Erin (8) Update

[answersforerin]

As many of you know we have been traveling a crazy journey with our daughter, Erin (8). She was diagnosed with Fructose Mal-absorption at the age of 8 using the Hydrogen Breath Test. She continued to have symptoms and it was decided we should remove sucrose form her diet. We saw an immediate change in her symptoms, but not all the GI issues were resolved. This is when we contacted a nutritionist who guided us through a full elimination diet. At this point we are down to white rice, grass fed meats/eggs, 1/4C of Cucumber slices 3X week, 1/4 C of Romain lettuce 1X per week, and 1/8C green beans 1X week. We trialed 1/2 ripe banana last week and she had stomach cramps, gas, bloating, skin rash, behavior changes, urinary accidents, etc. within three hours that subsided over the next 24 hours. Our nutritionist (and we) considered this a fail. Yesterday we introduced 1/8C raw carrots. She has had some cramping but nothing too terrible - so far.

We requested the HFI test but the geneticist refused stating, "she doesn't have HFI." I agree that her symptoms are atypical, but... I think it would be better to rule it out while we can.

Erin continues to have some symptoms that are easily a result of other issues, not HFI or FructMal and we are still struggling to get answers for her.

~Erin's Mommy, Sherry
http://www/facebook.com/answers4erin

[ukbill]

Sorry to hear that you are still having problems getting answers for Erin..

However the good news is the HFI diet is actually very healthy, contrary to most nutritionist advice you will get, if given a vitamin C supplement anyway.

So panic not keep her 100% HFI safe and she will prosper by the sound of it

Keep us posted of developments.. I will help with diet if I can

[colormist]

Sherry,
If you have the funds, it might be worthwhile for you to pay for the HFI test yourself. It's a few hundred dollars, but at least that would help you (possibly) rule it out. You could share the results with your geneticist. There's also another test swab test that checks for a litany of genetic issues (including HFI) that you can order online. Looks like they reduced the price recently to $99. www.23andme.com/health/fructose-intolerance/

That test isn't a be-all end-all, but it might be a good start. It does't sound like you're having the best time with the elimination diet.

[answersforerin]

We have the funds ready to go and have been arguing with DR's to get someone to order the blood draw so we can have the HFI test. At this point we are looking into seeing an integrative pediatric specialist. The behavior in general is incredibly better since removing the sucrose. We had removed the fructose and obvious fructans in April/May 2012 when she was first diagnosed. In July when we were not seeing great symptom improvement we removed all sources of fructose and sucrose and within weeks the behavior was getting better, the accidents had stopped... She still has plenty of other issues, but not being woken to the smell of acidic poo on a daily basis is a win in my book! I just need to find a DR that will look at the whole picture and help us!!!

[serene]

Sherry,
Just wanted to chime in that I feel your pain. It is difficult to go through the diagnostic process and not feel like you are getting answers. I am also planning to see an integrative medicine doctor to try to get some answers. I unfortunately was having the same kind of difficulty with getting genetic tests ordered and went out on my own to get the 23and me test and am waiting for the results.

Unfortunately, the whole process of working with the GI doc caused me to second guess myself and my awareness of my body when she told me that there was no way that I could be reacting to gluten, lactose, fruits and vegetables. So, I started to eat wheat again and after a month developed a return of many neurological symptoms that had been gone for years after starting gluten free diet. So, now I am working on also trying to get a definitive diagnosis for celiac. I am also pretty sure that I have lactose intolerance, but after her feedback decided to try it again. The bloating and nausea seem to be going away back off it, so I guess I need to try to get the test for that too.

In short, I think it is ideal if we can find a doctor that we can work with collaboratively. But, I also think that we are the "experts" so to speak on what is happening in our own bodies.

[charlie]

Serene

If you come back negative for HFI you may have a more severe form of fructose malabsorption and for that the fructans in wheat is a problem. some seem to have it mildly and can tolerate alot of foods on the low fodmap diet but others have to stick to the near HFI diet but also eliminate wheat which doesn't seem to be necessary with HFI. both gluten problems and FM start in the small intestines so I do think there is some other sydrome going on that makes multiple disaccharide absorptions a problem. The only way of knowing about this is either total elimination diet and re-introducing or small bowel biopsies.

