about to go crazy!!

H

heatherrose415

New member
Ive been on here several times before.

My son has had malabsorption problems since he was born. he is off the scales for weight, and now almost off for height. He has had tests since he was 2 months to figure it all out and we finally found out he is Pancreatic Insufficient in Amylase, and everything else is on the low end of normal. He now takes Pancrease 10 MT with every meal.

His sweat test # was 41 ( i previously posted it was 44, i was wrong) so i pushed for genetic testing. They only tested for the first 32 most common mutations, it was negative. I called back and pushed for the full Ambry Panel. My Dr. tried fighting me, but told me he would fax his info to his Pediatrician, and to have his Ped fax a referral to the UC Davis CF Center. So ive been working on all of that getting completed. We also called the CF center and they said when they get the referral that they would schedual on all day appt for him to get a 2nd sweat test (his 1st one was at a reg hospital) and to meet with a pulmonologist and based on how the result came back, do more testing.

Well my sons Ped called yesterday and said she faxed the referral and the CF Dr denied the referral saying it was "negative"

So now what do i do???

He is pancreatic insufficient and has one borderline sweat test. I dont know if its a gut instinct or not, but I feel he needs to be further evaluated, but all these Dr.s feel its not CF since no mutation was found in the 32 tested.

He has always had chronic congestion (not a bad cough though) but it hasnt raised any problems.

If any of you could help me out it would be appreciated, especially if you can give me links to info that i could bring to these dr's so they dont think im ignorant.

Thanks!
Heather
 
H

heatherrose415

New member
Ive been on here several times before.

My son has had malabsorption problems since he was born. he is off the scales for weight, and now almost off for height. He has had tests since he was 2 months to figure it all out and we finally found out he is Pancreatic Insufficient in Amylase, and everything else is on the low end of normal. He now takes Pancrease 10 MT with every meal.

His sweat test # was 41 ( i previously posted it was 44, i was wrong) so i pushed for genetic testing. They only tested for the first 32 most common mutations, it was negative. I called back and pushed for the full Ambry Panel. My Dr. tried fighting me, but told me he would fax his info to his Pediatrician, and to have his Ped fax a referral to the UC Davis CF Center. So ive been working on all of that getting completed. We also called the CF center and they said when they get the referral that they would schedual on all day appt for him to get a 2nd sweat test (his 1st one was at a reg hospital) and to meet with a pulmonologist and based on how the result came back, do more testing.

Well my sons Ped called yesterday and said she faxed the referral and the CF Dr denied the referral saying it was "negative"

So now what do i do???

He is pancreatic insufficient and has one borderline sweat test. I dont know if its a gut instinct or not, but I feel he needs to be further evaluated, but all these Dr.s feel its not CF since no mutation was found in the 32 tested.

He has always had chronic congestion (not a bad cough though) but it hasnt raised any problems.

If any of you could help me out it would be appreciated, especially if you can give me links to info that i could bring to these dr's so they dont think im ignorant.

Thanks!
Heather
 
H

heatherrose415

New member
Ive been on here several times before.

My son has had malabsorption problems since he was born. he is off the scales for weight, and now almost off for height. He has had tests since he was 2 months to figure it all out and we finally found out he is Pancreatic Insufficient in Amylase, and everything else is on the low end of normal. He now takes Pancrease 10 MT with every meal.

His sweat test # was 41 ( i previously posted it was 44, i was wrong) so i pushed for genetic testing. They only tested for the first 32 most common mutations, it was negative. I called back and pushed for the full Ambry Panel. My Dr. tried fighting me, but told me he would fax his info to his Pediatrician, and to have his Ped fax a referral to the UC Davis CF Center. So ive been working on all of that getting completed. We also called the CF center and they said when they get the referral that they would schedual on all day appt for him to get a 2nd sweat test (his 1st one was at a reg hospital) and to meet with a pulmonologist and based on how the result came back, do more testing.

Well my sons Ped called yesterday and said she faxed the referral and the CF Dr denied the referral saying it was "negative"

So now what do i do???

He is pancreatic insufficient and has one borderline sweat test. I dont know if its a gut instinct or not, but I feel he needs to be further evaluated, but all these Dr.s feel its not CF since no mutation was found in the 32 tested.

He has always had chronic congestion (not a bad cough though) but it hasnt raised any problems.

If any of you could help me out it would be appreciated, especially if you can give me links to info that i could bring to these dr's so they dont think im ignorant.

