I've addressed the "what does this mean" in a different post, but I thought it was time to expand it.
I've often joked that my kiddo couldn't have been born to a more perfect family: I have a strong medical background, and it didn't take long before I was the one doing the educating during doctor's visits. However, the whole first year was incredibly intimidating, and much of that was all the new terminology that we all had to absorb. So here's some of those terms, and what this whole deficiency is (and the why and the how) translated into Regular English.
Glucoamylase Deficiency, Pancreatic Glucoamylase Deficiency
Both of those terms effectively mean the same thing. To really understand what it is, you need to understand some really basic anatomy. Everyone has a pancreas. It hangs out with the rest of the parts that my children affectionately call our Guts. Its BFF is the liver. They are so close, in fact, that they are practically attached to each other.
Anyway, the pancreas' main goal in life is to make dry heaves the most horrible-part of the influenza experience. See, that's when we all realize that there is this totally nasty stuff called Bile in our Guts. Terrible, terrible stuff when one has the flu. Crucial stuff if we ever want to eat food. Bile is just a whole bunch of different enzymes. The pancreas makes it, and sends it on down to hang out in the gall bladder until it's needed.
What are enzymes?
Well, when you were a kid did you ever lick a lollypop or eat half a carton of yogurt and then try to "save" it? When you came back it was all slimy and gross... and that's all thanks to enzymes. There are enzymes in our saliva too... in fact, one of them is amylase. Think of amylase as the Bruce Wayne to glucoamylase's Batman. They are very nearly the same, but just a little bit different.
Getting back to the pancreas- its job is to make all these different enzymes. It makes each enzyme separately, and then combines them all together into something that every overindulgent newly 21-year-old is far too familiar with: yep that's Bile. The pancreas, as we recall from 4th grade science, is made of Cells. Each cell has a different job, but many of them are tasked with making enzymes, and each enzyme-making cell only specializes in one particular enzyme. Of course, there are lots and lots of cells that are tasked with the same enzyme, so that there is enough. In order to do that, that cell needs to have the materials, and also have the instructions.
No one is completely sure, but we think that in Glucoamylase Deficiency there was a disastrous incident at the local Kinkos during the dna/baby making process, and the instructions that tell each cell how to make Glucoamylase were, for lack of a better term, all f'ed up. Some cells still muddle through, and sometimes they can mange to make a little glucoamylase. Sometimes there are a few renegade cells make a pretty wonky version of glucoamylase (which, in its wonky-ness, it totally useless) but most of the cells see the f'ed up instructions and say "to hell with it, I'm going to lunch".
The end result is that there either aren't enough cells making glucoamylase, or they just make it v-e-r-y s-lo-w-l-y. Either way, there isn't enough.
Why does this matter?
Well, there are two reasons. First, our bodies are cool and all, but most of our cells (especially our brains) are damn picky. They can only use glucose.
Glucose can come from a couple of places. One is, well, glucose. Found in your handy-dandy piece of fruit or candy necklace, you find it anywhere your sweet tooth is happy. All by itself, it's called a mono-saccharide (one-sugar). However, just like that weird gnome that is always on vacation somewhere, most of the time glucose doesn't like to roam the food pyramid alone. Sometime it'll hook up with fructose and boom! Common table sugar, or "sucrose". Sometimes it will just find another glucose buddy to bond with and boom! One of our nemesis... maltose. All of those are di-saccachrides (two-sugars). But sometimes it won't just hook up with one friend, but they'll have a block party and form a crazy conga line down the street. Then you've got a poly-saccharide (many-sugar), also known as our other dietary nemesis...starch.
Those enzymes that we talked about earlier? They kinda work like the little pull-tab thingy on a zipper to break apart the sugar molecules until glucose is all alone and yummy yummy cell-food. The cells can't use it if it's all hooked up and having a good old time with its buddies. Just like cheap beer is the fuel for every college party, glucose- and glucose that is all alone and not hooked up with anything else- is the only fuel for the little party that the cells like to call the Krebs Cycle.