Sometimes, the problem with self testing is ruling out the 'expecting a reaction' problem.

[answersforerin]

We have done a complete elimination diet and have been attempting to add foods back. With 1/8 C of raw carrots she had allergic shiners and fatigue, but no stomach issues (so far). With about 1/3 of a ripe banana she had stomach cramping and gas as well as none GI symptoms (behavior, fatigue, rash). If I give her sugar (table sugar/sucrose) she will have diarrhea, urinary accidents, gas, cramping, bloating, behavior changes, acidic poo, rashes, allergic shiners, fatigue, etc. If she does not have HFI (which I know she may not but feel we need to rule it out at this point), she most certainly has a severe FructMal issue.

Can others tolerate bananas and carrots?

Erin had some symptom relief when we removed gluten but not much. I don't think she has an issue with gluten. When I removed the dairy we did see a decrease in the severe constipation. She continues to get the strange rashes despite everything we take away so I am beginning to wonder if egg allergy is a possibility.

Sherry, Erin's Mommy

[ukbill]

Certainly not as an HFI no.. perhaps I can suggest you copy this onto Charlies FM site where there are a lot of specifically FM people who can answer that question from an FM standpoint?
Wishing you all the best in your quest.

[serene]

Thanks Charlie,
I am planning to pursue the small bowel biopsy. I had unfortunately not done testing for celiac when I first went gluten free. Because I was still having fructose in my diet I didn't realize the symptoms I get from wheat which are distinct from the fructose reaction. I get peripheral neuropathy symptoms, numbness in my legs, carpal tunnel syndrome, occasional blurry/double vision, migraine headache and joint pain. All of these problems had gone away after removing wheat, but I didn't make the connection. A lot of people without the "classic" symptoms get missed.

[charlie]

Serene, I have a feeling that for the celiac test to be accurate you have to be on wheat for a while before the tests are done, which can mean misery for some.

[answersforerin]

Yeah, Erin isn't tolerating bananas or carrots either. Carrots were delayed reaction, but bananas were immediate. C'est la vie!

[answersforerin]

Serene, for the Celiac test the University of Chicago Celiac group requires that you consume gluten for 12 weeks prior to testing. Bound to make you good and sick if you have a gluten sensitivity.

[answersforerin]

I just received a letter in the mail from our local health department informing me that my daughter has been diagnosed with HFI and ASD (Autism Spectrum Disorder). The DR that was listed on the form was her GI DR. Kind of numb right now and not sure why we would be finding out from the health department instead of from the DRs.

[ukbill]

sorry the ASD is a real bummer..

Compared to that HFI is absolutely no problem at all.

If I can be of any help with HFI then please let me know.. been as she is ASD as well it might be a really good idea not to get her used to sweet tastes so she can keep herself safe.

I know a bit about ASD my friend has a lad who is very extreme ASD and I know the problems she has.

I am sending you all the best wishes please contact me if you need HFI safe food ideas.

regards

Bill A.

[charlie]

Wow, how confusing. I can't remember if you said you were having the gene test or not. But yes, how come the doctors havent' told you. Are they to do with your insurance etc as I know you guys have to have insurance for medical bills etc.

You must be up and down again on a complete roller coaster, elation one minute as you have a diagnosis and something and black and white; but then also OMG, what do I do now.

Well, quite simply you carry on............... The HFI diet takes some getting used to and you are on the way there, just take it one step at a time.

The ASD, you may find, as her diet improves that improves anyway. Alot of triggers for Autistic type outbursts and moods are not allowed on the HFI diet so you may find they lessen anyway. I certainly know (and I suspect slight ASD with Meg) when she has something that doesn't suit her as she starts screaming and shouting and throwing tantrums a 2 year old would be proud of, and is less likely to cope out socially when she is feeling rough. I know one big trigger for alot of autistic children (although we are only talking spectrum with Erin) is chicken nuggets and other fried foods.

Google food triggers and autism, it comes up with quite a few pages.

OK, so she is ASD, once you have that label you can then take a deep breath and start to deal with it instead of going round and round in circles, but don't worry about it, there is alot you can do to help. Quiet, firm routines are best, consistency and giving them time to get their head round new things. Talk through before hand if you are going anywhere new, avoid rush hour for things, or arriving late. Be positive but don't try to pack too much into a day. I find step by step charts such as you can get from a site called picturebox help to print out for things like bedtime routine, meal planners, what they need to take to school, how to set up to do their homework etc.

