New anyone have GSD/HFI???

[razcav]

Does anyone else have this???

Hi My technically youngest (40wks Pregnant) who is 3yrs has been verbally diagnosed with GSD (Glycogen Storage Desease). In his fast tests we have also discovered that when he is already low we try to give him Fructose/Fruit to boost him he crashes further..

Alternatively we have given him fruit (banana) as a meal which is supposed to be low GI but fructose and he will crash in an hour. When I say crash he will have a blood sugar of about 2.0 be unconscious and needing glucose gel to absorb in mouth to stop him going into a coma..

We have had Gene testing for both GSD and HFI and have found out today that he has come up with a common mutation for HFI. They have to send blood to different lab to test for uncommon ones..

From what I've read this is not the normal immediate reaction with HFI but i'd say a combined reaction with the GSD.. He takes Corn starch at night to last though the night which works well.

When he has had Fruit he becomes generally unwell for days and frequent lows, have to watch him like a hawk.. Problem comes that he loves his fruit and I have 3 Children.. So they 'accidentally' give him some occasionally (Grrr).

We have got him on a very strict Diet.. Took us a couple weeks to remember that Tomato is a fruit.. So now he can't have all the fav's like Bolognese Ect.. Have recently discovered Coconut juice/Water which is GREAT for his diet and replaces most of the nutrients lost from fruit..


Any Advice anyone can give??

PS Glycogen Storage Disease is a process where sugar is taken into the body stored into Glycogen and the body either can't or has trouble releasing it back to insulin/sugar for the body to use.. Resulting in Low blood sugars, enlarged liver and heart.

[Tammy]

They were looking at GSD when they were trying to find what Regina had. When they sent the liver sample out, they tested it for many things.

While I don't know a lot about GSD, I do remember they told me that there are several types of GSD. Depending on what the liver couldn't handle would determine what her diet would be.

It could be a variant of HFI that more resembles GSD. Or just one of the GSD that resembles HFI since they are related. There isn't really a "normal" for reactions, either. Some HFIer's have immedieate reactions, while others don't have any until days later.

The bottom line will be to do what you're doing. Working with the Dr's and keeping him fructose free.

It's hard to keep something away from a 3 yr old when they love it.
I would look for artificial fruit. Letting him satisfy his craving in a safe way is better than having him crashing by accident. Maybe you can try freezing sugar free drink mixes? Generally, I find the cheaper the product, the more it's apt to be artificial. Just read the ingredients.

Good luck

[lucky]

Hello razcav,

My name is Lucky. Welcome. Nice to meet you.

I may be of some assistance. Our 10yr old son has been down this road and is still under heavy investigation in the area in which you are concerned. He is now doing very well, but there were many dangerous years in his life before we found a sense of balance in his health.

Our son has been investigated for MANY things including Glycogen Storage disorders and DNA testing for HFI and FBPase deficiency.

If your specialists are already on the "fructose hunt" and also suspect glycogen storage issues, there are a few tests you may find your child may still require to either diagnose or exclude other possibilities.

You have not mentioned one issue in particular that is very important. It is called Fructose 1,6 Bisphosphatase Deficiency (FBPase deficiency).

We were told it was like HFI's ugly cousin. It can look exactly like it... but not be it from an adolase B perspective. Yet the two seem to be very close in line genetically.

FBPase deficiency's primary issue is with storage and retrieval of energy --with a kick of fructose-- to add some interest. If it is showing at it's worst, it will then also tip into full blown HFI symptoms too. That makes it nasty.

So, in FBPase deficiency, if the primary issue is not well balanced, it will show all those symptoms PLUS take on all the symptoms of HFI too. Essentially now two metabolic problems in one.

This is the reason FBPase deficiency is very often initially mistaken for HFI first.

The difference is that DNA will not show HFI's adolase B enzyme issue in FBPase deficiency. But it is no less dangerous. And unfortunately, it is also known to NOT necessarily have the same instinctual avoidance of sweets (smells or tastes) as usually seen in HFI. This makes it a little more difficult for specialists to initially detect and then later manage (occasional cravings).

