2 children yet to be diagnosed

[robyn]

Hi,

I'm probably going to write a bit of an essay here 😊 But I've been working on this journey for a while solo now, and it's so nice to realise that there ARE others dealing with it too.

So. I have three kids, Georgina is my eldest, she has had food issues since I can remember. She was a reflux baby and had a very strong aversion to sweet foods from the beginning. My mother in law has what we think is undiagnosed hereditary fructose intolerance. But has never had tests or anything- she has just controlled her diet. Her brother has it too- although not as severely. So as we raised my daughter we just fed her the same kind of way my MIL ate. We made mistakes at times, but we slowly learned what she could and could not eat. She is 7 now, and seems healthy but I have noticed her diet has been more restricted as she is getting older. She is also prone to Urinary tract infections, and thrush and other dermatological issues around her bottom which i thought could be relayed to HFI. And the further research I have done has made me concerned about liver damage etc.

My second child has no food issues, but i have recently had number 3 and he is 4 months old, and he is very similar to my oldest. He is breastfed, and has reflux and we have just started solid food, and even plain rice cereal has made him scream for hours afterwards. (I checked the box and it had 3g of sugar per 100g of cereal). I am worried that he is even more severe than my daughter. And I would really like to do better with him than I did with my poor daughter whose diet was often still very high-fructose as a baby as we were still unaware of her condition.

We live in Australia, and have not had much luck trying to see a specialist for their condition. But I would really like to find one. I've recently discovered a pediatric metabolic geneticist who i thought might be helpful? I've seen they've recently been able to diagnose HFI through dna testing, is this true? What type of specialist has others seen?

We are fortunate in that some food in Australia seems to contain less sugar than it does in America. my daughter and MIL can eat certain brands of bread for instance, and lots of different crackers. But it woukd be nice to get more ideas for good foods for my kids. I'd also love to get an idea of what foods to try my baby on. I was wondering about avocado for instance? I would be open to giving my kids multivitamins- but they all seem to contain sugar!

Sorry for such a big post, but I would just love to connect with some people who 'get' it. And I would like to keep my children healthy.

Regards, Robyn

[rachael]

Welcome! I have a 2.5 year old who has HFI and this board is, by far, the best resource I've found. Metabolic is who diagnosed him and who we continue to see. The dieticians aren't much help, though. I've learned a lot more from the folks on here.

Like your children, my son had food issues. We started giving him food at 6 months but he wouldn't really eat until 13 months, and he would only eat plain yogurt. He also had developmental delays; he didn't start crawling until 18 months (shortly after his HFI diagnosis and new diet) and didn't walk until after 2. Now, he's nearly caught up to his peers and never randomly vomits anymore (it used to be every week or so out of the blue).

I highly recommend seeing the metobolic specialist and learning what you can on here. There are so many foods that need to be avoided, it's hard to keep them all straight. Good luck!

[colormist]

Hi Robyn!
Welcome to the board. I hope we can be of assistance during your diagnosis period (and maybe help you out with the diet, too). I don't know if we have anyone from Australia here. I have heard of their push for the FODMAPs diet in diagnosing dietary intolerances. This diet is not safe for people with HFI, so please keep that in mind if a doctor recommends it. I did a breakdown of that diet and the foods on it that are not safe for HFI. If you're interested, you can read it here: fructose-free.tumblr.com/post/124852846600/i-keep-hearing-about-people-trying-the-low-fodmap

Another note, I'm not certain of what Australian nutritional labels look like, but in the states they lump all sugars together and give the total amount in grams. This is not very helpful because not all sugars are bad for HFI. Only fructose and the sugars that break down like fructose are bad. Glucose and Lactose are good sugars. Lactose is found in almost all dairy food, so anything with milk or cheese listed in the ingredients is going to have reported sugars on the nutritional label. We typically have to read the ingredients list (and have the bad ingredients memorized) to really see if a food is safe.

DNA testing is one of the easiest ways to test for HFI, but that particular gene has to be previously documented as associated with HFI. There have been a few people on the forum that have reported only one of two genes necessary to have the condition, but their symptoms are much improved on the diet. Even though they don't have a confirmed diagnosis via DNA testing, they still consider themselves to have the condition. The only tried and true testing method is a liver biopsy--but this is very invasive and nobody wants to go through that if they don't have to.

I saw a genetic specialist for my gene testing. They took blood to run the test, but I hear nowadays the test can be completed with a cheek swab.

If you're worried about the vitamin intake, you might try CRON-O-Meter (or a similar dietary tool): cronometer.com/
It's free to use. You plug in the foods consumed, your individuals profile (age, etc), and it gives you a good idea of which vitamins and minerals that might be deficient. I had a few which explained my obsession with potatoes (potassium!) and made me realize I was severely low in Vitamin C.

You're probably not going to find a multivitamin for kids that is unflavored. You might, however, be able to discover what your child is deficient in and talk with a pharmacist about options. They usually have more tools at their disposal and could think of a proper solution.

Good luck and keep us posted on your journey! Feel free to ask additional questions as well.

[rachael]

RE: vitamins, my son takes NanoVM, which I order off of Amazon in the US. It is a powder and you mix it into their food. The parent company is called Solace. I'm not sure if it's available outside of the US.

[rysmom14]

Welcome Robyn!


