(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?

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. :)