what are the chances of having two rare CF genes?

[auntcob]

My son went through quite a lengthy dx process--started with persistent diarrhea--8-10x a day. This did not begin until he was 13. Every inch of his digestive system was scanned and biopsied. He became too weak to go to school for several months. I finally persuaded his doc to order CF full sequence screening. First 92 came back normal; both sweat tests borderline; fecal elastase normal. When the full panel came back, he showed two mutations, one which was labeled benign. He received a dx of atypical CF in Feb. 2010. Had a second opinion at Hopkins--confirmed dx with NPD.
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<br />In short, I think it is not unusual to have two rare mutations. With an estimated 30,000 people with CF and 1800 mutations identified, many folks probably have mutations that are relatively rare. At any rate, hope you find answers and your daughter can begin to receive treatment. Finding out Adam had CF was tough; but he has improved so much since beginning enzymes and doing airway clearance, etc.
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<br />Best wishes.

 

[Mistyjo]

Auntcob, how long did it take to get the results back from the genetic testing? Thank you for replying. It's been 3 weeks and the wait is driving me crazy! If she has it I really want to get her started on enzymes to help her gain weight.
Thanks again!!

 

[Mistyjo]

Auntcob, how long did it take to get the results back from the genetic testing? Thank you for replying. It's been 3 weeks and the wait is driving me crazy! If she has it I really want to get her started on enzymes to help her gain weight.
Thanks again!!

 

[Mistyjo]

Auntcob, how long did it take to get the results back from the genetic testing? Thank you for replying. It's been 3 weeks and the wait is driving me crazy! If she has it I really want to get her started on enzymes to help her gain weight.
<br />Thanks again!!

 

[Beccamom]

My one daughter's genetics was done by Quest all 3 stages (common mutations, rare mutations (1600) and then deletions and duplications and each stage took about 3 weeks. What took longer was waiting for the pulmonologist to order the next round. For Ambry my 2nd DDs test took 2 1/2 weeks total (common and rate mutations). Then 2 more weeks for deletions and duplications testing. I was able to get the lab at the hospital who drew the blood to call and see if the test was in and then I called the pulmonologist office and asked for someone to call and get the results since they were in. Best wishes. As for two rare it makes sense to my, but I am not a doctor. My girls share no mutations or variants or poylymorphisms in common and yet between them they have 9 of these, but only 1 child with 1 disease causing mutation and yes I am positive they have the same father. So genetics are a mystery.

 

[Beccamom]

My one daughter's genetics was done by Quest all 3 stages (common mutations, rare mutations (1600) and then deletions and duplications and each stage took about 3 weeks. What took longer was waiting for the pulmonologist to order the next round. For Ambry my 2nd DDs test took 2 1/2 weeks total (common and rate mutations). Then 2 more weeks for deletions and duplications testing. I was able to get the lab at the hospital who drew the blood to call and see if the test was in and then I called the pulmonologist office and asked for someone to call and get the results since they were in. Best wishes. As for two rare it makes sense to my, but I am not a doctor. My girls share no mutations or variants or poylymorphisms in common and yet between them they have 9 of these, but only 1 child with 1 disease causing mutation and yes I am positive they have the same father. So genetics are a mystery.

 

[Beccamom]

My one daughter's genetics was done by Quest all 3 stages (common mutations, rare mutations (1600) and then deletions and duplications and each stage took about 3 weeks. What took longer was waiting for the pulmonologist to order the next round. For Ambry my 2nd DDs test took 2 1/2 weeks total (common and rate mutations). Then 2 more weeks for deletions and duplications testing. I was able to get the lab at the hospital who drew the blood to call and see if the test was in and then I called the pulmonologist office and asked for someone to call and get the results since they were in. Best wishes. As for two rare it makes sense to my, but I am not a doctor. My girls share no mutations or variants or poylymorphisms in common and yet between them they have 9 of these, but only 1 child with 1 disease causing mutation and yes I am positive they have the same father. So genetics are a mystery.