So pleased to have found this site!!

[emie]

Hello, my name is Emie, and I have a two year old son. He has been poorly since he was around 5 weeks old! To cut a very long drawn out story short, he has always had terrible acid diarrhea, low blood sugars, acid reflux and recently diagnosed with Colitis! I was at the drs/ hospital every week with him when he was younger due to his constant diarrhea and sickness, however always sent away with 'it is just a virus' ! I was told at around 7/8 weeks of age he may be intolerant to milk, took him off milk no difference in sickness and runny stools, they tried every single milk you could think of including goats and Oatley Milk, but he never could settle on anything.This has carried on ever since basically! The drs had tried eliminating all sorts of foods, but nothing ever worked. It wasn't until I made the connection with sugars, we took him off sugars and the bloating and loose stools were less frequent, but still bloating on a night. My Mum can not eat any sugars what so ever without been really poorly, but she was never listened to so never diagnosed at the time. Alternative therapies and just eliminating sugar works for her! My son had two episodes of a glucose  reading of 2.5 where he wouldn't wake up! Again Drs put it down to a virus! I was only listened to properly when my dietitian told me about a specialist in Sheffield. I asked my dr to refer us over and from there on in I have been listened to and my son has been tested for all sorts. He was diagnosed with Colitis last month (has anyone with HFI got Colitis?) With him been only 2 they said this was really rare. We then were reffered to a metabolic dr and a genetic dr. The metabolic team are going to be doing the sugar challenge on on my son this Friday to see what happens etc. The genetics team were rubbish! They told me he had so many symptoms of all sorts that nothing fitted to test him for! :/ We have been on a very, very long road and still continue to really struggle, never had any support, advice or anyone to talk to about his problems. Spending lots of time in hospital never knowing what is wrong is awful! He still has a really bloated stomach at night (popping out of his nappy) and his nappies are still very runny, just not acid/ burning nappies at the moment! I know when they turn like that and he gets grumpy he has consumed sugar from some where! I have a few questions if anyone can help me..
1) Has anyone experienced the bloating but always been told liver 'feels' fine?
2) A strong smell of fish in urine?
3) Colitis?
4) With the sugar challenge could he get a false negative? If so what can I do to help him next? I am so worried if this
comes back negative they will ignore me again, and stop helping! 
Also when he gets low blood sugars they tend to be over a longer period of time rather than a shorter one, why might this be?

[emie]

Sorry if it all seems a bit over whelming and doesn't make sense! There is just so much to it, it is actually hard to write it down in a shorter version! He still continues to have acid reflux too! an awful cough and was hates all food! It is like he knows it makes him poorly, so scared to eat it! 

[emie]

Please if anyone has any advice or just anything I would really appreciate it. For two years I have been searching for people who go through the sane as what we do, looking up his symptoms on the internet every week to try and help piece this mystery together and never found anything like, until now! It has been incredibly hard watching my son grow up in constant pain and never knowing how to help him, putting him through endless hospital admissions etc. I have never had anyone to talk to about his problems as no one could ever truly understand or advice me. Like I said I would be so grateful if someone would reply. x

[colormist]

To answer your questions:
1) I haven't had this experience or remembered anyone that had this issue.
2) With HFI, usually the urine smells sickly sweet.
3) I don't know what Colitis is, but I think I've recalled it being mentioned here before. You might do a search on this forum to see what comes up.
4) With the sugar challenge, if he has HFI, he will not only get a false positive, but he'll also get EXTREMELY ill. This is way too much fructose for an adult with HFI to process--yet alone a child. You should ask them to test for HFI first to rule it out before attempting the sugar challenge as hospitalization maybe be needed if he does have HFI.

Low blood sugar should be enough for the doctor to consider testing for HFI first. I don't think Fructose Malabsorption is associated with low blood sugar (I'm not certain though as Fructose Malabsorption isn't something I know a lot about).

Since you're not doing any testing until Friday, have you tried an elimination diet? What is he eating now? Are you keeping a food journal? Did he start eating foods aside from breastmilk at the age of five months?

If you can't get the doctors to test your child for HFI, you can do the genetic test yourself. Both parents have to be a carrier of the HFI gene in order for a child to have HFI. It would be less expensive (and more conclusive) in the end to just test your child for HFI, but if you'd like to rule it out, that might be an option.

