Thanks raluca. Following the HFI diet has drastically improved the quality of my daughter's life. However, it is frustrating not to have doctors acknowledge it. At one time I even worried I might get reported to authorities for keeping my daughter on such a restricted diet if, as they claim, she does not have HFI then there should be no reason for it. But rather I find they are just indifferent to our situation. They've never told me to put her back on a normal diet.
It seems even with a diagnosis doctors don't understand enough about the disease to help patients manage it very well. I'm glad you found an answer and this board. Sounds like it has been a journey to get here though. If you don't mind me asking, how did you figure out? I am always looking for clues, ways I can rule HFI in or out, and it helps to hear others' stories.
Again, I'm glad you found the board and hope your daughter is feeling much better since her diagnosis.
Well Antonia…get ready for a long and very complicated story.
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.
Actually this is not really the subject of this thread, so I thought it is better to create a new one (called “How we diagnosed our child”) and post the same story there. On that thread maybe also other parents will share their stories, I am also curios to hear more experiences. I hope I am not breaking any rule by creating the new thread, I am not very familiar yet with how things are done on this board. Looking forward to keep exchanging experiences.
thanks!