Thanks!
Heather
 
O

okok

New member
So if i am understanding correctly, your son had a second sweat test that was preformed by an accredited CF facility and the sweat test was negative?

i would go back to your doctor ask for the specific concentration of chloride that was found in your child's sweat. I would also ask to know the ratio of chloride/sodium in your child's sweat.

If your child's chloride/sodium ratio is less than 1 AND if the sweat chloride value is clearly negative (not above 30) then i would wait 6 months to see if your child grows out of the amylase def before pestering your doctor about this further. If your child has CF and CF is causing the pancreatic amylase def then it will get worse not better.

Keep a close eye on your child's growth to be sure that he continues to grow well (or that his growth improves due to enzyme supplementation). Ask your doctor if you can come in every couple months to plot your child's growth on the curve.

I'm so sorry you are having such a difficult time! I would try to relax because hopefully the doctor at the CF clinic reviewed your child's case and found that your child's clinical picture was not consistant with CF. There are several lab tests which can help to differentiate between a clinical case of CF and other causes of similar symptoms. Ask your doctor to sit down with you and discuss these tests so you can be sure that your doctor has thought about your child's case very carefully.

The good thing is that your child is getting enzyme supplmentation so if he has CF he is being treated for the most important aspect, nutrition! As i said before, if CF is the cause of your child's digestive problems it will most likely get worse not better, so if your child hasn't grown out of the amylase def by the normal time ask for more testing or get a new doctor.

good luck
 
O

okok

New member
So if i am understanding correctly, your son had a second sweat test that was preformed by an accredited CF facility and the sweat test was negative?

i would go back to your doctor ask for the specific concentration of chloride that was found in your child's sweat. I would also ask to know the ratio of chloride/sodium in your child's sweat.

If your child's chloride/sodium ratio is less than 1 AND if the sweat chloride value is clearly negative (not above 30) then i would wait 6 months to see if your child grows out of the amylase def before pestering your doctor about this further. If your child has CF and CF is causing the pancreatic amylase def then it will get worse not better.

Keep a close eye on your child's growth to be sure that he continues to grow well (or that his growth improves due to enzyme supplementation). Ask your doctor if you can come in every couple months to plot your child's growth on the curve.

I'm so sorry you are having such a difficult time! I would try to relax because hopefully the doctor at the CF clinic reviewed your child's case and found that your child's clinical picture was not consistant with CF. There are several lab tests which can help to differentiate between a clinical case of CF and other causes of similar symptoms. Ask your doctor to sit down with you and discuss these tests so you can be sure that your doctor has thought about your child's case very carefully.

The good thing is that your child is getting enzyme supplmentation so if he has CF he is being treated for the most important aspect, nutrition! As i said before, if CF is the cause of your child's digestive problems it will most likely get worse not better, so if your child hasn't grown out of the amylase def by the normal time ask for more testing or get a new doctor.

good luck
 
O

okok

New member
So if i am understanding correctly, your son had a second sweat test that was preformed by an accredited CF facility and the sweat test was negative?

i would go back to your doctor ask for the specific concentration of chloride that was found in your child's sweat. I would also ask to know the ratio of chloride/sodium in your child's sweat.

If your child's chloride/sodium ratio is less than 1 AND if the sweat chloride value is clearly negative (not above 30) then i would wait 6 months to see if your child grows out of the amylase def before pestering your doctor about this further. If your child has CF and CF is causing the pancreatic amylase def then it will get worse not better.

Keep a close eye on your child's growth to be sure that he continues to grow well (or that his growth improves due to enzyme supplementation). Ask your doctor if you can come in every couple months to plot your child's growth on the curve.

I'm so sorry you are having such a difficult time! I would try to relax because hopefully the doctor at the CF clinic reviewed your child's case and found that your child's clinical picture was not consistant with CF. There are several lab tests which can help to differentiate between a clinical case of CF and other causes of similar symptoms. Ask your doctor to sit down with you and discuss these tests so you can be sure that your doctor has thought about your child's case very carefully.

The good thing is that your child is getting enzyme supplmentation so if he has CF he is being treated for the most important aspect, nutrition! As i said before, if CF is the cause of your child's digestive problems it will most likely get worse not better, so if your child hasn't grown out of the amylase def by the normal time ask for more testing or get a new doctor.

good luck
 
H

heatherrose415

New member
Thank you!

He has NOT had a second sweat test done. My dr. was referring us to an accredited CF center for a second sweat test because his first one was 41, which is borderline. But the Dr. denied it. I should atleast push for the 2nd sweat test at an accredited center right?

Thanks,
Heather
 
H

heatherrose415

New member
Thank you!