So anyway. Because the enzyme-making cells are all f'ed up or out to lunch, all the starch or maltose just hangs out in the tummy irritating the intestines (making it harder for all the other good stuff to be absorbed), and is generally useless. Except to the bacteria that we all have in our Guts, of course. It like a bacteria buffet, and they chomp it up as fast as they can replicate. And when they're done? Gas. And bloating. And on and on... we all know the symptoms of Starchy Tummy are pretty miserable.
And this, in a nutshell, is what (and how and why) there is this thing called Pancreatic Glucoamylase Deficiency. Or Maltase-Glucoamylase Deficiency. Or, as we like to say because mono-syllabic words are way easier (yay Regular English!)... Sharky's "Starch Problem".
Showing posts with label Maltase-Glucoamylase Deficiency. Show all posts
Showing posts with label Maltase-Glucoamylase Deficiency. Show all posts
Sunday, July 1, 2012
Thursday, May 24, 2012
(What the heck is) Glucoamylase Deficiency: Our diagnostic Process
As a recap:
We had a very difficult time finding a pediatrician that would actually listen to us. Finally, I found the fantastic pediatrician, who is still my children's primary doctor today.
At first, as it routine, she recommended all the routine treatments and all the routine tests. Increase the whole grains. X-Ray to see if he's constipated. Metamucil. Miralax. More Miralax. But unlike our previous pediatricians, she was able to see through all the noise of his symptoms and his history. She was able to see that I wasn't one of THOSE mothers. (It probably helped that I had two other perfectly healthy children.) And one spring day, after an incredibly difficult week and almost at the end of my rope, I made an appointment. As luck would have it, it was the last appointment of the day.
I went in, ready to demand a referral, and frustrated enough that I was almost on the verge of tears. She sat us down and listened to us, really LISTENED to us. And that moment was when everything started to turn around.
She agreed that we needed a referral. But she also wanted to speed the process along. So she ordered all the regular tests, and quite a few that she thought were likely to be needed, so that when we arrived at the pediatric gastroenterologist we'd be ready to talk about what was, and what wasn't, going on. On that day, she spent over 45 minutes with us. By the time we were leaving, everyone else was gone, including the office staff, and it was well after regular closing hours. But we had made a plan, and for the first time I left a doctor's office with hope that we could find a way to make my child feel better.
During the diagnostic process, especially in the fall of 2009 and the early spring of 2010, life was incredibly busy and my memory is a bit fuzzy. In order to refresh my memory, I have referred to his medical records. If we discussed something that wasn't noted in his record, such as why a particular test was chosen over another, I can only speculate.
The tests that our pediatrician ordered were pretty common: tests for parasites, tests for reducing substances in the stool. Occult blood, pH, WBC, and other analysis (fats that shouldn't be there, etc). He also had some blood work- CBC, CMP, TSH, free T4.
When we saw our pediatric gastroenterologist, she did a scope (upper and lower) and did some biopsies. There was no evidence of celiac disease, everything looked pretty normal (though some unspecified inflammation was noted) and some biopsies were taken to check his enzyme activity. They were later sent to Mayo, who confirmed the diagnosis in October of 2009: glucoamylase deficiency.
It took quite a while before we got everything settled with his diet, and there were many times when his symptoms would flare up until I discovered the cause. When we first removed starches, I increased the amount of sweet potatoes he ate, and that's how I began to to realize that maltose was likely a problem too. By January 2010 he was maltose-free too.
In the fall of 2010 he started having more and more symptoms, almost as bad as before. We went to an allergist, who diagnosed a severe tree nut allergy. No nuts for him... we cried. In the office, in the car, and all the way home.
In January of 2011 we went back to be retested, because I wanted to be sure. The test showed that he had only a very mild reaction to almonds, no reaction to any other nut, and a very strong allergy to wheat. Though he was starch free, but I wasn't really focused on gluten-free after the negative celiac disease diagnosis (and a no-starch diet is effectively no-gluten too). Since January 2011, he's been gluten free too, and I've been much more vigilant about it.
In retrospect, I wonder if he had had some hidden wheat or gluten that had exasperated his symptoms. I'll never know, but after 4 months of no *anything* going back to a plain starch-free diet was a relief, and it suddenly seemed much easier. So we did get something very valuable out of that experience: it can always be worse.
