New member, lots of questions!

[sonia]

Hi. I've been visiting this excellent site since June and have found the posts really helpful and encouraging. I kept thinking I'd join the forum when I eventually knew if James has HFI or DFi, so Iwaited..and waited... Now I'm beginning to realise this is going to be a LONG wait so I thought I'd bite the bullet and join you even though I don't have a diagnosis because this is a very lonely business on my own!
James was 5 months when he kept having episodes of acute vomiting and diarrhoea. I'd stop spoon feeding him for a few days until he was better and then try to encourage him to take solids again but after just a couple of days he'd be sick again. My GP tried to tell me it was a stomach virus, but James is my fourth baby and I KNEW it wasn't - pretty unlikely to get 3 in two weeks! Each episode of sickness was getting worse and eventually after eating just a few spoonfuls of pureed pear and baby rice he was so sick that he lost consciousness and we went to A&E. Terrifying! He got better spontaneously and I was advised to only give formula. After that we saw the consultant and dietician and James has been on a Fructose free diet ever since. He has been completely well, no vomiting and no diarrhoea.
Bloods were taken for genetic screening in June and the most common mutation has come back as clear. The rest of the test for some reason is still not back, but the Consultant believes they'll be normal, that it is NOT HFI (no family history, very rare) and is referring James for "some in hospital food challenges".
I have loads of questions but first I just wanted to introduce myself and ask if any of this is comparible with anyone else's experiences. One big question I have is whether VOMITING is associated with Fructose malabsorption / DFI or only with HFI in your experiences.
Because James was SO ill and now SO well, i was convinced he had HFI but with the Drs telling me how unlikely it is i just don't know what to think. It's getting harder to be strict with the diet as time goes on because i'm beginning to feel a fraud , perhaps he wasn't really that ill after all... it IS very rare.. it Is very unlikely...? Sorry this is a long message. Lots of pent up emotions! Thanks for all your support, I bet there are a lot more people like me out there who read these messages and get tremendous encouragement from them.

[Tammy]

Hi Sonia
Glad we can be of emotional help, even when we're not actually answering questions.
My daughter has HFI. Yes it is very rare, and yes it is unlikely, BUT that does NOT mean that James doesn't have it. No one else in my family ever had it that we knew. Could be a couple reasons for it. The main one being that it takes both parents for the child to have HFI. Apparently my family has just always carried the gene. Another thing is that this is a fairly new disease, as far as diseases go. It's really only had a name since around the 60's. Regina was dianosed - finally - at 2 1/2 yrs, and the Dr's had told me at that time if we hadn't found the problem then, she would have had liver failure by age 3. So........How many babies died when they were young back in the olden days, and no one ever knew why? So I don't know absolutely sure that we've never had HFI in our family. All I know for sure that we've never had any others in our family's memory.

One good thing about DFI being so common is that is gets these kids on the right diet, no matter the reason. They never even considered that my daughters problem had anything to do with her diet. I just kept feeding her everything. She never had any reactions to anything until after she started the diet, and her system got cleaned out.

So regardless of what James has, welcome - and I hope we can help in that at least your not the only one in this spot.
Tammy

[kristen]

I agree with Tammy...and even moreso that just cuz it got a name in the 60's doesn't mean it wasn't around before that...technically it would have had to at least been 'carried' before that in order for it to afflict a person then...

My personal belief is that it's all the sugar that's been put in our diets since around that time, in conjunction with the HUGE 'improvements' in the availablity of produce that have made it seem like it's a more prevelent issue. I'm of the belief that it's been around, just wasn't a problem cuz the availability (affordability) of sugars & fruits/veggies just wasn't there even 2 generations ago....now consider the amount of sugars in everything today versus then...

Anyway, seems we've got a lot of different symtoms around here...my son's main symptoms were projectile vomiting, dehydration, failure to thrive and an aversion to food. But he's had quite a lot of other symptoms as well.

We don't have a definative diagnosis either. There are a few ways to get one, but they aren't that easy to get. So for most of us (because we are dealing with little ones) the general treatment plan is: if restricting works, then restrict. And the diagnosis is listed as "Potential.........."

