Baby is pancreatic insufficient but has negative sweat test: maybe CF or not?

S

sanfloraine

Guest
I am an other of these people with a child (21 months old) currently in limbo<img title="Undecided" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-undecided.gif" alt="Undecided" border="0" />.

My son was diagnosed as moderatly pancreatic insufficient in January, he has had very skinky fatty diarrhea since last July - it started at 13 months old after I stopped breastfeeding him. His fecal elastase in January was 157.
He had 2 sweat tests, one in November and one in January, both done at the same place, results were very negative:11 & 12.
He also had a first genetic testing of 32 mutations: all negative.

He started taking enzymes in January (ZenPep). So back then his fecal elastase was 157, it was measured again in February (he had been taking the enzymes for 2 weeks) and the 2nd measurement was 148... we are a bit suprised that it kept going down <img title="Surprised" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-surprised.gif" alt="Surprised" border="0" />.

We went to a CF clinic where they were very positive: he can't have CF because of his negative sweat tests, his first genetic results and they said that his fecal elastase number was "too high" for a CF patient.
My question is: when a CF patient gets pancreatic insufficient, does the fecal elastase go down slowly or does it go down to 0 almost overnight <img title="Frown" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-frown.gif" alt="Frown" border="0" />??

We insisted that they do the complete genetic sequencing and we are waiting for these results right now. In the meantime he is not being seen anywhere as the CF clinic says that he does not CF and his regular gastroenterologist says he can't treat him because for him CF is still very possible<img title="Yell" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-yell.gif" alt="Yell" border="0" />...

I have also an other question: since taking the enzymes we noticed 2 things:
- he used to be very thirsty (that's was very abnormal, he does not diabetes mellitus), and now he drinks normally so I assume the enzymes are working
- but he still has a lot of mushy stools at times: does it mean the enzymes are not working completely as they should? Shouldn't his stools always be very well formed with the enzymes?
 
S

sanfloraine

Guest
I am an other of these people with a child (21 months old) currently in limbo<img title="Undecided" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-undecided.gif" alt="Undecided" border="0" />.

My son was diagnosed as moderatly pancreatic insufficient in January, he has had very skinky fatty diarrhea since last July - it started at 13 months old after I stopped breastfeeding him. His fecal elastase in January was 157.
He had 2 sweat tests, one in November and one in January, both done at the same place, results were very negative:11 & 12.
He also had a first genetic testing of 32 mutations: all negative.

He started taking enzymes in January (ZenPep). So back then his fecal elastase was 157, it was measured again in February (he had been taking the enzymes for 2 weeks) and the 2nd measurement was 148... we are a bit suprised that it kept going down <img title="Surprised" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-surprised.gif" alt="Surprised" border="0" />.

We went to a CF clinic where they were very positive: he can't have CF because of his negative sweat tests, his first genetic results and they said that his fecal elastase number was "too high" for a CF patient.
My question is: when a CF patient gets pancreatic insufficient, does the fecal elastase go down slowly or does it go down to 0 almost overnight <img title="Frown" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-frown.gif" alt="Frown" border="0" />??

We insisted that they do the complete genetic sequencing and we are waiting for these results right now. In the meantime he is not being seen anywhere as the CF clinic says that he does not CF and his regular gastroenterologist says he can't treat him because for him CF is still very possible<img title="Yell" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-yell.gif" alt="Yell" border="0" />...

I have also an other question: since taking the enzymes we noticed 2 things:
- he used to be very thirsty (that's was very abnormal, he does not diabetes mellitus), and now he drinks normally so I assume the enzymes are working
- but he still has a lot of mushy stools at times: does it mean the enzymes are not working completely as they should? Shouldn't his stools always be very well formed with the enzymes?
 
R

Ratatosk

Administrator
Staff member
DS is had a normal sweat test of 32; however, initial genetic testing of the most common mutations indicated he did have cf. Until he started eating solid foods and was off formula, his stools were still rather mushy until we got the amount figured out. Tended to have a touchy tummy, so we'd gradually increase enzymes by half a capsule over several days.
 
R

Ratatosk

Administrator
Staff member
DS is had a normal sweat test of 32; however, initial genetic testing of the most common mutations indicated he did have cf. Until he started eating solid foods and was off formula, his stools were still rather mushy until we got the amount figured out. Tended to have a touchy tummy, so we'd gradually increase enzymes by half a capsule over several days.
 
M

Mommafirst

Guest
Its good that you are doing the complete genetic workup. Pancreatic insufficiency is connected with other diseases, though CF is the most plausible. Have you examined schwachmann diamond syndrome and celiacs disease? I can see where the CF team has no cause to give a diagnosis, I can't see why the GI wouldn't treatm.
 
M

Mommafirst

Guest
Its good that you are doing the complete genetic workup. Pancreatic insufficiency is connected with other diseases, though CF is the most plausible. Have you examined schwachmann diamond syndrome and celiacs disease? I can see where the CF team has no cause to give a diagnosis, I can't see why the GI wouldn't treatm.
 
