Help!

[Benjamins mom]

Sorry this will be lengthy, but I need guidance and figure I should put all the info out there. My son has only been diagnosed with fructose malabsorption. He is 3 and 1/2 now and has only been eating solid food since he was a little over 2. At that age, his diet was limited, but I was still learning about all this, so more frequent overdoses happened. I started noticing he got the 'stomach virus' frequently and soon associated it with fructose ingestion and then it dawned on me it probably wasnt' the stomach virus, but he was probably hypoglycemic. No one else ever caught it and the true stomach virus usually spreads like wildfire in our house. Looking back to whenever he had an ear infection as a baby, he'd have horrible reactions to the medicine, I'd beg after the 3rd day for a different antibiotic and he'd always get the 'stomach virus' on top of his ear infection/cold/tummy cramps from the medicine. Well...a few months ago we finally got a Rx to take to the ER when he was in that state.

That state occured about a month ago when he overdosed on who knows what! (scary!!) I took my little Rx with him to the ER and they didnt' seem to know what any of the tests were and spent a lot of time on the unit computer looking things up. (His GI doc is about an hour an 1/2 away so we went to the local ER) He was hypoglycemic. His pyruvate was low, urea nitrogen was high, creatinine low, AST enzyme? high. There were a few other things highlighted, but those are the more major things I think. Anyways....his GI doctor insists his problem is strictly a small intestine problem and not a liver thing, like HFI. I don't know...I mean to me, it sounds like HFI or FDPase or something because he gets hypoglycemic. Do others agree? Well, when she gave me the Rx she said she thinks it's more than hypoglycemia....like his electrolytes and other things are off and he's in a 'metabolic disarray' and she wants to see what is going on, yet she seems convinced his fructose problem is a small intestine problem---he will only ever get a tummy ache if he ingests too much, and he just has 'something else' going on to explain the hypoglycemia. Yesterday I finally called them to see if they even received the fax of his labs and they tell me they only got 1/2. (what I mentioned above) I went to the ER today and got the report, and well..the above is all the bloodwork they did.

I don't understand why that isn't enough to suggest he has HFI or FDPase....or to test for those things to at least rule them out!?!! Is there some OTHER type of fructose intolerance?? We still have that Rx and basically are supposed to wait for ANOTHER bad reaction and at that time we are to call 911 and have the paramedics draw his blood at the house and 'revive him' if he's limp/hard to arouse. I'm not really comfortable with this. She did say don't 'risk his life' to get the blood drawn, I mean...give him pedialyte if he needs it, but I just don't understand what else she is looking for. Does anyone else?? Oh, and the ER medical records department today advised me to take him to Quest labs when he's in that state she said they know how to do all those specialized tests better than the ER. Do you really take a kid who is limp to the lab, or shouldn't a doctor at the ER see him? We did see an endocronologist within this past month and he immediately suggested it's HFI or FDPase and he is setting things up to send his blood to Boston and/or Duke for tests. However, he said he really isn't trained in this type of metabolism, few are...but suggests that is the type doctor we see. I can't find one. I've tried making appts with any endo doc in our area that had any training at Boston and they all only see adults and won't say anything further on the phone. Other doctors want us to finish up this thing with our current GI doctor, but I really don't know where she is going with this and we don't see her for another month. So, we're in limbo. I'm so frustrated right now and just need some guidance because I'm starting to not be able think straight anymore. I feel like we're back at the beginning when I was refusing to feed him and everyone was like 'there is nothing in the sweet potatoes that can bother him' 'you only gave him a tsp, I want to see the reaction he has when you give him a whole jar!' urgh!

well...thank you all for at least 'listening'!! Any guidance will be truly appreciated! I just hope and pray I can control everything that goes in his mouth and he never has another bad reaction. carrie

[Tammy]

I completely agree with Fred's answers to Kristen.
You do need to have some answers. And they have to be Dr agreed. For the future.