There are different types of fructose intolerance as you know, there is an easy to read article posted under the links section that describes the 6 types. This might help you to make some judgements into which is the more likely type.

As far as feeling safe...I have to confess I just did the same thing... I don't know if it's because my mind has gone numb with my pregnancy or if it's just that Coley is doing so well, like you describe with James, I guess it really doesn't matter...bottom line I'm getting bad reports from school and he's just not doing well here either... I think I was hoping that with the reduction in the fats that his fructose tolerance would have improved some (according to documentation FDPase should be able to handle some : well, it's back to restricting to the extreme again...

So, I'm not sure if any of that helps...I think for now, if I were you, if James does better on a strict fructose free diet, then I would keep it that way until you know more...meantime let us know if you have any questions about safe items...

Welcome to the group!
KJ

[janinep]

Hi Sonia,

I have been a member for quite some time, read the board often, but as my time is extremely limited I rarely have an opportunity to post. Your posting brought back extremely vivid memories of when my son became ill and two months later was diagnosed with HFI. At the time my son was 5 1/2 months old, he is now 6 1/2 yrs. old and doing awesome. At the time he was one of the youngest diagnosed case (thats year 2000), and because of this diagnoses was difficult. IT was a visiting Dr. from England that actually diagnosed him. His symptoms prior to becoming ill was very similar to what your son experienced. The response from the medical experts in my area was exactly the same as you received. He just has the flu, I am an over reactive mother ( I have two other children). I new in my heart of hearts that he was ill. He also had EXTREME vomiting and diarrhea and was losing weight because he could not keep anything down. The story goes on from their as you can only well imagine.

If you are interested I would be willing to share my story with you and my road to diagnoses and consequently my road over the past years. We live in Toronto, Ontario CANADA and are followed by a metabolic team of Dr's. at the Hospital for Sick Kids, In Toronto.

I find this web site extremely helpful and feel that I no each on of you personally. It is so very helpful to read issues that others are experiencing with themselves or their children and no that you are not alone in this world.

[sonia]

Hi Guys,
Thankyou so much for all your replies, they are really supportive and encouraging.
Can anyone tell me what hypoglycemia looks like in a baby? I think for me, the key to this is whether James became unresponsive and floppy because it was hypoglycemia or because it was a "vagal" response (kind of a self protecting "faint" due to the excessive vomiting). No blood sugars were taken at A&E. He recovered spontaneously after about 5 minutes without glucose / food, although he was then desparate for his formula. Has anybody else experienced this?

[Tammy]

I can't answer the hypoglcemia questions, as Regina never had any issues with it. That's Kristens area. But James sounds a lot like Regina to me. When she reacts, even to a small amount of fructose, she starts with a migraine-type headache, followed by vomitting, and then she does nothing. She has never actually passed out, but is extremely limp and floppy. One time she couldn't even pick her head up off my shoulder. She also comes out of it by herself, she just goes to bed, and the room has to be dark for the headache, and when she's better, she's INSTANTLY better. She just sits up and she's good. It depends on how much fructose she's had as too how long it takes. Couple of hours to couple of days.

Now keep in mind, though, Regina is quite often the exception on here. Several of the small kids do have hypoglycemia issues. But from all that I've read from their posts, most of them feed them crackers, etc to bring them out of it. It's just the fact that James comes out of it without eating anything is what leads me to think more like Regina. But I've also been wrong before. (Contrary to what I tell my kids)

And bottom line is always the exact same thing.....no matter who does the answering....is ...Check with your doctor. I know we ALL have problems with the Dr's. They just don't know enough about this. But it's still the best thing to run everything by them.

[Chelsea]

Gillianne had a very similar presentation. Constantly vomiting meals. We had her tested for allergies initially. I am told avocado allergies are really rare but for some reason she would vomit all the time. Antibiotics as a baby, I was always complaining about keeping them down. With what I know now....ugh.. we were always giving her the wrong things.

