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.
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