Pancreatic Sufficiency and Symptomatic Carrier

[mom2lillian]

yes, as mentioned you can loose your PS status, I was even told to 'watch' for signs of loosing it etc as I very well might at some point.

If your husband has a mutation that wasnt picked up on initial basic screening and SIL had the same test it of course would not have picked hers up either, if she already has a 508 then I would say she DEFINATELY needs tested at least for the other gene hubby has, she woudl technically have a 50% chance of having that gene.

You can get a single gene test through amrby for around 300. For now though a fecal fat test would be a bit quicker.

 

[mom2lillian]

yes, as mentioned you can loose your PS status, I was even told to 'watch' for signs of loosing it etc as I very well might at some point.

If your husband has a mutation that wasnt picked up on initial basic screening and SIL had the same test it of course would not have picked hers up either, if she already has a 508 then I would say she DEFINATELY needs tested at least for the other gene hubby has, she woudl technically have a 50% chance of having that gene.

You can get a single gene test through amrby for around 300. For now though a fecal fat test would be a bit quicker.

 

[mom2lillian]

yes, as mentioned you can loose your PS status, I was even told to 'watch' for signs of loosing it etc as I very well might at some point.

If your husband has a mutation that wasnt picked up on initial basic screening and SIL had the same test it of course would not have picked hers up either, if she already has a 508 then I would say she DEFINATELY needs tested at least for the other gene hubby has, she woudl technically have a 50% chance of having that gene.

You can get a single gene test through amrby for around 300. For now though a fecal fat test would be a bit quicker.

 

[mom2lillian]

yes, as mentioned you can loose your PS status, I was even told to 'watch' for signs of loosing it etc as I very well might at some point.

If your husband has a mutation that wasnt picked up on initial basic screening and SIL had the same test it of course would not have picked hers up either, if she already has a 508 then I would say she DEFINATELY needs tested at least for the other gene hubby has, she woudl technically have a 50% chance of having that gene.

You can get a single gene test through amrby for around 300. For now though a fecal fat test would be a bit quicker.

 

[mom2lillian]

yes, as mentioned you can loose your PS status, I was even told to 'watch' for signs of loosing it etc as I very well might at some point.

If your husband has a mutation that wasnt picked up on initial basic screening and SIL had the same test it of course would not have picked hers up either, if she already has a 508 then I would say she DEFINATELY needs tested at least for the other gene hubby has, she woudl technically have a 50% chance of having that gene.

You can get a single gene test through amrby for around 300. For now though a fecal fat test would be a bit quicker.

 

[blondelawyer]

I am starting the ball rolling today to see if our insurance will cover the Ambry test to see if they can determine Gess's second mutation. I figured that would be a good starting point, because if we find out his second mutuation then it would be an easier test for her. Also, I worried that if they still can't find his second mutation (when we KNOW he has CF), then they wouldn't find one in her either.

The test results on celiac disease and stomach cancer should come back next week. I will keep people who are interested posted.

 

[blondelawyer]

I am starting the ball rolling today to see if our insurance will cover the Ambry test to see if they can determine Gess's second mutation. I figured that would be a good starting point, because if we find out his second mutuation then it would be an easier test for her. Also, I worried that if they still can't find his second mutation (when we KNOW he has CF), then they wouldn't find one in her either.

The test results on celiac disease and stomach cancer should come back next week. I will keep people who are interested posted.

 

[blondelawyer]

I am starting the ball rolling today to see if our insurance will cover the Ambry test to see if they can determine Gess's second mutation. I figured that would be a good starting point, because if we find out his second mutuation then it would be an easier test for her. Also, I worried that if they still can't find his second mutation (when we KNOW he has CF), then they wouldn't find one in her either.

The test results on celiac disease and stomach cancer should come back next week. I will keep people who are interested posted.

 

[blondelawyer]

I am starting the ball rolling today to see if our insurance will cover the Ambry test to see if they can determine Gess's second mutation. I figured that would be a good starting point, because if we find out his second mutuation then it would be an easier test for her. Also, I worried that if they still can't find his second mutation (when we KNOW he has CF), then they wouldn't find one in her either.

The test results on celiac disease and stomach cancer should come back next week. I will keep people who are interested posted.