At the same time that we saw the allergist, we requested a consultation with Texas Children's Hospital. Dr. Buford Nichols (no longer practicing as far as I know) was a pioneer with this disorder, and did a great deal of research. We saw a different physician in this practice (actually, two physicians) who was also very experienced with it, and was conducting a study on glucoamylase deficiency. He recommended several tests, most of which we had done back in our home city. The only one that was not completed was a Fructose Absorption test... there is no lab in our area that has the ability to conduct it.
The tests that he ordered: CBC, Celiac (blood test), CRP, SED rate, liver panel, lipase
The allergist recommended in January 2011 that Sharky start taking probiotics. The specialist agreed in February 2011, and told me that he's found that the "r" bacteria (rhamnosus, reuteri... all the ones that start with "r") are especially beneficial for kids with this deficiency. Perhaps they munch on starch? I don't know. But I do know that probiotics have been amazing. Sharky went from sickly-sick-sick-sick before diagnosis to sickly-sick on a starch-free diet to Just A Normal Kid after we added the probiotics to his starch-free diet. Amazing.
We had a very difficult time finding a pediatrician that would actually listen to us. Finally, I found the fantastic pediatrician, who is still my children's primary doctor today.
At first, as it routine, she recommended all the routine treatments and all the routine tests. Increase the whole grains. X-Ray to see if he's constipated. Metamucil. Miralax. More Miralax. But unlike our previous pediatricians, she was able to see through all the noise of his symptoms and his history. She was able to see that I wasn't one of THOSE mothers. (It probably helped that I had two other perfectly healthy children.) And one spring day, after an incredibly difficult week and almost at the end of my rope, I made an appointment. As luck would have it, it was the last appointment of the day.
I went in, ready to demand a referral, and frustrated enough that I was almost on the verge of tears. She sat us down and listened to us, really LISTENED to us. And that moment was when everything started to turn around.
She agreed that we needed a referral. But she also wanted to speed the process along. So she ordered all the regular tests, and quite a few that she thought were likely to be needed, so that when we arrived at the pediatric gastroenterologist we'd be ready to talk about what was, and what wasn't, going on. On that day, she spent over 45 minutes with us. By the time we were leaving, everyone else was gone, including the office staff, and it was well after regular closing hours. But we had made a plan, and for the first time I left a doctor's office with hope that we could find a way to make my child feel better.
During the diagnostic process, especially in the fall of 2009 and the early spring of 2010, life was incredibly busy and my memory is a bit fuzzy. In order to refresh my memory, I have referred to his medical records. If we discussed something that wasn't noted in his record, such as why a particular test was chosen over another, I can only speculate.
The tests that our pediatrician ordered were pretty common: tests for parasites, tests for reducing substances in the stool. Occult blood, pH, WBC, and other analysis (fats that shouldn't be there, etc). He also had some blood work- CBC, CMP, TSH, free T4.
When we saw our pediatric gastroenterologist, she did a scope (upper and lower) and did some biopsies. There was no evidence of celiac disease, everything looked pretty normal (though some unspecified inflammation was noted) and some biopsies were taken to check his enzyme activity. They were later sent to Mayo, who confirmed the diagnosis in October of 2009: glucoamylase deficiency.
It took quite a while before we got everything settled with his diet, and there were many times when his symptoms would flare up until I discovered the cause. When we first removed starches, I increased the amount of sweet potatoes he ate, and that's how I began to to realize that maltose was likely a problem too. By January 2010 he was maltose-free too.
In the fall of 2010 he started having more and more symptoms, almost as bad as before. We went to an allergist, who diagnosed a severe tree nut allergy. No nuts for him... we cried. In the office, in the car, and all the way home.
In January of 2011 we went back to be retested, because I wanted to be sure. The test showed that he had only a very mild reaction to almonds, no reaction to any other nut, and a very strong allergy to wheat. Though he was starch free, but I wasn't really focused on gluten-free after the negative celiac disease diagnosis (and a no-starch diet is effectively no-gluten too). Since January 2011, he's been gluten free too, and I've been much more vigilant about it.
In retrospect, I wonder if he had had some hidden wheat or gluten that had exasperated his symptoms. I'll never know, but after 4 months of no *anything* going back to a plain starch-free diet was a relief, and it suddenly seemed much easier. So we did get something very valuable out of that experience: it can always be worse.