J

Justinsmom

New member
Hi,

We went through the same limbo for over a year. Just got diagnosed with CF a few weeks ago. My son's fecal elastase numbers started at 147 in late January, went to 70 about 5-6 weeks later and then to 25 by early July. We did not get prescribed Creon until his numbers went to 25 and his body mass index went to less than 3%. It was just before he turned 7 and was 41 pounds!!!!! He was starving all the time, eating sticks of butter that he would hide in the corner and eat. He then would be sick for hours after.

As far as the stools, for us they can get mushy sometime because of "back up." He is on 2 caps of miralax for constipation and if he misses it, this will happen. Seemed crazy that a child that would go (before Creon between 3 and 10 times a day) would be constipatated, but he was and still is. Maybe constipation is an issue.

We were ruled out for Schwachmann Diamond Syndrome. Do you know if they have done any blood tests for your son like CBC's? Most SD kids have really low white counts (my son tends to get low white counts) particularly neutrophils (ours are never low, thank goodness.)

Good luck and remember if you are not getting answers you are comfortable with, seek a second opinion. We did and it is allowing my son to receive the treatment he needs.

Josette
 
J

Justinsmom

New member
Hi,

We went through the same limbo for over a year. Just got diagnosed with CF a few weeks ago. My son's fecal elastase numbers started at 147 in late January, went to 70 about 5-6 weeks later and then to 25 by early July. We did not get prescribed Creon until his numbers went to 25 and his body mass index went to less than 3%. It was just before he turned 7 and was 41 pounds!!!!! He was starving all the time, eating sticks of butter that he would hide in the corner and eat. He then would be sick for hours after.

As far as the stools, for us they can get mushy sometime because of "back up." He is on 2 caps of miralax for constipation and if he misses it, this will happen. Seemed crazy that a child that would go (before Creon between 3 and 10 times a day) would be constipatated, but he was and still is. Maybe constipation is an issue.

We were ruled out for Schwachmann Diamond Syndrome. Do you know if they have done any blood tests for your son like CBC's? Most SD kids have really low white counts (my son tends to get low white counts) particularly neutrophils (ours are never low, thank goodness.)

Good luck and remember if you are not getting answers you are comfortable with, seek a second opinion. We did and it is allowing my son to receive the treatment he needs.

Josette
 
S

sanfloraine

Guest
Thanks for your answers!

Probably not Schwachmann Diamond syndrome, his CBC blood test was done last Fall and was normal.

Celiac disease: he was tested last Fall and everything was negative. We want to ask that he be tested again and maybe have a biopsy of the villi as I think the blood test is not very reliable. To be discussed further for sure!

Josette: I am sorry your son was recently diagnosed, it must be very for you and him! You do confirm my fears that a medium elastase level can still go down to CF levels. Did he have a positive sweat test as well? How about the genetic mutations? My baby has constipation problems at times, he had this problem before the enzymes and after as well.

We just learned that we'll have to wait even longer for our complete CF genetic testing as the order got lost and the sequencing test was never started... frustrating! We managed to get an appointment with his regular gastroenterologist next week and a long list of questions for him. Waiting, waiting...
 
S

sanfloraine

Guest
Thanks for your answers!

Probably not Schwachmann Diamond syndrome, his CBC blood test was done last Fall and was normal.

Celiac disease: he was tested last Fall and everything was negative. We want to ask that he be tested again and maybe have a biopsy of the villi as I think the blood test is not very reliable. To be discussed further for sure!

Josette: I am sorry your son was recently diagnosed, it must be very for you and him! You do confirm my fears that a medium elastase level can still go down to CF levels. Did he have a positive sweat test as well? How about the genetic mutations? My baby has constipation problems at times, he had this problem before the enzymes and after as well.

We just learned that we'll have to wait even longer for our complete CF genetic testing as the order got lost and the sequencing test was never started... frustrating! We managed to get an appointment with his regular gastroenterologist next week and a long list of questions for him. Waiting, waiting...
 
S

sanfloraine

Guest
Josette - I meant: it must be very hard for you and him!
 
S

sanfloraine

Guest
Josette - I meant: it must be very hard for you and him!
 
J

Justinsmom

New member
Thank you for your thoughts. It is/has been very difficult. He had 2 different pneumonias 2 weeks apart. Finished the high dose of antibiotics for the first, was seen at CF clinic on Wed with clear lungs and great PFT's and by Friday morning had a second pneumonia.

He had 1 sweat test done and he was normal (20). The same day they ran the genetic sequencing (early March). Ours, however, was not done a Ambry and did not include duplications and deleations. It showed 1 mutation and several polymorphisms that should not cause an issue. Again, told he was just a carrier. This again, put things to rest for us until his elastase levels kept dropping and his body began to reject all foods. CF clinic chose to follow him AS IF he had CF anyway in mid August (2011) and put him on creon to see if it helped. It was a drastic change.