[emie]

Thank you for replying. My son has been off all types of sugars for 2 months now, we have seen amazing improvements for this, not grumpy, tired, no low blood sugars and just a different child! I know when we have a slip up, because we go right back and it takes him a good week to two weeks to recover. He is eating chicken, rice, crackers, fish, natural yogurt, and home made glucose biscuits (only occasionally) they can often set a reaction off if he consumes too much. Colitis is inflammatory bowl disease, but I was told with him been only two this is really rare to have this at his age and something else will be causing this. So thanks I will have a search on here for the thread! They are admitting him for the fructose challenge on Thursday evening, fasting him, then performing the test on the Friday, I have read a lot on here about how the fructose challenge is not nice and very dangerous in HFI people, so do feel very nervous about this. I have been keeping a food journal and the only new links I can see is that if he has less dairy and only a very small amount of glucose, his tummy is not as swollen and doesn't 'go' as often. When he was on sugar he would go all day, very acidic which burnt him, and to begin with I didn't have a glucose meter so had to just assume his sugars were low, which looking back to what he is like now, they were. Once I got the meter it made it a lot easier to prove what I had been saying! He never settled on breast milk so stopped after he was 5/6 weeks old. They began him on solids early due to his problems with reflux etc, he first started with carrot puree and pears! (which he hated!) He has only just started to try new foods, for a long time he was so scared to eat anything other than dry crackers and white bread toast!
Many thanks for your reply, very much appreciated!

[charlie]

Hi Emie, I am really sorry , computer has had a virus so couldn't use it.

Welcome to the board, you have probably had the fructose test by the time you read this, I hope it went ok.

Your son sounds very like my daughter and her urine has a very odd smell to it when she is bad and her diarhea used to be vile and burn her really badly.

It could be fructose intolerance, but could also be Congenital Sucrase-Isomaltase Deficiency and I would tend more to think it is more likely to be this from what described. Look on www.csidinfo.com and www.csidcares.org for more details. It is what my daughter has eventually been diagnosed with.

Are you seeing Dr Campbell at Sheffield, he does test for it.
Anyway, let us know how you get on with today and we wwill go from there. Good luck, I hope it all went smoothly.

Charlie

[emie]

Hi, thanks also for your reply! It has been a very scary 24 hours! Tyler was admitted last night and was just doing his over night fast ready for his fructose challenge. However, i gave him his super an hour earlier than we would at home and by 2.00am his sugars began to drop! By 8 this morning they were at 2.4 and they had to give him a full tube of glucose gel and a glucose iv. When the metabolic nurse showed up to begin his tests, she couldn't believe it but said we could still go ahead with the fructose challenge. At 10 his sugars had reached 14 from not only all the glucose but fructose too, but 15 minutes later dropped to 6. She said even though he didn't go hypo it shows fructose is causing his body issues. The metabolic consultant where under is Dr sharrad and he bow thinks he has glycogen storage disease as well as a fructose intolerance!! Waiting for all results both genetic and all the bloods they took from him now! I knew his sugars drop if he eats his tea an hour earlier than normal but needed them to witness and see that to get the bloods, hopefully now after a long two years we may get answers!! So glad i have found people to talk to about all this! He is home now, but just need to keep checking his sugars and see how he gets on. He was so poorly with the low blood sugars then all that sugar on top ? The nurse said they don't do the tests if they have had to 'intervene' with glucose because it may not show anything because of the glucose affecting it. Looks like it did still show though!xx

[emie]

Also thank you for that link, that too sounds like Tyler after having a read through it ! X

[lucky]

Hi Emie,

I am Lucky. Nice to meet you.
I may have some info for you.

Have a look at some of my past posts.
I try to always cross reference info with links to make things easier to find.

Just click on my name "lucky".
It will give you a history of all my posts.

-xo

[emie]

Hi Lucky, nice to meet you too! Thank you for the post i had a look and i remember reading that when i had been reading through every post that seemed to be like Tyler on here. I even wrote the condition down to ask my consultant about!! However, i forgot with the carry on we were having! I have to take his sugars on a night for a few days and have to ring the results through next week, so i shall ask about it then as well as the one Charlie told me about! It is weird because both of them sound like Tyler! Acidic diarrhoea which burns if he has any sugar and then his blood sugars dropping far too low off eating only an hour earlier before bed :/ He also gets low sugars from sugar too. He also has Colitis, i am sure this is linked to what ever he has underlying! X

[lucky]

Emie,

In particular, this is a link (among others that I have logged under "lucky") to an issue often also needing exclusion alongside HFI.

It is called...

* Fructose 1,6 Bisphosphatase deficiency :: ( FBPase deficiency )

It mimics HFI symptoms when not well managed, but also has energy storage / retrieval type issues. If your son shows suspicious for metabolic fructose issues (HFI) but also storage issues, his specialists will probably also test for this. And also Glycogen Storage Disorders (GSD). Ours did for our son.

Have a look. The DNA testing facility is in Sheffield, England.

FBPase deficiency :: ( Fructose 1,6 Bisphosphatase deficiency )
hfiinfo.proboards.com/thread/1209

* Perhaps have an additional look thru my history of posts as I explain it's closeness to HFI in relative detail. And in easier terms (not medical terminology). You may find clues to your son's situation, in my son's journey.

Your son's in good hands now that he's clinically suspicious of metabolic issues and on specialists' radar.

Contact me here, publicly -or- private message me anytime.