At the same time that we saw the allergist, we requested a consultation with Texas Children's Hospital. Dr. Buford Nichols (no longer practicing as far as I know) was a pioneer with this disorder, and did a great deal of research. We saw a different physician in this practice (actually, two physicians) who was also very experienced with it, and was conducting a study on glucoamylase deficiency. He recommended several tests, most of which we had done back in our home city. The only one that was not completed was a Fructose Absorption test... there is no lab in our area that has the ability to conduct it.
The tests that he ordered: CBC, Celiac (blood test), CRP, SED rate, liver panel, lipase
The allergist recommended in January 2011 that Sharky start taking probiotics. The specialist agreed in February 2011, and told me that he's found that the "r" bacteria (rhamnosus, reuteri... all the ones that start with "r") are especially beneficial for kids with this deficiency. Perhaps they munch on starch? I don't know. But I do know that probiotics have been amazing. Sharky went from sickly-sick-sick-sick before diagnosis to sickly-sick on a starch-free diet to Just A Normal Kid after we added the probiotics to his starch-free diet. Amazing.
Wednesday, May 9, 2012
(What the heck is) Glucoamylase Deficiency: What we experienced
So here we are, approaching the third year since diagnosis, and I realized I've never written about WHAT this deficiency is. So, this is our experience:
Our little Sharky** was born just a wee bit early, and perfectly healthy. As with his later siblings, I had to supplement his feedings with formula. Which, for him, was AWFUL. I have never met a more unhappy little person than he was those first few months. Finally we tried an (expensive and) special hypoallergenic formula, and all was well. For a while.
When Sharky became a toddler his real problems began. At his 12 month check-up he was a robust 32 pounds, and he would spend the next 11 years falling off the growth charts. I suspected that there was something diet-related going on, and I put him on a gluten-free and corn-free diet for about six months. I also really restricted sugar, noticing that during the Candy Holidays (Valentine's, Easter, Halloween) his problems were exasperated. None of that worked. So I focused on making sure that he ate lots of fruits, vegetables, and whole grains, with as few additives and preservatives as is possible these days.
He was always around the 80th percentile for height, but his weight was always a concern. At about age 3 we started the visits to the doctors. At first we were limited, and he had to see a base clinic doctor. And, as is common (especially then, and especially overseas) he almost never saw the same doctor twice. So, based on his symptoms, we were told over and over that he was just constipated. Increase the whole grains in his diet.
We moved. We found a wonderful civilian doctor, who started (as most doctors would) with the presumption that he was a normal kid. Increase the whole grains. Increase the veg.
Our civilian doctor retired after about a year. We found another. She was great, but redid most of what had been done before. He had an x-ray that showed an incredible amount of gas in his gut (no wonder he was in so much pain!) . Increase the whole grains. Try metamucil, because surely he must be constipated. She left to take a teaching position. So we found another doctor. At this point, he was about 7 years old.
The doctor we found is a doctor that I will forever be grateful for. Tina Haynes, of Mid Kansas Pediatrics in Wichita, Kansas. She's a general pediatrician, and like all the others she assumed his problems were normal at first. Increase the grains. X-Ray. Metamucil. Miralax. But unlike all the others, she was able to see through all the noise of his symptoms and his history. She was able to see that I wasn't one of THOSE mothers. (It probably helped that I had two other perfectly healthy children.) And one spring day, after an incredibly difficult week and almost at the end of my rope, I made an appointment. As luck would have it, it was the last appointment of the day.
I went in, ready to demand a referral, and frustrated enough that I was almost on the verge of tears. And then, it all changed. Dr. Haynes sat us down and listened to us, really LISTENED to us. And that moment was when everything started to turn around.
She agreed that we needed a referral. But she also wanted to speed the process along. So she ordered all the regular tests, and quite a few that she thought were likely to be needed, so that when we arrived at the pediatric gastroenterologist we'd be ready to talk about what was, and what wasn't, going on. On that day, she spent over 45 minutes with us. By the time we were leaving, everyone else was gone, including the office staff, and it was well after regular closing hours. But we had made a plan, and for the first time I left a doctor's office with hope that we could find a way to make my child feel better.
What were his symptoms?
