Child with HFI and liver problems

[raluca]

Hello everyone! I am new in this community and I am so very glad that I found you. My name is Raluca, I live in Bucharest (Romania) and I have 2 daughters (one is 10 and the other one is 2 years and 7 months old). My little one, Amalia was very recently diagnosed with HFI, after the genetic blood test.

We also did several other blood tests in parallel, and a few of them came out with small deviations: lower copper in plasma (77) and a few others. In order to eliminate the possibility of another genetic liver disease (Wilson), our local doctor recommended biopsy. Results came today and we are terrified… Steatosis level 3, signs of fibrosis...and some other things which I cannot translate in English, but I will have them translated soon…



Our doctor told us to wait. Diet, waiting and monitoring once in 3 months… But we are so scared and we have millions of questions.

Reality is that there is no relevant local experience with this disease. We were lucky to have it diagnosed so quickly, but from that moment, we feel that we are somehow alone; it’s not clear for us what are the necessary follow-ups (if any) and how can we manage this situation.



We need to know from somebody who has a small child with the same disease what are the steps to be taken further… for example if there are any additional tests to be done in order to cover all basis.

Or what are additional implications / effects within Amalia’s body, especially now when she is growing. What we should monitor constantly and what we have to do in order to keep things under control and help her have a normal as possible life? We desperately need a specialized nutritionist to help us with the diet… We are reading a lot on-line, but we still have many questions and need ideas.



So, is there anybody in this group going through the same experience? Somebody having a small child (around 2-3 years old) diagnosed with HFI? Or an older child, but who was diagnosed around this age?

Thanks a lot for feedback!

[charlie]

Hi Raluca, nice to meet you, welcome to the board. Certainly here you are not alone. You are amongst a wonderful community that understands exactly what you are going through at the moment, either as a parent or a fellow sufferer.
At this moment in time you will be feeling completely overwhelmed, that is natural and unfortunately there are very few medical professionals that know much about HFI so let me tell you now that you will very quickly for the sake of your child become the expert in this. Trust your instincts and open your mind to a whole new world of food...

My daughter is now 12, in the end she didn't have HFI but I struggled for years to find out what she did have and learned alot about HFI in the process. I don't know exactly how your results translate, have they ruled out Wilsons?

I see you have had the gene test so that really is all that needs testing as it came out positive. I will try to find a link to a file i found years ago about testing for HFI which is very clear. There are fructose challenges that can be done but these can be potentially dangerous especially if there are signs of liver damage already so not advisable.

However the good news is the liver has a remarkable capacity for repair and this has been caught early enough so with the correct diet your daughter should grow up into a very healthy young lady. There will be many hiccups along the way, many tantrums and tears but you will get there. How much of a diet is established already, there will be your first hurdle, persuading a toddler she can't eat alot of things that she will want to. For the best results you need to strip her diet back to very basics and keep on those for several months and then i would assume they will retest liver enzymes through a blood test. Hopefully she won't need to go through a biopsy again. But you also should see a massive improvement in her quite quickly.

So questions?? Ask away, no matter how trivial, for now this will be a minefield for you as it goes against everything you think makes a healthy diet. If you PM me your email address I can send you the list of foods we were given in the UK.
Follow Colormist on pinterest, I will leave her to post the link, and her blog. Another one to follow is Claudia Rivas who pops in from time to time as she has done wonders with her little lad Carlos and will relate well to the issues of feeding a toddler.

What foods does your daughter like? Write a list of what she has at the moment and we will see where we can help.
Don't get too excited about a nutritionist helping, unless they have really studied HFI they will give you alot of wrong info.

Good luck, keep in touch.
Charlie

[colormist]

Charlie gave me work to do! >

What Charlie said pretty much sums up everything. The diet isn't easy to learn and there will be slip-ups. Not only is it difficult for you to train yourself on what your daughter can eat, but then you have to train your daughter, family members, teachers, and caregivers. Anyone that might ever give her food without your knowledge has to know what is and is not allowed. I know you'd like to trust doctors, but you can't. Even though they might know her condition, they still might slip and give her a medication with an unsafe sugar in it. You're going to be her champion for a while, but the good news is that after she's old enough she'll become her own champion.

Here is a link to my Pinterest HFI-Safe food board: www.pinterest.com/colormist/fructose-free-diet/
I'm not sure what recipes are typical in Romania and there might be other foods that are safe that I haven't listed. Always do your research before allowing new foods. The Pinterest board includes notes where I've pointed out what to watch for in the ingredients. I've also noted whether or not a food may or may not be tolerated. Since you have a small child, I would omit the tolerated foods (broccoli, lemon, limes, beans) as they can cause a reaction depending on the quantity.