Think about this.
We ended up in the hosp last spriing. Unrelated (we think) problem but life threatening. They ran tests that they had to adapt because of the fructose issues. A CT scan that she had to drink some contrast for contained fructose. They had to use a different kind. The big thing....She ended up on a feeding tube for a short time. BUT the only one that she could have needed prior approval from the insurance company because it was so expensive. So if she wasn't officially diagnosed, they would have given her the one that contained fructose. "Mom's say-so" wouldn't have been enough. The Dr's are surprised she made it through as it is. I can't imagine what would have happened if they had given her fructose on top of everything else.

I do think the Dr controlled tests are the best way to go. I would try to get them to do it. But....as must be Kristens case, you still need to get the answers the hard way.

Now don't get this confused with just "experimenting" just to see what can and can't be handled. I just play it safe there.
But you need official answers.
Tammy

[Tammy]

Kristen,
I really do feel for you. I can't imagine how you're dealing with it. But I do think you are doing the right thing. Everytime you "fix" it at home, it doesn't get into his medical records in the right way. And that is what you need to do so it is all "professionally" documented.

I had to deal with a little of the "it's the Mom" thing, but they were always with other issues, not the medical ones. Listening to all of you, I guess we were actually lucky that her cirrohsis was so bad. That is what "made" them find out what the problem was. Liver failure wasn't a "mom" thing.

But now, looking back after her blood clotting last spring, I wonder if I would have pushed the "leg swelling" issues harder, rather than just "fixing" it myself by aspirin and propping of the leg and avoiding the "problem" times, maybe they would have looked at it sooner. As it was, things all worked out in the end. But it is why I really think it is best if you do this with Coley. It may be a lifesaver some day in the future when the Dr's really have to believe whatever the problem may turn out to be.
Good luck. We'll be thinking about you Saturday.
Tammy

[Benjamins mom]

Tammy, thank you for putting things into perspective and making me see straight on this! Ben woke up a little off today and so I measured his glucose level and he was at 57. It seemed safe to just take him to the lab and hopefully this time his GI doctor sees what she wants to see.

Kristen, I dont' know what the GI doc thinks about my fears for the worst case scenario. She does insist I do take care of him first and not rush him off for labs if I think his life is at risk. And she says giving him a little sugar to perk him up won't interfere with the labs. Maybe it will affect his glucose levels, but she doesn't think it will interfere with all the other things she wants checked---serum plasma, serum electrolytes, lactate/pyruvate, urine, and perhaps a couple more things..sorry, I don't remember. So, keep that in mind on Saturday/Sunday.... if he starts crashing too hard for your comfort...either call paramedics to take the blood at your home and then they can put an IV right in him to perk him up. If they take too long to respond to your home, give him something to make him better. Hopefully my GI doc is correct in that the little something won't interfere with the labs. Yes, the challenge is in your home, but you are prepared. It's not like he snuck that snickers and had a reaction that caught you off guard. You can have everything ready before hand, so actually...it is all controlled and is in the comfort of your home which is a lot more soothing for Coley, I'm sure. Remember, that as sick as he may get, when he gets to the level that you are not comfortable with, you can fix him with the glucose. You can be in control of that!

I wonder if you can call your local EMS squad and just warn them you may need their help this weekend. I'm on the squad in my town, we do pre-arranged transport for patients that need to go in for surgery and things....if I knew there was a kid that had a potential to crash in my town, I'd be ready to respond. Volunteer ems can't do IVs/draw blood though...so you'd need paramedics. See if you can touch base with them/or get withdrawl instructions from the lab/doctor before hand. Our lab and the ER has had to look things up, certain tests needed certain viles, etc. They both admitted they have never heard of some of the tests...so a little preparation may be necessary so you don't waste time when time is crucial for his health! It may give you some added comfort in all of this. Do you have a Rx for the bloodwork needed?

well..hang in there!
carrie

[Benjamins mom]