I have a 3 year old son with HFI. He had the vomiting and sore, almost broken down skin on his bum all the time. He was fussy and was not a great sleeper. He was diagnosed through genetic testing around 1 years old. I will say that prior to the results coming back, they did a liver biopsy on him and didn't come up with any answers. I don't know if it was because HFI wasn't a thought at that point or not because it the biopsy was during a hospitalization. he had so many things going on and so many specialists stumped. I don't know if they take the biopsy and just test for certain diseases/ conditions.

Any ways! I hope you will find this board helpful because it has truly been the greatest resource for us. My soon sees 2 specialties. Genetics and then Gastroenterology. Genetics is the lead and gastro is involved because he has liver damage. he was formula fed and that stuff is packed with sugar . Genetics orders his blood tests to make sure his liver numbers are in order. They also started to order and elastrography ultrasound yearly to track any new cirrhosis to his liver.

The metabolic geneticist is a great person to see since HFI is a metabolic condition. maybe start with someone ordering a liver panel of blood work. if your child's numbers are off that may warrant them to be willing to look into additional tests. The DNA testing is not cheap and most insurances do not cover it.

as far as the multi vitamins, Rachael mentioned the Nano VM and I think that might be the only one.

I would stay away from the avocados. Their diet is going to be very basic, and because you are still unsure what the official condition is, I would rather be safe than sorry and stay very basic. It's so hard when they are little since they cant tell you what they are feeling. the plain yogurt and oatmeal are good options. even eggs are good and soft.

Let us know if we can help in any way. we are all trying to do the same thing stay happy and healthy!

Rysmom

[jenn123]

If /when the kids can swallow pills, kirkman has a hypoallergenic children's multivitamin/ mineral.

Also, 23 and me is a good option for I believe 4 mutations of HFI. I wish we would have done this as it would have been faster and cheaper than our doc route.

We also had a liver biopsy that came back negative. For ours, they did it specifically for a GSD, Hers disease. At the time, they did find fat on liver but did not test for HFI.

If we had thought to do the 23 and me, it would have saved us years as well as lots of money.

[rysmom14]

I was wondering about the 23 and me testing. Good to know that there are options for HFI! It might be the best start for genetic testing. The expense for the regular genetic testing through th genetic department was crazy. They did cast a wide net because they didn't know what they were looking for, but I think the testing cost around $20,000 and took over 9 month to get back. Thank goodness incurance covered the expense since he was an inpatient at the time it was sent out.

Jenn 123, The Dr. was also looking for a GSD for my son as well, so I am starting to think that a liver biopsy isn't all that great of an idea. It would be fine to confirm once you have the diagnosis, but genetic testing is really confirmation enough. GSD are for more common and there are so many types. I specifically remembering them going through all of them s they ruled them out while my son was in the hospital. Some of them are pretty intense too.

[jenn123]

I feel lucky that we have the mutation that shows up in genetic testing. I think liver biopsy is good for those who don't have diagnosis, but all symptoms, even after the genetic test. The BU website now has s list of mutations and there's a lot. Lucky for you guys that your insurance paid for the comprehensive test as all this genetic tests are expensive. Seriously bummed we didn't know or think to do the $200 23 and me test. 😝

[robyn]

Thank you all 😊 I've just been feeding my baby puréed oatmeal at the moment, and fortunately I am breastfeeding and plan to keep going as long ask can. so my fingers are crossed that I can keep him very healthy. As for tests- I'll just talk to the dr I guess and see. But I can't see tests being that expensive here in Australia fortunately. Our health system is pretty good. Are there any other baby foods people would recommend? I was thinking of trying some grains- any ideas which ones would be best? My daughter seems to eat quinoa and barley, but I think my son is going to be more severe than her so k wasn't sure. I was probably going to try puréed potatoes, chicken, spinach etc. Any other suggestions?

[colormist]

Cream of Wheat and Cream of Rice (not sure if you have these) would be okay to try. Plain yogurt, too.

[hfimomof3]

a strong aversion to sweet foods right from the beginning of weaning sounds like a red flag for hfi to me but I agree if you can get a firm diagnosis that would be much better than taking a guess. You would also want to distinguish between an allergy versus rejecting all sweet foods, but I'm assuming you already did that. re your son, i found that my babies always struggled a bit when moving to solid food. They tended to swallow a lot of air and get terrible gas. You wrote this almost a month ago so I'd love to hear your update, what foods you tried or didn't try. I can eat avocado and rice. Rice cereal, I dont' know. I think it's very pre-processed, which might make available any hidden fructose in it? I don't know, just guessing here. And who knows what they might put in it to make it tasty to babies. Have you tried just making some rice the regular way and then pureeing it and diluting it to babyfood consistency with some water?

I've been told the main nutrient to worry about with hfi is Vitamin C. This is because it's water soluble (ie you have to take it every day) so it doesn't get stored in your body for future use the way Vitamin A or Vitamin D do. And it's found mostly in fruit, almost all of which we can't eat. I cannot eat gummy vitamins (too sweet) but I found a white vitamin C tablet at my grocery (as opposed to the tablets flavored like orange or like rose-hips). It is a bit hard to swallow but I usually crush it up in a little water. I am not sure how you would get the correct dose for a baby, you would have to talk to your doctor about that. Obviously vitamin C deficiency is not good. How to get a reliable vitamin C source is something I think it's important to get sorted out for your child early on, if you are going to be doing an hfi diet. I can eat limes and lemons which contain C and little enough sugar that i don't taste it, but I usually get my Vitamin C from a pill.

I don't know about other nutrients. It's not an easy question because each child eats differently and it will also depend on what's available to your family.

Good luck and please update when you can