Here is a link to my blog about Hereditary Fructose Intolerance: fructose-free.tumblr.com

Feel free to ask any questions. No question is a bad question.

[raluca]

First of all, I am really overwhelmed by your kind words and advice! It’s not a little thing to find people, who can really relate to our problems, understand the situation and our feelings, what we are going through…
Thanks a lot to both of you – colormist and Charlie!
I have a million questions, but I will try to prioritize. The thing that scares us the most in this moment is not the diet – we started it already and anyway she refused many things until now, which were bad for her.
We are extremely scared by the advanced degradation of her liver: biopsy said that she has stage 3 steatosis and stage 2 fibrosis. Doctors told us that steatosis is not so bad, it is reversible, but we should be concerned about the beginnings of fibrosis. They also told us that we can do nothing else except keeping the strict diet and wait.

My first questions are: is there anything additional to help her liver recover faster and better? Any medicine? Any supplement in her diet? I suppose that some of you were confronted with a poor liver condition when you discovered the disease – I don’t know if it was as severe as ours, but… did you receive any adjuvant treatment from your doctors? And if you had guidance in this stage, can you recommend us a specialist / doctor who can also give us advice? How did you monitor the condition of your liver (what kind of tests / analysis) and how often?

Thanks again for your feedback!

[colormist]

Hi Raluca!

I just had a couple hospitalizations due to issues with my gallbladder and liver. I ended up having to have my gallbladder removed, but an unrelated reaction I was having with Fructose was complicating my test results. My Comprehensive Metabolic Panel (liver function test) had crazy mixed results. AST (SGOT) was 14x the normal rate and ALT (SGPT) was 9x the normal rate--they were COMPLETELY off the chart. My doctors didn't understand and because they had never seen the results of these test while viewing a person with HFI who was having a reaction to fructose, they didn't even know how to proceed. The ER doctors were just like "you seem okay aside from your test results" and sent me home. I was feeling much better a couple days later.

I have never had a liver biopsy, so I can't speak to that. What I can speak to is the fact that I spent the first 20-odd years of my life eating everything. I didn't know I had a medical condition that was causing me to avoid certain foods, I just knew I didn't like those foods. Given that the reaction I was having was for about 1 gram of fructose, I'd hate to even think about what my results would have been like had I had those results after eating a strawberry, apple, or cookie (which I was known to do before I stumbled across HFI).

My liver function test was performed a month later (and I made sure to be good and only stick to foods I knew were safe) to completely normal results.

I guess what I'm saying is that your daughter is 2 years old and you know what's causing her condition. She's only had about a year of possible fructose-related damage. I had over 20 years. I am currently quite fine (now that I don't have a gallbladder--which is a completely unrelated issue to HFI) now and feeling healthy.

Honestly, the quickest way to heal her liver is to avoid any and all amounts of fructose. There's not a drug or food that I know of that can help. A lot of us tend to crave certain foods (things that are high in starch/carbs/glucose, dairy, water and salty foods), so pay attention to what she's craving. I have been known to devour entire bags of potato chips when I'm having a reaction to fructose. It's really hard to stop once I get going. I've been doing this since I was a small child. Others crave saltines or glasses of milk. I'm not sure if the cravings mean anything, but they're rather voracious--so maybe it's a signal that the body needs certain nutrients.

I'm not saying the condition of her liver is a concern, but (aside from a liver transplant) I think the only thing you can do to help her be healthy & heal is to stay away from any and all fructose.

Now you have my completely concerned that I have fibrosis. I probably should have taken my doctor up on the recommendation to see a regular geneticist and keep a history of my liver function tests.

[raluca]

Thank you Colormist! We will take it step by step, and do our best.. We will be away from home for one week starting tommorow, and when I come back I will write an email to this clinic which I found: www.heidelberg-university-hospital.com/Metabolic-Diseases-in-Childhood.166.0.html?&FS=0%5C%22%20and%20%284%3D4%20xor%204%3D4%29--%20a%5C%27%20aNd%207462%3D7462-1%20aNd%20%5C%27%5C%27%3D%5C%27.
It is clear for me that I have to look for doctors outside Romania - we translated the analysis and we will send them in Germany to this hospital. They mention HFI on their website, so I suppose they have some experience.
Regading liver status, I didn't want to cause you concerns - but indeed, I think we should monitor it constantly. Blood tests on one hand, ultrasound.. I don't know for example how we can monitor fibrosis (which came out only after biopsy).. But I will check this when I come back and let you know what I found out.
Until then, I have a couple of quick questions:
- are olives ok in the diet? I read they are ok, but still I want to be sure..
- I don't use lemons anymore, when I am cooking fish for Amalia. Instead, to still keep a little sour taste, I used a little bit of "lemon salt" (I don't know if this is the correct name in English), which is citric acid. Do you know if this is safe? Or do you have any other suggestion for sour seasoning..?

thank you, Raluca

[charlie]

Hi Raluca,
I have emailed you that info.

