R117h 7T, intermediate sweat test result

[Mommafirst]

My daughter had borderline sweats 45 and 53. It took a fully Ambry test to locate both CF mutations. If you KNOW your son has at least one mutation and his sweat tests are not normal, then you really should push until you have unturned every avenue and can truly put CF to rest -- its too serious of a disease that really benefits from preventative care, to just take a wait and see approach. Best of luck!!

 

[sarasmama]

I don't usually post on here but wanted to let you know a little about our situation.

We found out in March of this year that my 11year old and 6 year old have CF. They have the mutations DF508/R117H. Yes they say they are milder but it depends.

My daughter is on the severe side. Severely under weight/bronchectasis/been admitted three times in the past 6 months. Has shown signs of CF since she was born. Her sweat test was 76/78
My son is in the 95% for height and weight. The only issue he is experiencing is sinus problems and a bout of pancreatitis. He never showed signs of CF. Sweat test was 41/42

Please push for the rest of the testing. Sweat tests can be borderline and your child still have CF.

 

[sarasmama]

I don't usually post on here but wanted to let you know a little about our situation.

We found out in March of this year that my 11year old and 6 year old have CF. They have the mutations DF508/R117H. Yes they say they are milder but it depends.

My daughter is on the severe side. Severely under weight/bronchectasis/been admitted three times in the past 6 months. Has shown signs of CF since she was born. Her sweat test was 76/78
My son is in the 95% for height and weight. The only issue he is experiencing is sinus problems and a bout of pancreatitis. He never showed signs of CF. Sweat test was 41/42

Please push for the rest of the testing. Sweat tests can be borderline and your child still have CF.

 

[sarasmama]

I don't usually post on here but wanted to let you know a little about our situation.
<br />
<br />We found out in March of this year that my 11year old and 6 year old have CF. They have the mutations DF508/R117H. Yes they say they are milder but it depends.
<br />
<br />My daughter is on the severe side. Severely under weight/bronchectasis/been admitted three times in the past 6 months. Has shown signs of CF since she was born. Her sweat test was 76/78
<br />My son is in the 95% for height and weight. The only issue he is experiencing is sinus problems and a bout of pancreatitis. He never showed signs of CF. Sweat test was 41/42
<br />
<br />Please push for the rest of the testing. Sweat tests can be borderline and your child still have CF.
<br />
<br />

 

[Printer]

Copper:

I hope that your son is being seen at an approved CF Center, believe me it is extremely important.

Definitly have a FULL CF SEQUENCING done. There are almost 1900 mutations and the full screen is the only way to be sure. You didn't mention any other children but remember both you and your wife are carriers and other children COULD be effected.

I don't like the words "MILD" or "ATYPICAL" when talking about CF, there is a large number of mutations that can be late onset. I believe that only non CF doctors would say a mild case.

Early and continuous treatment and prevention is critical.

Good luck,
Bill

 

[Printer]

Copper:

I hope that your son is being seen at an approved CF Center, believe me it is extremely important.

Definitly have a FULL CF SEQUENCING done. There are almost 1900 mutations and the full screen is the only way to be sure. You didn't mention any other children but remember both you and your wife are carriers and other children COULD be effected.

I don't like the words "MILD" or "ATYPICAL" when talking about CF, there is a large number of mutations that can be late onset. I believe that only non CF doctors would say a mild case.

Early and continuous treatment and prevention is critical.

Good luck,
Bill

 

[Printer]

Copper:
<br />
<br />I hope that your son is being seen at an approved CF Center, believe me it is extremely important.
<br />
<br />Definitly have a FULL CF SEQUENCING done. There are almost 1900 mutations and the full screen is the only way to be sure. You didn't mention any other children but remember both you and your wife are carriers and other children COULD be effected.
<br />
<br />I don't like the words "MILD" or "ATYPICAL" when talking about CF, there is a large number of mutations that can be late onset. I believe that only non CF doctors would say a mild case.
<br />
<br />Early and continuous treatment and prevention is critical.
<br />
<br />Good luck,
<br />Bill

 

[Printer]

Copper:

There is a thread here under FORUM/ADULT, CFers over 40. I would suggest that you and your wife take a few minutes and read all of the postings there.

Bill

 

[Printer]

Copper:

There is a thread here under FORUM/ADULT, CFers over 40. I would suggest that you and your wife take a few minutes and read all of the postings there.

Bill

 

[Printer]

Copper:
<br />
<br />There is a thread here under FORUM/ADULT, CFers over 40. I would suggest that you and your wife take a few minutes and read all of the postings there.
<br />
<br />Bill

 

[Swallowtail66]

My children never have had positive sweats.  Please, don't rest until you have the full genetic workup. 

 

[Swallowtail66]

My children never have had positive sweats. Please, don't rest until you have the full genetic workup.

 

[Swallowtail66]

<BR>My children never have had positive sweats. Please, don't rest until you have the full genetic workup.

 

[katethekid]

My sweat tests were all in the intermediate range until I had two done at age 15 and both were positive. I still have not had the new genetic testing done, but when I was a toddler I was ruled out for the 5 they knew about back then. Sometimes the test is just inconclusive. Please try to get the full genetic test done so you can be as proactive as possible. Keeping you in my thoughts.

 

[katethekid]

My sweat tests were all in the intermediate range until I had two done at age 15 and both were positive. I still have not had the new genetic testing done, but when I was a toddler I was ruled out for the 5 they knew about back then. Sometimes the test is just inconclusive. Please try to get the full genetic test done so you can be as proactive as possible. Keeping you in my thoughts.