Gillianne never lost consciousness but she was always nursing, especially after meals which was likely a protective mechanism for her. We still don't have a firm diagnosis but are awaiting her biopsy on Nov 7. She is suspected to have FDPase, which essentially is HFI with some added components.

We haven't had the blood sugar swings that Kristen has experienced with Coley. Her only low blood sugars were after periods of vomiting, where a normal flu bug would put her in the hospital for a week at a time. That is partially from the suspected FDPase and partially from the renal tubular acidosis thats related to the FDPase.

As a lactation nurse we do see hypoglycemic infants and I can tell you the common symptoms are sweats, pallor and jitterness, almost seizure like. In retrospect (very common after diagnosis) Gillianne would wake in horrible sweats as a baby when she started sleeping longer stretches. She co-slept and our bed would be soaking wet, I would typically get worried and undress her bit and have her nurse, little did I know I may have saved her a few nights.

I am not sure I ever mentioned this before but I did have a cousin that died at 18 months of age of SIDS. So I have never complained about Gillianne waking at night especially to nurse.

Every once and awhile I start doubting the diagnosis as well. For me, that is why I need a firm diagnosis. I find hope sometimes, maybe the Drs are wrong and tomorrow will be better, I think that is very normal for any chronic illness. Sometimes I doubt myself enough to offer a no-no and it is my DD that suffers my doubts, so I just don't do it anymore.

[kristen]

I've been trying to think of a way to answer this that would be constructive, but honestly I think hypoglycemia in an infant is sort of misleading.

Like Chelsea said, 'looking back' I can see all the symptoms as plain as day...but at the time, telling the Drs that Coley would 'pass out' after meals, would wake frantic, would sweat or be icy cold, that he was vomiting all the time, somehow didn't add up to hypoglycemia in their minds (at the time).

It's scary because Coley started 'sleeping' through the night WAY too early, what I now know was likely him suffering from hypoglycemia...we are lucky that we didn't become another statistic...because regardless of the reasons around it, hypoglycemia is VERY dangerous in babies.

I think the complicating part for us, the thing that seperated us from what Chelsea & Gillianne experienced, is that Coley was getting a formula that made everything worse. So where Gillianne had something that she could count on to help her to feel better and she learned this quickly, Coley did not, and he too learned that quickly. In the end what made Coley feel better (not healthy, just the best of the scenarios he had) was to not consume anything. So he would go on little hunger strikes. This is when we would end up in the ER, but not from the effects of hypoglycemia (although looking back they were present) but rather from dehydration.

And when things got 'really' bad, clearly dehydrated (and likely hypoglycemic to boot) this is when we would see him faint. But more commonly it looked more to me like a 'food comma.' We used to joke about it all the time, but this was a relief to us in a way, because it meant there was a better chance that food would stay down if he was sleeping...course he'd 'nap' for like 4+ hours, then wake in a horrible state....

As an infant I recognized how getting those fluids at the hospital made him 'right' again...but in my mind that was the same as him eating. So together with his Drs we tried to figure out why he wouldn't 'eat' and maintain both his hydration & his BS.

Ahhhhhh, hind-sight!

So to answer your question definatively I think the only way to know for sure that James is suffering from low BS, is to either 'deduce' it based on what's going on, treat him for it to see if things resolve or to use a glucometer.

Hope that helps...
KJ

[sonia]

Thanks again for your replies. James' genetic test results came back today as normal (to within 90% certainty). Before, when I've thought about this scenario, I've been quite upset, but thanks to the opportunity to chew things over with you lovely people I actually feel quite calm and patient. Like you say, we'll carry on with what works, not slacken on the diet uness we find out he's definitely clear, wait patiently for the next step at the hospital, and most of all, stay in touch here.
Sonia x

[kristen]

Sonia, I'm glad that you have such a positive perspective on all this!

Just wanted to remind you that HFI is only 1 of 6 types of FI (see the post under links). So you have ruled out 4 of the known mutations for Fructose 1 Phosphate (or Aldolase B) deficiency with the genetic test.

So with that in mind I just wanted to say congrats on scratching one possiblitiy of the list!