 

[blondelawyer]

I am starting the ball rolling today to see if our insurance will cover the Ambry test to see if they can determine Gess's second mutation. I figured that would be a good starting point, because if we find out his second mutuation then it would be an easier test for her. Also, I worried that if they still can't find his second mutation (when we KNOW he has CF), then they wouldn't find one in her either.

The test results on celiac disease and stomach cancer should come back next week. I will keep people who are interested posted.

 

[LisaV]

Do let us know what you find out.

My late husband had bronchiectasis from childhood and his pancreas pooped out in his 50s. He also was prone to intestinal blockages.

His brother has been diagnosed with "idiopathic" pancreatitus and takes the same enzymes as a CFer does and gets frequent mucus bockages.

Neither of them "flunked" the sweat test (tho' I don't know how my late husband passed, he was the saltiest tasting man I ever licked). Neither had genetic testing done.

Their 3 sisters don't seem to have the same problems tho' their oldest has pulmonary blebs.

There definately is CF in their family. Two of their sister's kids have a CF diagnosis and in one the progression has been rapid enough that she was placed on the Tx list at 21.

If the 2 brothers are just carriers, it is hard to call them "asymptomatic".

 

[LisaV]

Do let us know what you find out.

My late husband had bronchiectasis from childhood and his pancreas pooped out in his 50s. He also was prone to intestinal blockages.

His brother has been diagnosed with "idiopathic" pancreatitus and takes the same enzymes as a CFer does and gets frequent mucus bockages.

Neither of them "flunked" the sweat test (tho' I don't know how my late husband passed, he was the saltiest tasting man I ever licked). Neither had genetic testing done.

Their 3 sisters don't seem to have the same problems tho' their oldest has pulmonary blebs.

There definately is CF in their family. Two of their sister's kids have a CF diagnosis and in one the progression has been rapid enough that she was placed on the Tx list at 21.

If the 2 brothers are just carriers, it is hard to call them "asymptomatic".

 

[LisaV]

Do let us know what you find out.

My late husband had bronchiectasis from childhood and his pancreas pooped out in his 50s. He also was prone to intestinal blockages.

His brother has been diagnosed with "idiopathic" pancreatitus and takes the same enzymes as a CFer does and gets frequent mucus bockages.

Neither of them "flunked" the sweat test (tho' I don't know how my late husband passed, he was the saltiest tasting man I ever licked). Neither had genetic testing done.

Their 3 sisters don't seem to have the same problems tho' their oldest has pulmonary blebs.

There definately is CF in their family. Two of their sister's kids have a CF diagnosis and in one the progression has been rapid enough that she was placed on the Tx list at 21.

If the 2 brothers are just carriers, it is hard to call them "asymptomatic".

 

[LisaV]

Do let us know what you find out.

My late husband had bronchiectasis from childhood and his pancreas pooped out in his 50s. He also was prone to intestinal blockages.

His brother has been diagnosed with "idiopathic" pancreatitus and takes the same enzymes as a CFer does and gets frequent mucus bockages.

Neither of them "flunked" the sweat test (tho' I don't know how my late husband passed, he was the saltiest tasting man I ever licked). Neither had genetic testing done.

Their 3 sisters don't seem to have the same problems tho' their oldest has pulmonary blebs.

There definately is CF in their family. Two of their sister's kids have a CF diagnosis and in one the progression has been rapid enough that she was placed on the Tx list at 21.

If the 2 brothers are just carriers, it is hard to call them "asymptomatic".

 

[LisaV]

Do let us know what you find out.

My late husband had bronchiectasis from childhood and his pancreas pooped out in his 50s. He also was prone to intestinal blockages.

His brother has been diagnosed with "idiopathic" pancreatitus and takes the same enzymes as a CFer does and gets frequent mucus bockages.

Neither of them "flunked" the sweat test (tho' I don't know how my late husband passed, he was the saltiest tasting man I ever licked). Neither had genetic testing done.

Their 3 sisters don't seem to have the same problems tho' their oldest has pulmonary blebs.

There definately is CF in their family. Two of their sister's kids have a CF diagnosis and in one the progression has been rapid enough that she was placed on the Tx list at 21.

If the 2 brothers are just carriers, it is hard to call them "asymptomatic".