Specialists usually find their way to this test (FBPase deficiency) if a patient looks suspiciously like HFI... but perhaps not. Our son had this DNA test after his DNA for HFI came back negative.

The trick is to "feed" the liver (eat more often and not 'fast' too long) so it doesn't have to rely on conversion. This gets easier as the child ages as the liver naturally grows to a larger size and able to hold more. Fructose consumption -although possibly slightly more variable at times than HFI- realistically will have to be controlled down to an HFI diet. It is the fructose (and fasting or illness) that is a real trigger for the whole process.

Basically, if your child has this version, your specialists will give you proper protocol to be cautious of illness and avoid fasting and fructose. And then once the body is put back into balance, it is manageable. Tricky. Inconvenient. But manageable.

FBPase deficiency is even more rare than HFI. But there is a DNA test for this one also. Just remember, that for this and the HFI one... a positive result through DNA analysis is a positive diagnosis. But a negative (in the presence of continuing symptoms) is not necessarily a negative.

DNA analysis is wonderful, but all variations have not yet been mapped for detection through bloodwork. This is the reason for other tests (in addition to DNA) if initial results come back negative.

Sometimes it is necessary to stir up metabolic symptoms in different ways to come to a more clear conclusion. These tests are usually far less invasive and done first (unless child is extremely ill) before having to potentially consider an approach such as a liver biopsy.

Hope this helps...

Please let me know if I can be of any other assistance,

Lucky



* NOTE *

As earlier requested by ukbill, I shall re-post the testing information for FBPase deficiency in the Misc. section so it is easily available to all in the future.

[charlie]

Hi razcav, welcome

I recently found a new page explaining about HFI which is simple to read so easy to copy out for others but mentions about glycogen conversion, ie the liver is unable to convert glycogen back into glucose therefore once the energy is used up there is none left until the next meal. This certainly makes sense with my daughter, and may be the case with alot of these kids. Megs can start with great gusto but after 10 mins just runs out of energy, especially when she has any fructose going through her body.

www.nlm.nih.gov/medlineplus/ency/article/000359.htm

What quantities of cornflour do you use. Meg had the lumbar puncture for GSD but was negative too, it does seem that many of these kids have had these tests and all come out negative but maybe there is an element of it in their fructose intolerance because of the liver problems. But I have considered trying the cornflour idea to see if it makes any difference but just havent' been able to find how much to use.

[ukbill]

Razcav,

Welcome to the board.. and congratulations on the pending addition to your family

I hope we are able to help you in your quest to help your son.

When I read your posting I paused for thought.. I was not sure what to say that could help, now I see a few of our members have beaten me too it and far more professionally than I could have done as well

With regards to GSD I cannot help you with anything much, as I do not know the dietary constraints that will occur with this condition.. however I might be able to help in two areas.

!/. The cornstarch he eats as a supper before bed to give him food to digest over night.

If you mix this with a little non-digestable fibre such as Psyllium husks then they will slow down the digestion of the starch to even out the amount of glucose which is released into his system.

You can use it to thicken stews, soups and gravy's as well. So you can make the delivery of glucose from his food far more evenly distributed through out the day and night

2/. Tomato.

I find I can occasionally tolerate a small amount (1 teaspoon full in a large pan) of double or triple concentrated tomato paste. Also if I am given a salad which includes tomatoes I love to eat the seeds and the juice that surrounds them.

I have never had a reaction from doing this so I am assuming they are far lower than normal tomato in fructose.

Plum tomato's are better than normal salad or "beef" varieties as well

I am not alone (with other HFI'ers) in the way I occasionally eat tomato.

So maybe he can still have his favourite food for special occasions or if he has had a lot of painful time in Hospital ..

I hope this helps?

Keep smiling..

Codicil.. please check with your Medical Doctor before using Psyllium husks I cannot see a reason why they would cause him any problems however it may also slow down the adsorption of any medicines he might be on as well and this might not be so good.

Best wishes.