What are your next steps?

KJ

[sonia]

Hi Kristen,
I'm sure I'll be eating my words in the near future because emotionally we go from "sorted" to "frantic" within a matter of days! What I meant was, that from James'symptoms i still think it's HFI and i was worried that if these tests came back normal the Drs would write us off and we'd always live in limbo .. never knowing. So I just meant that I feel less wobbly than I thought I would because I know that you guys out there have been through this and you know I'm not overreacting or imagining things. I think the next step for us is to read your link to 6 types of FI! We are waiting for an appt to see a new consultant (in -patient) with the view to do some food challenges in hospital. WE don't know much more than that yet, and it can take ages to get appts. I think we are going to have a fight on our hands to push for some metabolic checks when they do a challenge, I have a fear they will only look for GI symptoms which in the least could be misleading (because he may not show any if he's been off sugars so long - i definitely felt it was an accumulative reaction before) and at worst could be extremely danderous IF it was HFI and he had a serious reaction. But for now all i can do is get as much knowledge as i can and wait for that appointment. Am i right in thinking only "Colormist" has had a positive genetic test?

[kristen]

Actually that a question I have too...my impression is that there aren't too many that have been diagnosed (as HFI) with the genetic test here. That there are far more that have been diagnosed conclusively with the liver biopsy (which is really just a handful too), but the curious thing is that some of these have come up as negative in Dr Tolans test as well. Which leads to the question about whether they are not HFI, but rather one of the other metabolic FI types or if they are in the "20%" not defined in their test. And as a side note, according to our metabolic Dr that 20% is a reach, as it assumes that the number of mutations and their frequencies are known, which is not the case....

Sooooooooo, that certainly does leave a lot of head scratching doesn't it!

There are also some here that have been diagnosed as simply FI, with no specific typing, as their Drs feel that the treatments are all the same so it doesn't matter...which is mostly true. Some of these people have been diagnosed with a hydrogen breath test.

I would certainly make sure that you have a metabolic consult before that inpatient testing is done. That should help as you move forward.

And I hope I didn't imply something, I basically was just trying to say on one hand it's good, like YEAH it's not HFI (at least the 4 mutations that Dr Tolan tests for ) even though a definative would have been nice...but still there is a lot of ground to cover...so you've scratched some things, and you are moving forward.

I do hope that things continue to progress for you, you are right often Drs will throw their hands in the air and stop. It's hard to know how to handle that...which is knda what we went through this past summer...do you expose your child knowing full well what will happen just to provide data and evidence for these knuckle heads to work with or do you continue to restrict and bang your head against the wall getting them to understand? By no means did I mean to imply your work was done, was just trying to put an optomistic spin on it...like take a deep breath & forge ahead, ya know...

Welcome to the club! Yes we'll be here!!!!

KJ

[sonia]

We have had an appointment through to see the Metabolic Consultant on 1st November.
Janine, I know you're busy, but if you did get the chance to share what happened with you and your little one before then it would be really great. Also if anyone else has any advice it would be much appreciated.
Thanks so much.
Sonia

[kristen]

We saw many Drs before we saw the metabolic specialist. She was the one that diagnosed Coley initially with a 'potential fructose intolerance.'

I don't know for sure what the key pieces of information were that brought her to that conclusion, but we sat down and basically discussed 'life with Coley.' And she had us fill out a questionaire about our family history.

Knowing what I know now about FI, I think that the key pieces of information for her were likely Coley's food choices, his appetite cycling, and his FTT. But I also think his hypoglycemia, sleep issues and developmental delays also added to the information.

Over the course of several months his dx was changed from potential FI to potential FDPase due to his difficulty with fasting. However the Drs remain puzzled because his labs are not consistent with FDase, but his progress on the restricted diet has been.

We are now looking at how to move forward, but since we have been able to keep Coley healthy, developmentally on track and growing since restricting it just doesn't seem like a high priority to diagnos him difinatively since the treatment would be the same and it would involve invasive tests to achieve.

Hope that helps,
KJ