I took the very difficult decision (as I am a single parent with no family backup locally) to give up work as being self employed I couldn't make ends meet, return phone calls, do reports and accounts and cope with this stressed, screaming, farting, vomiting child. This was the best decision I could have made, so we have to tighten our belts on benefits and not have luxuries, but the quieter, calmer, more organised life we have as a result is so much better. I recently had an Educational Psychologist assessment of Meg as I wasn't getting anywhere with the school and that came back clear Dyslexia (so she joins the Bill club............ god help us) and problems with her thought processing and possibly ASD tendencies although that day she was having a good day..................
This turned my life around as suddenly I felt empowered with the information and could formulate a plan and know I wasn't going mad. Then I could start planning and pushing for the right sort of help. And stop guessing..........................

So I hope in a way, although maybe its not the answers you necessarily wanted, that the info they have given you is correct and you can start planning forwards so life will become much easier for you.

Hugs to you all

Charlie

[answersforerin]

I am struggling to accept the ASD diagnosis. The HFI diagnosis confuses me because they never tested her. Never did the gene test, never! We have been following a completely fructose free (less than 0.5 grams per day), gluten free, and dairy free diet and she is doing remarkably well. She has regained weight and is up to 63.5 pounds. When her symptoms really got started she dropped to 42! She looks better and her behavior is better. Her sleep is still off and she has other issues as well, but the GI issues seem to be better. We have tried challenging the 0.5 g and she does not do well at all with anything greater than that. I just don't know how they can make a diagnosis like that without a test - some kind of quantitative evidence?!

[charlie]

Hi Sherry, I was wondering how they came up with that diagnosis as I hadn't seen that Erin had had any relevant tests. Did they specifically say HFI or just fructose intolerant as that can cover several conditions basically meaning they cannot tolerate fructose but don't know why.

As for ASD, I think its a diagnosis used more and more where there are behavioural issues that don't fit into any category again but it gives a label to move on with. I think there are alot of ASD undiagnosed in society that with that label would then move onto learning how to manage life better, and when some of them make dietary changes can notice a huge difference in how they cope with the world.

But that is great that Erin is getting better on the diet as that is a very restrictive diet. Maybe once her system has recovered (and you may have to allow months or even years) then you can add back in a food group and see what happens. I hope they are monitoring her vitamin and minerals and electrolytes though as that is a very limited diet. But maybe the elimination diet you are doing is the best diagnostic method you are going to get.

Maybe try the 23and me genetic test as it seems to check for alot at the same time and that may give you a surprising answer, from the feedback so far it seems to be legitimate.

Good luck, and good on you Erin for sticking to the diet so well, at your age that is such a hard thing to do when all around you are tucking in to what they feel like. Give yourself a gigantic gold star.

[nicoleh]

Hi Sherry,
I'm new here but I have a lot of experience with ASD.
I'll second Charlie's recommendation that you go get that HFI test yourself. it's a saliva test, you don't need any doctor's involvement at all to do it. Either way it comes back, you can take the result to your doctor to show either that she doesn't have HFI or that she does and you should be able to get some help from a metabolic dietician.

With regards the ASD, especially seeing you're having so much success on the restricted diet, I would highly recommend you look into some specific dietary therapy as outlined in "Gut and Psychology Syndrome" by Dr Natasha Campbell McBride. Once you know whether or not your daughter really has HFI, you could pursue this treatment - it really works! I"ve seen huge improvement in my own children's tolerance of dairy and gluten (which was ZERO prior to this program - now they can eat literally unlimited quantities) and also major improvement of autistic symptoms in a number of friends.

If your daughter does not have HFI, it is possible that she may react very poorly to sugars because of poor gut flora. Sometimes bad bacteria in the gut can ferment these sugars and they release toxins into the bloodstream as they multiply. This can cause a wide range of symptoms - some of the most common being constipation, diarrhoea, allergic shiners and behavioural changes. Erin's symptoms sound somewhat more like this than HFI, which is why I'd recommend the test. IF it's a flora problem - it's completely fixable with the GAPS program.
Good luck!