If you are starting out with liver damage on a little one, as Colormist has said you are best to avoid as much fructose as is humanely possible. I would keep all foods as plain and simple as possible.
If you are doing fish, to give moisture make a little white sauce and add parsley if you have access to it, that will give a little extra flavouring.

Later, when her liver has improved, then start experimenting with flavours. Lemon will have fructose in it, citric acid may not be great for a little one starting out.

[colormist]

White vinegar would be an okay substitute for lemons.

Olives can and cannot be okay. I've found a few olives on shelves that have added sweeteners or sweet vinegars. The ones with onions are also not safe. Manzanilla olives have always been okay for me, though. Those are the green olives with red pimentos. Always read the label, though.

[heatherp]

Hi! I have a two year old with HFI and perhaps can help with diet related questions. We started with white rice and chicken and milk to drink. Plain and simple. From there we have expanded to noodles, cheeses, butter, beef, homemade breads and pizza doughs, pancakes, some mushrooms, and we have a meat processor specially make sausages and bacon for us. He is too sensitive for some things that others eat - lemon, cucumbers, celery, pickles, even the malted barley in flour seems to have a bad effect over time, so we are very cautious and conservative with his diet. He also has a Congenital Lactase Deficiency and so can not have lactose. Also, my little one takes a vitamin called Nano VM which you can buy online. It is made by Solace Nutrition. His vitamins are followed via blood work, as are his liver enzymes. This is pretty much it for follow up. We go in to his very wonderful specialists whenever they feel it is necessary, but in the end, it is really the diet that is required, and they can not make that happen, only we can. So we do! He is currently doing very well. He was diagnosed around 15/16 months. It is kind of a miracle to see how healthy he is now, because at diagnosis he was in rough shape. Ask away! You are in good company. I would guess that, if you are strict with diet, you will see liver improvement and perhaps other health improvements also. I know we have!

[Tammy]

HI Raluca. I completely agree with everything you have been told already. I just want to tell you that my daughter had very bad cirrosis of the liver when she was diagnosed at about 2 1/2 years. They had told me if we hadn't found the problem of HFI and started the diet she was looking at liver failure by age of 3. All they did for her was the diet and did liver function tests about every 6 months. The liver will heal itself if given enough time to do so. And the less fructose she eats the faster it will heal, but it will still take a long time.

My daughter is 33 now and she will always have little blood vessels that grew around the liver while it was so damaged but it is working just fine and is normal size again. So relax alittle and let yourself worry more about handling the diet and not so much about trying to heal the liver. It will heal itself.

[raluca]

Hello, I am back home (and on line) again :-)
@ charlie: good ideea with the sauce, I will definitely try it.

@ colormist: it's good to know that some olives are ok, because she really likes them. Indeed, I read labels lately more than I did in a lifetime.. In the end I found a more trustful source, it's a German website with products very low in fructose, www.frusano.com. I ordered olives from them, I am less worried this way. Maybe you know about them, if not, you can check them out.

@ heatherp: Nice to meet you! Given the fact that our children are almost the same age, I am glad that we can be in touch, so I will ask away :-) My first questions are:
- You said "His vitamins are followed via blood work, as are his liver enzymes"; I am surprised that our doctor didn't mention anything about these tests..Can you give me more details about them? How often do you do them? Are they expensive in US - I am curious to find out if these are some kind of special blood tests or they are common ones..? If they have a specific name, it would be helpful.
- the Nano VM suplement was recommended by your specialist after the blood tests? I will check it out, thanks for the recommandation.

@ Tammy: what you said really give me hope..thank you! You mentioned "liver function tests". I would like to know if they are the same as the ones heatherp is doing. So if you could give me more details, it would be very helpful.

Sorry for asking so many technical questions about tests... But right now it's like I have no doctor, really :-(. When the results of the biopsy came, we just spoke on the phone with her, she said to keep the diet and that she will see us in a couple of months.. no other details about additional tests, monitoring, necessary suplements.

thanks again for your help!