Thank you Kristen! I think the results take at least a week....maybe 2. We'll see. We see the GI doc in a month, so I'm probably not going to know much until then. I will keep all posted though. Hopefully my experiences can help someone else! :-)carrie

[Benjamins mom]

Kristen, just a little heads up...if you go walking into the ER with a kid that seems a little 'sleepy' you may still have to go thru the whole triage waiting thing. They're are probably not going to yank him out of your arms and rush him off to give him care. At times, the ER seems to treat you quicker if you go via ambulance. I drove Ben myself a month ago because it seemed safe, but they had me wait in the waiting room, then in a room for the nurse, then they moved me to a cubby to wait for the doctor. It was an hour an 1/2 before they started treating him!! That was nerve wrecking!! Today at the lab, I asked to be bumped to the top of the waiting list and they flat out refused. They said they have to treat in the order on the list and made me wait! So..it's just something to think about. I didn't want to bother my friends a month ago by having them transporting us to the hospital, it seemed safe to drive him. But the longer I waited there, the worse he got and the more anxious I became! If we had come parading in on a stretcher and I had the captain talking for me, I'm pretty sure things would've moved quicker. They just don't listen to us moms!

carrie

[Benjamins mom]

one more thing....because I had a Rx and 'had seen Ben like that before' no one but ME was worried about him. He was limp and couldn't open his eyes....no one cared! They knew he was under the care of a specialist and it seemed like they didnt' want to step on the specialists toes. We were using the ER as a lab, and that seemed to make us even lower on the triage list. The sad thing was...there was only 1 other patient in the waiting room!! I have no idea WHAT the doctors were doing with no patients....but we had to wait an hour and 1/2 for care!! I wanted to leave to the parking lot and call EMS to take us thru the doors again!! I don't know....it's all just frustrating. -carrie

[Chelsea]

Wow so much information here, I am so sorry you all are having to go through this. I do hope it gives you answers in the end.

"...sometimes we have to hurt our children for their benefit"

This is also what we have been struggling with and why I have decided to go ahead with the biopsy, so hard but it sometimes has to be done.

A couple tips from my ER ventures during times of crisis. "He is in a metabolic crisis" will get their attention. There is no way you will say that and wait 2 hours, they pay close attention to those words from my experience.

Also, go to a hospital you know does good work with children and has a pediatric unit. When doing the lab draws, make sure they understand the labs they are drawing before they start. I have had to instruct the nurses how to draw the lactate and pyruvate, because the tourniquet cannot be left on too long prior and it has to be drawn on ice. I have had the worst luck with those labs, finally the third time we tried they were successful in getting all the labs which showed everything we expected.

Hang in there, we are thinking of you!

[Benjamins mom]

Today was Ben's appt with a new GI doctor. He was nice, yet said he was confused about Ben's symptoms. He agrees withour other GI doc that the + breath test would indicate soley a small intestine problem (DFI) yet he doesn't understand why he can only tolerate such tiny amounts of fructose. He didn't think the symptoms showing up 9 hours to 3 days later made sense, he thought they should show within 3 hours. He also didn't understand how the symptoms could last a week. He doesn't understand the hypoglycemia thing either, and in fact thinks his LBS of 51 isn't that low....yet, Ben was LIMP and nearly unresponsive. He doesn't think he should have had a reaction like that with a BS of just 51. None of the other labs jumped out at him and he doesn't think that he has HFI or FDPase, but I plan on having the blood sent off tomorrow anyways because I need to know for sure. He said perhaps there is something else metabolic going on and we should see a metabolic doctor, which I thought we were with the endo doc who told us this was out of his scope of practice. He will talk to our regular GI doc this week and get back to me....I didn't feel like he thought I was crazy....but I didn't get answers. And I'd rather him not consult with our other doctor, but what can I do? Maybe together they will develop a plan for us. I forgot to ask about the body temp thing because I didnt' write it down. And I didn't ask about our dairy issues either since I know I want to wait until he turns 4 to challenge it again. I think I'm just back to feeling numb about all this.

