all. Her levels went through the roof very, very quickly. She did not experience too much discomfort (she only drank about a quarter of the lactose drink because it was making her gag too badly but the results were still so clear) so they fasted her that night and did the fructose challenge test the next morning. Technically the results were inconclusive. It was also a H2 breath test. She had a massive spike less than ten minutes after the drink which was visible then and at 30 minutes and then dropped right down to “normal” for over an hour and then another massive spike at 2.5 hours then back down to “normal”. The results read as inconclusive for Fructose Malabsorption but her physical symptoms were horrific. She was so, so sick. Incredible pain. Cold sweats. Vomiting. Weakness. Dizziness. Passed out twice. Slurred speech. Unable to follow directions or form sentences. She was a mess. She showed all the signs and symptoms of severe hypoglycaemia (I’m a former Critical Care Paramedic so i actually know what it looks like!) but they refused to test her BGL because they insisted “she just drank a huge drink of pure sugar, her blood sugar can’t possibly be low!”. Then they tried treating the pain and fever with children’s liquid ibuprofen which is full of sugar. This didn’t help. Wishing minutes of swallowing it she would scream in agony again and the cycle would begin again, but worse.

As for the geneticist not sure about doing the DNA test: he said it can confirm HFI but cannot rule it out. The only way to rule it out or have a 100% confirmation would be the liver biopsy and he refuses to do that unless absolutely necessary (we don’t want it!!). His suggestion is to just go with the symptoms which he says are textbook HFI and he is prepared to diagnose it without further testing. He isn’t suggesting the biopsy.

[meranda]

Question: is a fever during an “episode” common? Every time Ingrid has a reaction (pain, blood sugar drops, vomiting, etc.) she develops a fever. Usually around 40.0-42.5. Is this normal for these kids? The fever subsides around the same time the other symptoms seem to subside.

[tummyache]

I don't know how common it is; but when I would have "episodes" with violent vomiting and diarrhea, I would run a low grade fever and sleep for long periods of time. These sporadic episodes happened from the time I was very young until I was in my mid 30's when my diet was addressed and changed to eliminate all dairy and minimize fructose as much as possible. Others may report mild fevers too, I don't know. It certainly makes sense that the body would act that way when it is under so much stress.

[colormist]

I do feel hot, but I've never tested my fever. I just get hot and sweaty, drink a lot of water, and have to pee a lot. Occasionally I'll get kidney pain (if it was a significant amount of fructose ingested).