[rysmom14]

Hi Raluca! Welcome. Such a learning experience for all new HFI parents! I have an1.5 year old with HFI and we are following a very similar path as Heatherp. we meet with our genetic Dr. and a Liver Specialist Dr. ever 4-6 months. They run the liver Enzymes test. It is ordered separate than "regular" bloodwork that other people would have for routine checkups. This is the same blood test that Tammy and Heatherp are talking about. The purpose is to see how well the liver is working. It will measure levels of protein, Albumin, Bilirubin and the liver enzymes itself which can give a clue as to how well your body is able to break down the toxic substances. the Doctors can tell a lot depending on the results. Another test that sometimes is done is an ultrasound. I don’t think that having a routine ultrasound is something I would suggest. It's not the best test, but it can give you an idea how much (what percentage) of the liver is damaged. You mentioned the price of these tests. That is hard to answer because of our different levels of health insurance so I’m not sure what the whole cost actually is.

My son also has liver damage from before his diagnosis. His blood tests are getting closer to normal every time and he recently had a follow up ultrasound that showed the overall percentage of his liver is less damaged than before. Since your daughter is still growing healthy, liver tissue has an opportunity to grow if you take away the unhealthy/ un-digestible sugars from her body. That is why the diet is so important. As she grows healthy liver tissue can grow and it can function just fine.

As you are working though the diet, try to remember that variety isnt that important. My son eats a lot of the same foods every day. Once you have a good list of "safe" foods you can try to expand your options. I would rather he eats butter noodles and mac and cheese everyday than to have a setback.

Good Luck!

[raluca]

Hello rysmom, nice to meet you! Thanks for de details on the blood tests! The day after tommorow we will see our genetics specialist, and we will ask about them. Ultrasound we have planned for middle of August.
Regarding the diet, there is no much variety.. I will tell you what we eat, and maybe you can also tell me, so we can exchnage a few ideas.. We eat the following: 1) rice with turkey/chicken meat + few spinach leaves 2) rice noodles with cream sauce, few mushrooms and chicken 3) fish prepared in the oven (salmon, trout, mackarel) 4) home made bread with butter / Ementaler cheese / olives pasta 5) home made youghurt (I prepare it from fresh cow milk from a farm), 6) home made sweet cheese + cream 7) semolina with milk (instead of baby cereals) 8) eggs (plain omlet, boiled, with cheese)... That is all until now.. Not very much :-((
We still drink formula (Hipp), but we checked with the producer, it contains only lactose. I don't want to give it up yet, as it also contains all kinds of vitamins and minerals.
In addition, because we didn't find here a complex suplement of vitamins in Romania (I will have to oreder from abroad, I will check what heatherp recommended) we give her on daily basis: 10 drops of Vit C, one capsule of Vit E, Cod Liver Oil (10 ml) and Silimarine for the liver. These were recomended by the liver specialist, BUT without any blood tests..
Still, she is kind of pale, and has drops of energy during the day.. I am concerned and I really want to make some tests - that's why I wanted to know more details about them.

Thanks again for feedback,
Raluca

[lucky]

Hello Raluca,

I am lucky. Nice to meet you...

If you are seeing metabolic specialists soon, they will be very careful to check many things through blood work etc. Try not to worry.

But...

Please consider asking for *Vitamin D* levels to also be tested.
It can be added to any blood test.

It is EXTREMELY important as many (HFI or not) are unknowingly very deficient in it.

Vitamin D deficiency can compound many metabolic issues or cause serious health situations on its own. Being pale, tired (both can also be due to iron, B12), "sweaty head"... etc are but only a few symptoms. Truth is, vitamin D is OFTEN very much overlooked, and yet easily corrected if needed.

Please don't assume that all is well because your HFI child (or other children) are receiving a daily supplement. *It may not be enough* If you don't live in the tropics (with abundance of sun/warmth year round), there is a huge risk. Unless vitamin D is tested through blood work, you will not know if it is in a healthy range.

It was surprising for our family to learn how much was connected to vitamin D levels. And, to how much our son's health improved as D was corrected.

Have a Google search ::
Vitamin D deficiency dangers / symptoms.

Good luck on your appointments.
Your daughter is in great hands.

Lucky

[raluca]

Thank you lucky, and nice to meet you too!
good advice, I will ask tommorow.

You guys are all of great help.. My only guide in the last couple of weeks. Lots of health to you and your children!