Late this September he began to have "asthma spells" and periodic drops in his PFT's. He also had 2 sinus infections around Novemberish. He had a chronic cough from November til early Feb when he had his first pneumonia. One day short of 2 weeks to the day after diagnosis of the first pneumonia, he had a second. This time it was viral. We caught it early and he recovered quickly (1week).

I will continue to keep your son in our prayers.

Josette
 
J

Justinsmom

New member
Thank you for your thoughts. It is/has been very difficult. He had 2 different pneumonias 2 weeks apart. Finished the high dose of antibiotics for the first, was seen at CF clinic on Wed with clear lungs and great PFT's and by Friday morning had a second pneumonia.

He had 1 sweat test done and he was normal (20). The same day they ran the genetic sequencing (early March). Ours, however, was not done a Ambry and did not include duplications and deleations. It showed 1 mutation and several polymorphisms that should not cause an issue. Again, told he was just a carrier. This again, put things to rest for us until his elastase levels kept dropping and his body began to reject all foods. CF clinic chose to follow him AS IF he had CF anyway in mid August (2011) and put him on creon to see if it helped. It was a drastic change.

Late this September he began to have "asthma spells" and periodic drops in his PFT's. He also had 2 sinus infections around Novemberish. He had a chronic cough from November til early Feb when he had his first pneumonia. One day short of 2 weeks to the day after diagnosis of the first pneumonia, he had a second. This time it was viral. We caught it early and he recovered quickly (1week).

I will continue to keep your son in our prayers.

Josette
 
J

Justinsmom

New member
Thank you for your thoughts. It is/has been very difficult. He had 2 different pneumonias 2 weeks apart. Finished the high dose of antibiotics for the first, was seen at CF clinic on Wed with clear lungs and great PFT's and by Friday morning had a second pneumonia.

He had 1 sweat test done and he was normal (20). The same day they ran the genetic sequencing (early March). Ours, however, was not done a Ambry and did not include duplications and deleations. It showed 1 mutation and several polymorphisms that should not cause an issue. Again, told he was just a carrier. This again, put things to rest for us until his elastase levels kept dropping and his body began to reject all foods. CF clinic chose to follow him AS IF he had CF anyway in mid August (2011) and put him on creon to see if it helped. It was a drastic change.

Late this September he began to have "asthma spells" and periodic drops in his PFT's. He also had 2 sinus infections around Novemberish. He had a chronic cough from November til early Feb when he had his first pneumonia. One day short of 2 weeks to the day after diagnosis of the first pneumonia, he had a second. This time it was viral. We caught it early and he recovered quickly (1week).

I will continue to keep your son in our prayers.

Josette
 
J

Justinsmom

New member
Thank you for your thoughts. It is/has been very difficult. He had 2 different pneumonias 2 weeks apart. Finished the high dose of antibiotics for the first, was seen at CF clinic on Wed with clear lungs and great PFT's and by Friday morning had a second pneumonia.

He had 1 sweat test done and he was normal (20). The same day they ran the genetic sequencing (early March). Ours, however, was not done a Ambry and did not include duplications and deleations. It showed 1 mutation and several polymorphisms that should not cause an issue. Again, told he was just a carrier. This again, put things to rest for us until his elastase levels kept dropping and his body began to reject all foods. CF clinic chose to follow him AS IF he had CF anyway in mid August (2011) and put him on creon to see if it helped. It was a drastic change.

Late this September he began to have "asthma spells" and periodic drops in his PFT's. He also had 2 sinus infections around Novemberish. He had a chronic cough from November til early Feb when he had his first pneumonia. One day short of 2 weeks to the day after diagnosis of the first pneumonia, he had a second. This time it was viral. We caught it early and he recovered quickly (1week).

I will continue to keep your son in our prayers.

Josette
 
P

Printer

Active member
I have NEVER had a POSITIVE SWEAT TEST. I have tested POSITIVE on the Nasal and on the rectal biopsy. I have two mutations.

Bill
 
P

Printer

Active member
I have NEVER had a POSITIVE SWEAT TEST. I have tested POSITIVE on the Nasal and on the rectal biopsy. I have two mutations.

Bill
 
S

Swallowtail66

Guest
My children have borderline sweats. They have never had a positive sweat. I have had sweats from normal to borderline. My children went for 6 years without any CF treatment because they didn't have positive sweats. When my oldest was much sicker, they did the complete DNA sequencing (both girls were only CF carriers on the screener) and found that they did have CF.
Don't give up until you are sure your child is receiving the appropriate medical care whether or not you have the complete diagnosis.
 
S

Swallowtail66

Guest
My children have borderline sweats. They have never had a positive sweat. I have had sweats from normal to borderline. My children went for 6 years without any CF treatment because they didn't have positive sweats. When my oldest was much sicker, they did the complete DNA sequencing (both girls were only CF carriers on the screener) and found that they did have CF.
Don't give up until you are sure your child is receiving the appropriate medical care whether or not you have the complete diagnosis.
 
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