Best,
Lucky

[emie]

Hi Lucky, i spent all last night reading through your posts over the years and wow, Tyler is just like your son! I will be ringing on Monday to ask if they are testing him for it or if they will consider it! Thank you!xx

[charlie]

Glad you got Luckys links, she is a fount of knowledge........

The problem with these sugar metabolic things is there is a myriad of them, and all sound so likely you have to eliminate one at a time and it can be a very scary process as you have found. Firstly it sounds like you are in good hands at the hospital and they are working with you. We had test for glycogen storage which were negative in the end, and several glut deficiency ones. When they are little their blood sugar is so much more reactive but that does improve as they get older, but it is good you have the means to monitor it.

Take it one step at a time, hopefully they will come back with answers for you soon. In the meantime hang in there and read Luckys posts, and Tammys too, some of her early ones as a mother are very eloquent and reassuring.

We have all been where you are now so don't be afraid to ask, vent, whine or cheer, we will understand.

[emie]

Awh thank you Charlie! I will go take a look, Lucky's have been a real comfort! I have never seen so many stories that are just like Tyler's! I have felt so alone with all this for so long and to see that others have been through this, felt the same pain and anger and watched their babies suffer but come out the other side is amazing! It feels awful having to wait for these results, i constantly have my phone with me on loud! At least Tyler is constantly eating so don't have to worry too much about dealing with low blood sugars! Thanks everyone for the support, it really is appreciated!!!! Xxx

[lucky]

Hi Emie,

Just wanted to check in to see how things are going...
Hope all is continuing to improve.

Try and rest when you can.
You've got to be exhausted from all of this.

Lucky

[emie]

Hi, thanks Lucky! Hope you are well too?! I was going to write on here because i feel like i am going mad! Still no results but told my metabolic nurse about fbpase deficiency. She had said she has never heard of it but interested to know more and is getting in touch with our consultant! Tyler's diarrhoea is still horrendous from last Friday, his stomach is the most bloated i have ever seen! People have even commented he looks fat!!!! ?? We also think we may have slipped up too! We gave him 100% coco powder thinking it had no source of sugar in it! I honestly thought coco didn't!! However, he has been really off, upset, moody, diarrhoea is even worse and his wee smells so sweet, it is sickly!! His blood sugars have been fine the last two mornings but hasn't been drinking much milk (gone off food again) this is a good thing.. But how??? At the hospital they dropped after 7hours with no food, this is after 12! I am left thinking what food is he having that is keeping his sugars ok? What if we slip up and they go in the night? So many questions run through my mind and struggling to sleep due to panicking!! Thanks everyone for all the support! This site has been a real life saver for me. Xxx

[charlie]

Hi Emie, what did you sweeten the cocoa with as it is very bitter, we use 100% with no probs sweetened with glucose.

He certainly sounds a puzzle, if it will help list what he is eating, we may spot a problem.

[emie]

That's what we did. We made him a cake with glucose and coco powder to make it as a nice treat! ? Tyler eats, white hovis bread, tuc crackers, cheese, butter, natural yoghurt, home made chips, fish fingers, chicken, white rice, tuna, soft cheese spread, bread sticks. That's it! His diet is very limited due to been scared to eat! Before he was only eating toast and crackers and that is it, so where doing better now he is eating those other foods! However, since we have had a set back he has gone back to not eating much other than toast and crackers! ? Xx

[charlie]

Ok, if he has starch issues which we do then flour is out because of starch, hovis bread has other stuff in as well as starch although white bread should be ok for HFI, also starch on that list is Tuc crackers, chips, rice, fish fingers, toast and crackers. What you list if safe ingredients (although things can sneak in manufactured stuff) should be ok for HFI but I can say that at that age Meg would react to it all listed above which is why we looked at starch.

Can I suggest if you feel comfortable doing it you strip his diet right back for a few days to home cooked chicken, and other meats, fish, cheese, is he ok on egg, milk for fuel if he ok lactose wise, however Meg is better on lactofree milk which is readily available in supermarkets. Give him little and often to keep blood sugar up. Age 2 he is not going to pull you up on the fact that you aren't giving him variety so there is no reason why he can't eat the same thing if nec for every meal or a few days. If starch is an issue then things should improve fairly quickly, that then gives you a starting block. Make sure he has plenty of fluids.

You could make burgers out of any minced meat or fish for finger food, will think of some more ideas for you too, Anyway, have a think. Keep us posted.

[emie]

Thanks Charlie i will look into trying that! Think that might help him a lot! I have a new question which is such a blur for me and very confused! As i mentioned Tyler's urine smells so sweet, well this morning he had slept around 15 hours and woke up quite cranky. I thought oh no his sugars are low, checked them and they were at 5.6! Is that normal after all that time! I am usually dealing with sugars below 3!! If anyone can help that would be fab! I am going out of my mind! He always gets low blood sugar, especially after a long time without food! Plus, he didn't drink much milk at super! X