Megan testing

[charlie]

Oh I have missed you lot. We moved house recently and the telephone company messed up our house move and we have had no line until today so I have only been able to visit occasionally.

We had our hospital follow up on Tuesday and Wednesday in London which was very helpful I think although we won't have any results for a few weeks. We arrived on Tuesday very stressed as someone smashed into my car and wrote it off an hour before we were due to leave, luckily we weren't in it! but didn't help when you are off to London with a young child for 2 days of tests. The mood was lightened slightly as we arrived to find a 5th hospital party in full swing and JLS ( a pop group from last years Xfactor that she liked) due to arrive at any moment to meet the children, we got a photo but didn't queue for an autograph.
Anyway, basically they were testing her blood sugar problem at last and did a 20 hour fasting to see what was going on. Megs is not the most co-operative as she has just had enough I think but she managed very well considering, especially as they waited till 8pm to put the canular needle in her hand ( the young doctor quite obviously didn't have children) and at 10pm tried to do a finger prick BM reading-Sandra knows all my trial with trying to do one of those and basically you haven't a hope in hell. In the end I had to pin her down. Anyway it was low but not too bad. So from 8pm she wasn't allowed to eat or drink. Then from 9.30 the next morning they took bloods hourly to check glucose, ketones and various other things. After 2 hours, so by 11 basically, she plummeted to 3.4 was pale, dizzy, had tummy ache and they were going to stop but she rallied a bit so they carried on, they test until 4pm or until BM drops below 2.9. She got near there several times but went back up and the cortisol showed her body was trying to pick it up but not succeeding. Anyway, bless her, they carried on till 3.30 but she was struggling, then they gave her a glucose polymer drink and some crackers and she rallied very quickly. I was surprised they then didn't take one last sample to see what it went to after glucose but they don't apparently but the nurse did say at one point it went to 2.
The relieving thing about the whole experience was they could finally see what I am talking about as they saw firsthand all the symptoms I have been describing, I just hope they come up with some solutions. It is the top department for this sort of thing and they are finding out more and more about it so keep fingers crossed.
The child in the next bed being tested has been diagnosed with a type of Glycogen Storage problem which is one thing on the list of possibilities for Megs and her treatment is so simple, she eats little and often and every 3 hours has to have cornflour (about 1/2 a cup ful) dissolved in water and that keeps her level. she doesn't have a fructose problem so she can eat anything she wants. But how simple would something like that be.
that is why I have pursued answers on Megs and put her through these tests as there may be a simple solution to her problems. It isn't right that a child that is growing well and is perfectly articulate can't read, write or add up just because she hasn't got the energy to concentrate at school.

Anyway thats enough from me for now. I'll keep you posted. Hope everyone is well

Charlie

[meaniejean]

Charlie-
It is so great to hear that you are on the road to answers! I will keep my fingers crossed that you will get a definitive result from the testing.

We are still dealing with issues here as well. We have been trying to fit all the weirdness into the fructose bucket, but they are not getting sugar and we are still seeing raging fits and pee accidents and all the rest of the wonderful symptoms that we thought were explained by sugar.

Oh well. On the plus side, we are starting the process of switching to the malabsorption diet. We'll see how that goes ...

Best to you and Megs!
-Sandra

[charlie]

Oh Sandra, yes we have had all of those, I thought they were worse when she had dextrose or glucose or her blood sugar was plummeting so I would plonk milk and crackers in front of her and she would usually start munching of her own accord. It used to help the rages but you had to do it quickly and without making an issue of it for it to work. The peeing accidents, well we have just had one and I don't know why as she hasn't had any glucose today, maybe a delayed reaction to wednesday, not sure but sometimes if she has had something that has alot of glucose she will pee for England within half an hour.

[Janice]

Hi,

We have 2 children with similar problems. Frustose, fruits and veggies, table sugars, etc. are a disaster. Hypoglycemia, sleep problems, rages, sugar & carb cravings, etc. Kind of a long story, but I think they may have "fructose-1,6-bisphosphatase deficiency". I have spent countless hours on the internet, our daughter has tested negative for HFI at Baylor (@80% detection), Chromosome Microarray at St. Louis Children's hospital(negative), doctors who don't think there is a problem or that she is bi-polar, Mentally Retarded (iq of 120!), Autistic,etc. Our pediatrician says "you seem to have things under control (not!), so why do you need an official diagnosis"!!
We are in Kansas, and are going to Cincinnati Childrens Hospital in January. I came across the Dr. in an old newspaper article on the net, and says"He would love to see our daughter" Let's hope. Our daughter is the one subjected to more of this, as she is more affected than our son.
The fasting issue comes up with the fructose 1,6 even with fructose, etc. out of the diet, so you may want to pursue this avenue as well as the other ones you are investigating.