But, at least Ben is in good spirits about his diet. I forgot to send a snack to school recently and they had a Father's day party...which I also didn't know about! Well...he sat there drinking water while everyone ate donuts, cookies, fruit and juice. He was totally fine and happy with his little cup of water. It didnt' phase him at all. My pediatrician pointed out that he IS a happy and active kid who seeks running and jumping for enjoyment, not food....so he's just not bothered if he can't eat the party food. At this point, I am used to the shopping and the separate cooking. I just think it's crazy that a couple grapes, a baby carrot or a stalk of brocolli sets him over the edge ....and then the hypoglycemia/unresponsive thing isn't very comforting...and I just feel like there is a connection between the two.

I dont' feel like I am exaggerating symptoms, or making this all up....but nothing I explained today made sense to the doctor. ...so now I too am just confused. And like Tammy said, an insurance company isn't going to approve fructose free meds down the road because Mom wants it. So, I want answers.

I dont' really have any questions for anyone....just wanted to update and vent.

:-)carrie

[benjamins mom]

Thanks, Kristen. My friend's son actually sees this GI doctor for his rare disease and she has been pushing me to get Ben in to him for a while. She thinks he is the type doctor that will do all the research if he doesn't know the answers, if he thinks there truly is a problem. I am hoping that is true for us. I know his reputation to be blunt and if he doesn't think there is a problem he flat out tells you....so I wasn't so set on going there with my Ben and his rare, complicated symptoms. I did get Ben's lab report, and several things were off...some things low, some things high, but he didn't see anything as an issue. He actually thought everything was within normal range...including the 51 BS. He told me to take it every morning for a couple weeks and I'd probably see BS in the low 50s yet he'd be running around active. He didn't think his symptoms that day were appropriate for that level and he did suggest perhaps there is something metabolic going on. Of course the ER report states he was sleepy, yet arousable....they didn't mention they rubbed his chest for 30 seconds with a brillo pad before getting a split second response. That was when they said 'he's fine, just tired, the doctor will be with you shortly' and they left me another 15 minutes with Ben in a state I call nearly unconscious. urgh!! Anyways, I really didn't get the impression today that the doctor didn't believe what I was saying, it was more like the symptoms didn't fit what he would expect them to be and that left him puzzled. I am hoping I am reading that correctly and that he truly will recommend the right doctor for us to see. Part of me does wonder though if he thinks I'm crazy and making this all up, because the symptoms just don't fit the 'norm'

I think I will call Ben's GI doc at CHOP in the morning to give her the heads up that this new GI doc will be calling her. I hope together they figure something out, but wonder too if they will just team up to tell me this is just the way Ben handles fructose and there is nothing for me to worry about. The doctor from today is going to call me in a week. Did I mention earlier that he told me to go ahead and send his blood to Boston/Duke tomorrow, but I will find that it comes back negative. We'll see.

Oh...side note....Can Ben have breakfast before his tests or do they need to be fasting?

well....off to pack for our camping trip!! We are leaving straight from the endo doc's office tomorrow! :-)

thanks again everyone for your open hearts!!
:-)carrie

[Tammy]

As far as it taking a couple of days to have a reaction, and it lasting a week......That is exactly what happens to Regina. She doesn't have the low blood sugar/hypoglycemia problems, but if she eats something on Sat, it's Tues or Wed before she reacts.

And a couple of grapes or a lone baby carrot is all it would take for her. She does ok with broccoli, but just a bit of something in 2 bites of steak with a seasoning on it was enough one time.

And even if the tests do come back neg for HFI, keep on them. Dr Tolan's test only finds 80% of the cases. His testing on Regina's blood came back neg. And hers was diagnosed with the liver biopsy, no questions about it.