[rysmom14]

This is what I feed Ryan. He has a couple teeth and is 1.5 years old. We havent ventured out all that far and he seems to do very well with it. Hope this helps!

Menu:
milk
Cheese ( we eat alot of cheese!)
plain yogurt (Danon brand)
Eggs
Spinach
Mushrooms
Greenbeans
white beans
Gluten free chicken nuggets ( I have only found 1 brand that is safe)
organic hot cereal with cinnamon
Pasta with butter
Turkey Lunchmeat (Applewood Farms Brand)
Sausage ( not sure of the brand, but its made with dextrose)
Ground turkey or chicken ( mostly from whole food store so no brines)
Purely O’s ( good substitute for Cheerios. Cascadian Farms- organic brand)
Cheeze it’s
Oyster crackers
Cheese puffs ( pirates booty brand)
Cheddar Pierogies (Mrs. T’s brand)
Pancakes ( Walmart generic mix)

[raluca]

Thank you rysmom14!
We made another step forward... found a specialist in HFI, who works in a team with dietetician. They are in Paris, France, and we will go there in the second half of September. This French doctor is part of a medical team who conducted a clinical study about HFI - professeur Phillipe Lebrune. I am looking forward to seeing him, and when I will get back I will share here all the advice and ideas from the dietetician.
One suggestion regarding yogurt, from our experience.. Amalia also eats a lot of cheese and yogurt, and we started to write emails to the producer (in our case not Danone, but also a French multinational company like them, Lactalis). We asked if their products are safe for Amalia and we were surprised by the answer: they said that their yogurt and cottage cheese (which we bought) also contains milk powder, and they are not sure if this ingredient has sugar or not.. So their advice was to avoid these products, the only safe ones being the milk and the Ementaler cheese.. I never imagined how many products contain sugar.. :-(
And then I started to make our own yogurt at home - I do it once a week, from about 1.2 L of fresh cow milk (bought from the farm). It's super easy to do and once a week it's enough.. Maybe I am paranoid right now, but I prefer the safest way possible..
I am not saying that you should do the same, but.. I wanted to share my experience.

I will keep you updated with what we do next..

warm regards,
Raluca

[Stefanie (Ziba)]

I am in tears that I have found this forum. Over the past 16 months, so many doctors have had so many incorrect theories about our son's issues. he was born at 33 weeks, severely growth restricted (IUGR). He was anemic but otherwise healthy. Then, at 7 weeks, his liver enzymes became abnormal and he was jaundice.

He was put on Ursodiol/Actigall. Docs wanted liver biopsy but we said no because they admitted they had no idea what they were looking for,...he continued to have nighttime/fasting hypoglycemia. As it turns out, he had been given sucrose in the NICU to calm him for blood draws and the Actigall was in a sucrose solution! Then, once he started solids, he would vomit immediately after eating fruits/veggies. My OBGYN actually mentioned GSD which led me to research and find HFI. HOLY ---! I could not believe that everything (down to his elevated bilirubin and his "lesions" on liver ultrasound) could be explained by HFI.

I am on a six-month wait list to see the geneticist here who knows about HFI and on another wait list to get to Duke's medical Geneticists. Many people have a doctor but no diagnosis. I feel like we have a diagnosis but no doctor!

I find such contradictory information online. My son had his first high fever this weekend and all I had was sugar free Advil. I swear that he is jaundice, pale and not well after taking it (it has sorbitol in it)). So , I begged our pediatrician to call in a compounding Rx for plain ibuprofen (no sugars). No one has even heard of HFI, let alone understands its nuances. My son has had all vaccines but is overdue for MMR (it contains sorbitol).

I am so grateful to have found you all. If you can speak to any of our circumstances, I am all ears. I also welcome knowing which docs have been helpful to those of you on the East Coast in the US.

[Stefanie (Ziba)]

Colormist, you are a lifesaver with your Pinterest recipes. Our son weigh only 18 lb. at 16 months old and still barely eats any solids! I am in tears at every meal. Thank you for these recipes!

[colormist]

Glad I can help! Were you the person that commented about the White Pasta on the HFI Food Pyramid? If so, I never even thought about how that was not the actual name for that type of pasta. I think I just got carried away with listing "white" in those ingredients.

I'm really impressed that you thought to check the ingredients on medicine! It's so hard to keep things sugar-free nowadays as producers tend to want to sweeten everything.

If he does come back positive for HFI, honestly you are past the worst hurdle. This group can help you with almost anything else.