[jejns1]

PS my screen name is jejns1.

Janice
Canadian living in Kansas

[charlie]

Hi Janice, welcome to the site. Yes, thank god for the internet as there are some of us who wouldn't have a clue still if it wasn't for finding sites like this. They are following up several routes on Megs currently, we think the fructose issue is more or less there but she may have a glycogen storage problem of sorts as well. However the blood sugar lows and attention and sleeping problems do seem to be a commonly recurring problem of children of this age. The problem is it is a very rare problem and they are still learning alot about it still, the London Hospital we are under now is one of the top metabolic centres in the country and they said this is a relatively new area to them but they are learning more and more each day. Some you never get a full diagnosis on but once you can understand what mechanism isn't working you can usually adapt the diet or timing of food to cope.
In England of course we don't need a definitive diagnosis for things but of course in some countries you need it for insurance purposes. However, as a parent, you want a clear answer and then you can deal with things better for you children.

Good luck, have a troll through old pages and you will learn an awful lot.

[jejns1]

Hi Charlie, thanks for the support. I have found lots of information on the Internet and it has been invaluable. Victoria's Endocrinologist referred her to the Genetics clinic at our local children's hospital, but they refused to even see her, as the felt she was "not sick enough"! She has been seen for Insulin resistance, which she does not have. I had to be very persistent that she had a HYPOglycemia problem not HYPER, which was proven during a 3 day Continuous Glucose Monitor, but then it was "not that bad". They said they only worry when the kiddos are convulsing or going unconscious. The doctors here seem to be desperate to not diagnose her.
I have come across some articles that suggest a connection between HFI or Fructose 1,6 Diphosphatase deficiency and symptoms of Glycogen storage disorder 1 or 0. FBP1 deficiency will cause problems with fasting as well as fructose (et. al) ingestion.
We have found if Victoria (an to a lesser degree, her brother) does not eat on a consistent basis, she will have mood, attention, and behavior problems and will start to become hypoglycemic. We keep a supply of Glucose tablets in the house and in my purse, just in case.
We will be seeing a Metabolic Geneticist in mid January, who said after I called to see if they diagnose and treat kiddos with these problems, that “he would love to see my daughter”. He does treat fructose problems, so we will see. He is in Cincinnati (thank goodness for airline points). I will update more about our visit, later. I hope that he will take us more seriously than the last 3 have.
Janice

[charlie]

Hi janice, good luck with all that, it does seem that with persistance you get to see the right department for answers but it does take a long, slow process to get there as these things are so poorly understood and because symptoms often take a long time to develop instead of say instant anaphylactic shock which needs immediate attention..However the longterm effects on not just the sufferers but those around them is pretty serious therefore is just as vital to get answers.
a common comment that has been said is "of course your child hasn't got fructose intolerance, they would be dead by now". or they would be more seriously ill. but no, maybe it is just the parent and child has used their common sense and managed it well.

[charlie]

Have finally heard from the hospital on Megs test, we couldn't make our appointment in person as we were "snowed in". her blood sugar readings went to 3 and apparently not any lower so they deem that within ok limits for her age and have signed us back to the general paediatrician, hey ho. they have added they will see her again if necessary.
I have got myself really down recently just through exhaustion and constant worry about it but thanks to a few stern talking tos from the like of Fred I have pulled myself together. My main worry is the passing out episodes of which she has had several recently and the inability to do her school work etc. Having spent more time at home with her and had to do homework from the computer it has been interesting to watch her reactions to work so i'm going to work with the school a bit to boost her self confidence in what she does. I think in the past she has felt so lousy at school and nursery when we weren't on top of her diet that this has affected how she reacts to work. for instance they sent a maths sheet of about 30 sums on one page and she threw herself about as soon as she saw it and got herself in a right 2 and 8 that it was too hard. However when I broke it down into easy portions she managed pretty well to do about 10 of them before her brain went silly and she reverted to say a 4 year old.
I'm also going to try and manage this better at home too, I've cut down work alot and outgoings to spend more time with her so this means I can do even more homecooking so I have planned a safe diet that is the same on each day each week if that makes sense and cut out any questions to see if that helps. She obviously does have energy related problems but that is becoming more and more obviously a common side effect of this disorder as you are all reporting, I think there just hasn't been enough research into it. all I do know is she has had enough of hospitals for now and doctors and we need to approach this differently before I end up with a very stressed neurotic child.

[chrisnyc]

Hi Charlie,
my bionic intuition says: you're going to work it out:)

yur a hero to boot!
C