Also, all her testings have always came back in the normal ranges. For everything. At one point our big medical center sent us to Philadelphia's children hospital, who told us they had no idea what the problem was. All tests came back normal. Even the first liver biopsy, which was just done with a needle, didn't tell them. But her cirrhosis just kept getting worse, which is why they finally did the open liver biopsy.

So keep your chin up and don't let them tell you it's nothing.
Good luck.

[benjamins mom]

Kristen, I am so glad you understand completely how I feel about all this. It is so comforting, especially when I feel like I will have to stand my ground to defend Ben's symptoms. Thank you!! Thanks also for the response on the tests. I haven't researched Duke's site to see what they do....I am just happy this endo doc is doing something to at least start ruling things out. I'm so tired of hoping we're on the right track only to find out we aren't, but here I am again hoping I will know something in the next few months. I know there are many in the boat with me on that one!!

We'll be away for a week. I'll let you know when we get back if I hear from the GI docs and what they suggest.

Good luck with everything going on at your end!! carrie

[benjamins mom]

Tammy, I just saw your post. I really appreciate your support also. Today the GI doc was sort of insisting Ben has the DFI type, but when I told him I gave Ben 5-6 grapes one time and that was way too many--he thought it was odd to be that sensitive. Usually the DFI kids develop problems because they drink juice all day long and they'd be fine with a few grapes. Ben had 2 babyspoon fulls of peaches when he was 4 months old and the reaction was awful...so I never gave him much more than that when I tested foods...and that little bit was always enough to hurt his tummy for a week. I gave him all those grapes that one time because I just couldn't take the begging and crying for them anymore...so I put a few in a little bowl and wished him well. That sure backfired and I felt terrible! I wish someone other than Mom's going thru similar things understood me...but at least I have that!! :-) carrie

[Tammy]

I didn't see the reports. I got a "this is it". But they were right. The good thing I had going for us was that I never dealt with any of the things all you moms are going through. Yes, she ate everything. And she didn't react to them back then. It's just that her liver kept getting bigger and bigger. It started at 7 months of age when we went for a doc apt, and stayed 7 days. At the end of 7 days, they released us saying, "we don't know what it could be, but we ruled out everything that would make her liver stop functioning immediately, so it's safe to go home and try to find it from there". So she continued to eat everything and her liver continued to get bigger and bigger.

The difference now is partly that they at least have an idea of what kinds of things to look for. When they did finally find HFI, it was because a new, young doc had just moved to this area from Boston. And he had seen one case of it when he was in Boston, and that person was from Toronto. (Fred? probably. lol Fred doesn't know this doc, but so many heard about Fred that it could have been). So he is the one who did the open biopsy and sent it off to some lab in Texas.

After the internet, and hearing of Dr Tolan, I wanted to be a member of his website. You had to have an official DX and get a password in order to post on it. So my Dr went through all the old microfish films (all old records went on these when they went computerized) and sent the info to Dr Tolan. That is when Dr Tolan said he'd be interested to test her blood. I got the password, but the site never did work quite right.

It was easy to start to the HFI diet because they told me at that time that she would have had liver failure within 6 months if the new doc hadn't found what it was. (she was 2 1/2 then). So we were very strict with the diet. That is when she started having the reactions that I talk about now. Not until her body was eating healthy - her healthy that is. So now its very easy to stay on the diet since she gets so terribly sick.

If I would have had to deal with all you do, I'd have been tearing my hair out. As it was, I just had a baby longer than most people do. A happy, pleasant baby that had slow growth (but always stayed in the low part of the charts-never below) and slow development (which they still aren't sure if it's related or not, most likely not) And other than the Docs telling me she had a problem, she seemed like a happy, pleasant, HEALTHY baby. So it might have been a good thing that they didn't tell you everything up front 20 yrs ago. They only really told me how bad things were after they had the answers. Of course the bad part of not knowing is it makes you wonder if all the tests they want to do are really needed. But I had a very good ped that I could trust.

