13 Sept DC Hosp!: 8 yo with pancreatic insufficiency,
My son has always been in the bottom 10% across the board for height, weight, etc. Now he has fallen off the growth chart in height, barely on for weight and ok for bmi. The last few months he has suffered abdominal pain with eating and diarrhea (up to 10+/day). February we took him to GI specialist who finally agreed (after much debate) to do colonscopy and endoscopy with a pancreatic stimulation test.
Nothing to speak of on the scopes (no celiac, no IBD that they found) but the pancreatic stim test showed 4 out of 5 pancreatic enzymes were abnormally low and he was diagnosed with pancreatic insufficiency with subsequent malabsorption. He now takes Creon 12,000 one capsule with every meal and 1/2 capsule at snacktime. He has low vitamin D and ferritin (likely due to the malabsorption).
So, GI has no idea why he has PI. I urged for CF testing and others to rule out causes of PI. He agreed to sweat test and pulmonary referral. We are going to a CF accredited center in Delaware. Sweat test was 20 on one arm and insufficient quantity on the other. Fecal pancreatic elastase >500. When we saw pulmonary CF dr yesterday, he said he guarantees my son does not have CF based on the sweat test, fecal elastase and his bmi. He agreed that 90% of PI kids have CF but that kids who present at this age are usually pancreatic sufficient, no insufficient as my son is presenting.
So, dr did not want to do full genetic sequencing but he agreed. I asked for the Ambry amplied genetic sequence, but on the the lab slip it said Quest CF full sequence. Can you tell me if this is similar? He also did throat/cough culture, chest xray and ordered pulmonary function tests (even though he said he "sounds" fine).
Also, the reason he didn't want to do the sequence is that he said it is likely something will show up on the mutations and then what do we do if he has copies of mutations (but maybe not 2 copies of same) and he was worried about my reaction to those findings. Well, I would like to know that, if he has any mutations, wouldn't you??
Yes, this is an accredited CF center but quite frankly, I'm a bit skeptical. If we had not completed the pancreatic stim test, based on his fecal elastase alone, we would not have determined that he is in fact pancreatic insufficient. The Creon works wonders, we have gone from daily complaints of stomach pain and lots of diarrhea to few of both. He has gained 2-3 pounds in 3 weeks and 1/2 inch in height.
I've been a lurker on these boards since finding out he is pancreatic insufficient and see that there are lots of smart and kind people here. Please give me your two cents.
I suppose it is possible he has idiopathic PI, PI due to some virus/bacteria, unfound celiac/IBD that damaged pancreas or other genetic conditions. He is getting an ultrasound of the pancreas this am to see if they can visualize the pancreas and any noticable problems.
The CF dr said if he did show CF on the genetic sequencing that he would be a 1.2%er. Well, I said, "that's the story of my life, always the 1%er..."
My son has always been in the bottom 10% across the board for height, weight, etc. Now he has fallen off the growth chart in height, barely on for weight and ok for bmi. The last few months he has suffered abdominal pain with eating and diarrhea (up to 10+/day). February we took him to GI specialist who finally agreed (after much debate) to do colonscopy and endoscopy with a pancreatic stimulation test.
Nothing to speak of on the scopes (no celiac, no IBD that they found) but the pancreatic stim test showed 4 out of 5 pancreatic enzymes were abnormally low and he was diagnosed with pancreatic insufficiency with subsequent malabsorption. He now takes Creon 12,000 one capsule with every meal and 1/2 capsule at snacktime. He has low vitamin D and ferritin (likely due to the malabsorption).
So, GI has no idea why he has PI. I urged for CF testing and others to rule out causes of PI. He agreed to sweat test and pulmonary referral. We are going to a CF accredited center in Delaware. Sweat test was 20 on one arm and insufficient quantity on the other. Fecal pancreatic elastase >500. When we saw pulmonary CF dr yesterday, he said he guarantees my son does not have CF based on the sweat test, fecal elastase and his bmi. He agreed that 90% of PI kids have CF but that kids who present at this age are usually pancreatic sufficient, no insufficient as my son is presenting.
So, dr did not want to do full genetic sequencing but he agreed. I asked for the Ambry amplied genetic sequence, but on the the lab slip it said Quest CF full sequence. Can you tell me if this is similar? He also did throat/cough culture, chest xray and ordered pulmonary function tests (even though he said he "sounds" fine).
Also, the reason he didn't want to do the sequence is that he said it is likely something will show up on the mutations and then what do we do if he has copies of mutations (but maybe not 2 copies of same) and he was worried about my reaction to those findings. Well, I would like to know that, if he has any mutations, wouldn't you??
Yes, this is an accredited CF center but quite frankly, I'm a bit skeptical. If we had not completed the pancreatic stim test, based on his fecal elastase alone, we would not have determined that he is in fact pancreatic insufficient. The Creon works wonders, we have gone from daily complaints of stomach pain and lots of diarrhea to few of both. He has gained 2-3 pounds in 3 weeks and 1/2 inch in height.
I've been a lurker on these boards since finding out he is pancreatic insufficient and see that there are lots of smart and kind people here. Please give me your two cents.
I suppose it is possible he has idiopathic PI, PI due to some virus/bacteria, unfound celiac/IBD that damaged pancreas or other genetic conditions. He is getting an ultrasound of the pancreas this am to see if they can visualize the pancreas and any noticable problems.
The CF dr said if he did show CF on the genetic sequencing that he would be a 1.2%er. Well, I said, "that's the story of my life, always the 1%er..."