Diarrhea. Terrible- the kind that you get with food poisoning or a really bad flu. The kind that sends you running for the bathroom, praying that you'll make it in time. This was a pervasive symptom, and he had it nearly every day from toddler-hood until we got the hang of this starch-free diet after diagnosis.
and finally, when he was about six Sharky started getting hurt when he should have been completely fine. A broken arm jumping off play equipment, when any other kid would have barely had a bruise. Cracked ribs from jumping on a trampoline. And on, and on....
Skarky's last visit to the ER was just before the diagnosis, and after changing his diet his health has dramatically improved. Now he doesn't ever get hurt, aside from the occasional skinned knee just like every other kid. He doesn't have any pain, or vomiting, or diarrhea, or bloating. Just like every other kid. And, just like every other kid nearing the teenage years, he's trying to figure out the world. And to me, all the perfectly normal problems he has are the most wonderful things in the world.
Well, most of the time, anyway.
**Don't worry, Sharky isn't his given name. :)
Our little Sharky** was born just a wee bit early, and perfectly healthy. As with his later siblings, I had to supplement his feedings with formula. Which, for him, was AWFUL. I have never met a more unhappy little person than he was those first few months. Finally we tried an (expensive and) special hypoallergenic formula, and all was well. For a while.
When Sharky became a toddler his real problems began. At his 12 month check-up he was a robust 32 pounds, and he would spend the next 11 years falling off the growth charts. I suspected that there was something diet-related going on, and I put him on a gluten-free and corn-free diet for about six months. I also really restricted sugar, noticing that during the Candy Holidays (Valentine's, Easter, Halloween) his problems were exasperated. None of that worked. So I focused on making sure that he ate lots of fruits, vegetables, and whole grains, with as few additives and preservatives as is possible these days.
He was always around the 80th percentile for height, but his weight was always a concern. At about age 3 we started the visits to the doctors. At first we were limited, and he had to see a base clinic doctor. And, as is common (especially then, and especially overseas) he almost never saw the same doctor twice. So, based on his symptoms, we were told over and over that he was just constipated. Increase the whole grains in his diet.
We moved. We found a wonderful civilian doctor, who started (as most doctors would) with the presumption that he was a normal kid. Increase the whole grains. Increase the veg.
Our civilian doctor retired after about a year. We found another. She was great, but redid most of what had been done before. He had an x-ray that showed an incredible amount of gas in his gut (no wonder he was in so much pain!) . Increase the whole grains. Try metamucil, because surely he must be constipated. She left to take a teaching position. So we found another doctor. At this point, he was about 7 years old.
The doctor we found is a doctor that I will forever be grateful for. Tina Haynes, of Mid Kansas Pediatrics in Wichita, Kansas. She's a general pediatrician, and like all the others she assumed his problems were normal at first. Increase the grains. X-Ray. Metamucil. Miralax. But unlike all the others, she was able to see through all the noise of his symptoms and his history. She was able to see that I wasn't one of THOSE mothers. (It probably helped that I had two other perfectly healthy children.) And one spring day, after an incredibly difficult week and almost at the end of my rope, I made an appointment. As luck would have it, it was the last appointment of the day.
I went in, ready to demand a referral, and frustrated enough that I was almost on the verge of tears. And then, it all changed. Dr. Haynes sat us down and listened to us, really LISTENED to us. And that moment was when everything started to turn around.
She agreed that we needed a referral. But she also wanted to speed the process along. So she ordered all the regular tests, and quite a few that she thought were likely to be needed, so that when we arrived at the pediatric gastroenterologist we'd be ready to talk about what was, and what wasn't, going on. On that day, she spent over 45 minutes with us. By the time we were leaving, everyone else was gone, including the office staff, and it was well after regular closing hours. But we had made a plan, and for the first time I left a doctor's office with hope that we could find a way to make my child feel better.
What were his symptoms?
Bloating, incredible bloating. Poor Sharky would have a huge round little tummy, and it had to be extremely uncomfortable.
Pain. The type of pain that wakes you up in the middle of the night. We spent lots and lots of nights snuggling a hurting little boy, trying to soothe him with backrubs and lullabies, and hoping that tomorrow would be better.