I would have been screaming for answers if I could have given them all the info you have. Especially with the patterns you have seen.
I sure got my fingers crossed that this new doc will get the answers for you. Its sooooooooo much easier when you know what you're dealing with.
Tammy

[Chelsea]

Tammy, thank you for sharing your story of diagnosis. I had never heard how you found your way before and it really helped me understand a lot. I sometimes find myself doubting all this because I never saw the reactions that others have seen though we also haven't challeneged her since we suspected this, except with soy and we know how that turned out. Our path to diagnosis was so different.

[Benmamins mom]

So, we saw our primary GI doc again the other day. We are to 1. get a head MRI to rule out brain pressure etc for the vomitting/lethargy in the am....though I only see this a couple days after fructose ingestion. 2. got a referral to a metabolic doctor, so I am happy about that. 3. got a referral to an allergist because perhaps this is all an allergy? My pediatrician today showed me an interesting list....if one is allergic to birch, pollen and one other outside thing may also show allergies to melons, carrots, tomatoes, cucumber, plum, etc etc..there were about 14 fruits/veggies on the list....so perhaps there is some slim chance it's that, though I'm not convinced, but we'll see an allergist to rule this out. I asked if one would become limp from an allergy and she didnt' have an answer but then said they wouldn't with fructose either.... 4. We are to REPEAT the positive fructose breath test because perhaps we had a false positive 2 years ago and should make sure we are going down the right path. I'm sure everyone knows my feelings about this without me elaborating. I went crying to my pediatrician over this one....it was suggested he is observed for 24 hours, though I know reactions take up to 2-3 days. Doubt they'll put us up for the night for that long, and I'm definately not comfortable driving home 2 hours from the hospital with fructose in his system. I'm in tears over this....he's 14.5 kg so we'd have to give him 14.5 grams of fructose. That seems like a whole lot to me. Perhaps I'm totally wrong, but I think I limit his veggie intake to about 2 grams. Anyways, just wanted to give an update. Just posting this makes me feel better because I know so many understand my frustrations! Thanks!! carrie

[Benjamins mom]

Thanks Kristen. I'm off with my boys for a 6 hour drive to Rochester to visit friends! It will be a good mental break. I do wonder if the docs see something that makes hfi/fdpase obviously a no to them, but I wish they would explain it to me. Like my pediatrician showing me the allergy list, I think it's a long shot, but at least it was evidence that there are other things out there that cause reactions to fruit/veggies. As for the labs...1st attempt failed because the specific test they wanted to see was omitted from the Rx. The Rx was a foreign language to me, I figured it was all there. 2nd attempt, again, Rx was wrong again...I took Ben home, fed him and they called me back to the lab to draw more blood....well, I fed him...you know, he was crashing, blood was drawn, I wasn't going to leave him in that state! She said the labs were fine, but perhaps they wouldn't have been if the Rx was correct!!! As for the LBS, 2 GI docs agree that numbers in the low 50s don't cause one to be listless. Yet, we have no labs to determine what else is going on when he is like that. I Know that fructose causes that state, so I will just continue to avoid it. Scheduling appts wtih the metabolic doc is thru an answering service....so I left a message and they are supposed to call me back by 4 pm today. We'll see. I will definately wait to see the metabolic doctor before repeating the fructose test. It's just upsetting to me that they even suggested it! I need to get on the road.....thanks for the hugs! :-)carrie

[Benjamins mom]

Thanks Marcy, for opening my eyes that it could be something else. We started Ben's testing at 14 months as well, though I was pushing that something was wrong since he was about 8 months old. I just thought things would be resolved by now and we're basically wiping his slate clean and starting over. It's frustrating, but I am understanding more that there are many things out there, what he has is rare, and his symptoms are confusing to doctors. I know what to feed him to keep him healthy, so that is what I do and will keep doing until we get answers. And if that is the case, then a test now and then shouldn't work myself up over them. Like you said, perhaps we will find an answer! Thank you!!! carrie