[answersforerin]

Sorry I have not been on here in some time. As for the questions about the HFI diagnosis, I have no idea where they came up with that because they have not tested her. They also have not tested her for ASD, but no one seems bothered by that diagnosis except me. So, I decided to keep fighting, keep researching and keep looking. This is what I have learned since my last update.

1. Erin does not have ASD! We have no idea why this information was given to the health department. Yes, there was a GI Nurse Practitioner that had mentioned Erin having Asperger's at one point, but there was absolutely no evidence. We took her to a DR who works with Autistic children, and has an autistic child of his own, and he said that she definitely dos not have ASD. He agrees that it was very odd that this would show up on her paperwork.

2. This DR agrees that Erin has more going on than just Fructose Malabsorption. We have not done the HFI test, but he wants us to continue with the idea that she does have this condition until we rule it out. This is based on the fact that Erin can tolerate only 0.5 grams of fructose per day, has immediate reactions to sucrose, and reacts to even the tiniest amounts of fructans or fructose.

3. Erin is compound heterozygous for the MTHFR mutations C677T and A1298C. We don't know how much this has affected Erin - yet. We will be supplementing to bypass this mutation once we get Erin's stomach under control.

4. Erin is only having BMs every 4-7 days and when they x-ray her there is no stool in the colon. They don't know why or where it is!

5. When Erin does go they are finding high lactobacillus and low bifidobacter levels, very high level of yeast (4+), Poor pancreatic function with low elastase, as well as with increased vegetable fibers, high cholesterol was found and is likely due to poor digestion and absorption, and a normal pH. I don't understand it all, but from what I do understand she seems to have SIBO (Small Intestine Bacterial Overgrowth) though she had a negative SIBO test using glucose (though she did become hypoglycemic).

6. Erin continues to have many other issues as well including temperature regulation issues, Vitiligo, Raynaud's disease, hyper mobile joints, etc.

7. We know without a doubt that Erin can not tolerate dairy and she tested high risk for the Celiac gene but did not test positive for Celiac. She has been gluten free for almost 7 months.

8. The GI doctor wants to do an endoscopy and a sigmoidoscopy June 27th and I think I am going to let her do this because a. it hasn't been done and b. it will give them the opportunity to view the mass on her rectum and decide what to do about it.

9. The biggest thing I have learned is that you are always best to shop around and get different information from different doctors but only if you have time yourself to do research too because sometimes you will have a better idea than they have as to what the best course is for your child.

So, we once again do not know if Erin has HFI or FructMal but her belly is happiest on the HFI diet so there we stay.

[nicoleh]

HI there,
my family also have mthfr problems right through. I take 1000mcg 5-mthf daily and it has revolutionised my life! one note: you'll need to supplement much more than you might think, especially at first, and extra especially if she reacts to chemicals poorly. a good holistic doctor should give you some guidance on that. also enquire as to whether she'd benefit from methylB12 or pyridoxal-5-phosphate (activated B6) as often those who fail to activate folate also have issues with these other B vits, and the MB12 in particular helps preserve folate stores. it's all about methylation and it gets complicated, so hopefully you have someone to give you good guidance there. Also, if she has mutations then you know you have at least one too so you may want to supplement 5-mthf yourself. The easiest way to check if you need to is get your GP to do a homocysteine blood test on you. if it's over 11 (really preferably it should be under the number of complete decades you've been alive, plus 1) then you may need to supplement (either just the folate or possibly the other 2 as well. trial and error).

Are you going on appropriate probiotics to rebalance her? getting flora correct can often be the most helpful thing one can do for one's health.

While she needs to completely avoid fructose there's not much to eat on the GAPS diet (really only meat, fats, stock, eggs) so you can't do that program completely. however there are some elements that you can do such as frequent (multiple times daily) ingestion of bone broths, the probiotics, some of the detox elements and perhaps digestive enzymes to help with starch digestion (which helps improve flora a bit as poor starch digestion really feeds bad flora.)

this type of program has a far higher success rate with long-term flora resolution than antibiotic treatment - which works well until you stop it - at least that is the information I have seen about the abx treatment of SIBO.

Our family and many of my friends have had outstanding success on GAPS and probiotics, so I just put this out there for you to think about if you want to.

Good luck for the endoscopy. Hope they find clues to help her.