He has NOT had a second sweat test done. My dr. was referring us to an accredited CF center for a second sweat test because his first one was 41, which is borderline. But the Dr. denied it. I should atleast push for the 2nd sweat test at an accredited center right?

Thanks,
Heather
 
H

heatherrose415

New member
Thank you!

He has NOT had a second sweat test done. My dr. was referring us to an accredited CF center for a second sweat test because his first one was 41, which is borderline. But the Dr. denied it. I should atleast push for the 2nd sweat test at an accredited center right?

Thanks,
Heather
 
O

okok

New member
Yes, absolutely! I was under the impression that they automatically preformed a second sweat test when the first one came back bordeline. Jeez!
 
O

okok

New member
Yes, absolutely! I was under the impression that they automatically preformed a second sweat test when the first one came back bordeline. Jeez!
 
O

okok

New member
Yes, absolutely! I was under the impression that they automatically preformed a second sweat test when the first one came back bordeline. Jeez!
 
E

Edna0312

New member
Hi Heather,

I am sorry about your difficulties. I TOTALLY understand them though.

You know the last time I contacted you my 4yr old was having a repeat endo with pancreatic function test and a colonoscopy.

Well, she had the first one at 2 1/2 yrs and was low end of normal on some, normal on lipase and insufficient on some. (Remember, the doc said to wait and see if she outgrew it.) The results just recently came back on the repeat panc. enzyme levels. She had gotten worse!! Completely insufficient on all!!!

Just thought I would pass that on. Don't give up!!

You know, I would skip the pulmonologist and push for the Ambry complete genetic test! That's what I'm doing now. And, I am having more success with my pediatrician on that than with my GI doc.

I'll let you know...should find out this week if they are going to do the Ambry test on my son.

Hope this helps,

Edna
 
E

Edna0312

New member
Hi Heather,

I am sorry about your difficulties. I TOTALLY understand them though.

You know the last time I contacted you my 4yr old was having a repeat endo with pancreatic function test and a colonoscopy.

Well, she had the first one at 2 1/2 yrs and was low end of normal on some, normal on lipase and insufficient on some. (Remember, the doc said to wait and see if she outgrew it.) The results just recently came back on the repeat panc. enzyme levels. She had gotten worse!! Completely insufficient on all!!!

Just thought I would pass that on. Don't give up!!

You know, I would skip the pulmonologist and push for the Ambry complete genetic test! That's what I'm doing now. And, I am having more success with my pediatrician on that than with my GI doc.

I'll let you know...should find out this week if they are going to do the Ambry test on my son.

Hope this helps,

Edna
 
E

Edna0312

New member
Hi Heather,

I am sorry about your difficulties. I TOTALLY understand them though.

You know the last time I contacted you my 4yr old was having a repeat endo with pancreatic function test and a colonoscopy.

Well, she had the first one at 2 1/2 yrs and was low end of normal on some, normal on lipase and insufficient on some. (Remember, the doc said to wait and see if she outgrew it.) The results just recently came back on the repeat panc. enzyme levels. She had gotten worse!! Completely insufficient on all!!!

Just thought I would pass that on. Don't give up!!

You know, I would skip the pulmonologist and push for the Ambry complete genetic test! That's what I'm doing now. And, I am having more success with my pediatrician on that than with my GI doc.

I'll let you know...should find out this week if they are going to do the Ambry test on my son.

Hope this helps,

Edna
 
S

sdelorenzo

Guest
My nephew had been seeing a cf doctor from the age of two and was not diagnosed until the age of four. It took my daughter's diagnosis to get them to test my nephew. The doctor said he just didn't "look" like he had cf. Looking back he was very thin, chronic cough, and chronic constipation. You would think they would put two and two together. Your son needs more testing. Don't take no for an answer. Just politely "tell" them you want another sweat test and ambry. If you still can't get anywhere, you might need to head to another cf center, a pulmonologist not associated with the clinic and/of find a pediatrician that will get these tests accomplished. They sound valid.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf
 
S

sdelorenzo

Guest
My nephew had been seeing a cf doctor from the age of two and was not diagnosed until the age of four. It took my daughter's diagnosis to get them to test my nephew. The doctor said he just didn't "look" like he had cf. Looking back he was very thin, chronic cough, and chronic constipation. You would think they would put two and two together. Your son needs more testing. Don't take no for an answer. Just politely "tell" them you want another sweat test and ambry. If you still can't get anywhere, you might need to head to another cf center, a pulmonologist not associated with the clinic and/of find a pediatrician that will get these tests accomplished. They sound valid.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf
 
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