Vomiting. Though only a little. He had a lot of nausea, but didn't vomit very often.Diarrhea. Terrible- the kind that you get with food poisoning or a really bad flu. The kind that sends you running for the bathroom, praying that you'll make it in time. This was a pervasive symptom, and he had it nearly every day from toddler-hood until we got the hang of this starch-free diet after diagnosis.
and finally, when he was about six Sharky started getting hurt when he should have been completely fine. A broken arm jumping off play equipment, when any other kid would have barely had a bruise. Cracked ribs from jumping on a trampoline. And on, and on....
Skarky's last visit to the ER was just before the diagnosis, and after changing his diet his health has dramatically improved. Now he doesn't ever get hurt, aside from the occasional skinned knee just like every other kid. He doesn't have any pain, or vomiting, or diarrhea, or bloating. Just like every other kid. And, just like every other kid nearing the teenage years, he's trying to figure out the world. And to me, all the perfectly normal problems he has are the most wonderful things in the world.
Well, most of the time, anyway.
**Don't worry, Sharky isn't his given name. :)
Friday, October 15, 2010
Pancreatic Glucoamylase Deficiency
ummm... what?
I still vividly remember the day that I first heard those words. It was the end of an extremely trying time when two children had to have surgery (albeit minor) in the same week while I was by myself half the country away from my family, trying to survive grad school at KUMC while also homeschooling my three boys while I also kept it together, and the whole time my AF husband was deployed to the Middle East.
It sucked.
However...
It was also the end of an extremely trying time in my life. My youngest child's surgery was a total success, and we no longer needed to worry about complications with his eyesight. It was his second surgery, and we were thrilled that it was also the last. My oldest now had answers. He'd always been extremely thin, in about the 5th percentile for weight while in the 90th percentile for height. However, he was starting to falter on the growth charts, and we'd had a succession of broken bones and injuries stemming from falls/incidents that seemed quite minor and illnesses that became more serious than they should have. Generally speaking, he was just off. Of course, he'd also been suffering terrible gastrointestinal distress for his whole life- think what it would be like to have severe lactose intolerance plus fair amount of food poisoning at every single meal for every single day of your life.
It sucked.
And now, we had answers. Because my beloved (yet extremely picky) DH was away for several months, I had some time to try to figure out what we could now eat before he came home.
Youngest kiddo was now fine.
Middle kiddo decided that he wanted to be a doctor.
Oldest kiddo would now be fine. He grew 4 inches and gained 20 pounds in the first two months after we eliminated starch from his diet, and grew a couple additional inches in the following months.
I figured out how to feed my family without resorting to broccoli for breakfast, which we love and DH decidedly does not.
And my husband came home tanned and handsome as always.
I still vividly remember the day that I first heard those words. It was the end of an extremely trying time when two children had to have surgery (albeit minor) in the same week while I was by myself half the country away from my family, trying to survive grad school at KUMC while also homeschooling my three boys while I also kept it together, and the whole time my AF husband was deployed to the Middle East.
It sucked.
However...
It was also the end of an extremely trying time in my life. My youngest child's surgery was a total success, and we no longer needed to worry about complications with his eyesight. It was his second surgery, and we were thrilled that it was also the last. My oldest now had answers. He'd always been extremely thin, in about the 5th percentile for weight while in the 90th percentile for height. However, he was starting to falter on the growth charts, and we'd had a succession of broken bones and injuries stemming from falls/incidents that seemed quite minor and illnesses that became more serious than they should have. Generally speaking, he was just off. Of course, he'd also been suffering terrible gastrointestinal distress for his whole life- think what it would be like to have severe lactose intolerance plus fair amount of food poisoning at every single meal for every single day of your life.
It sucked.
And now, we had answers. Because my beloved (yet extremely picky) DH was away for several months, I had some time to try to figure out what we could now eat before he came home.
Youngest kiddo was now fine.
Middle kiddo decided that he wanted to be a doctor.
Oldest kiddo would now be fine. He grew 4 inches and gained 20 pounds in the first two months after we eliminated starch from his diet, and grew a couple additional inches in the following months.
I figured out how to feed my family without resorting to broccoli for breakfast, which we love and DH decidedly does not.
And my husband came home tanned and handsome as always.
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