Need your Input Please

[hockeymomnc]

I am having trouble getting tests done on my kids, my son sounds much like yours with the RSV/bronchitis/croop that turned into" RAD" then Asthma, chronic sinus stuff, etc. he is small as well. I finally got a referral for a genetic counselor to see if I am a CF carrier. if I am, then I will have leverage for testing. I know my husband would have to be a carrier too, but if mine comes back positive, then i am getting my kids tested immediately after. unfortunately here in NC, our special care centers require a referral from peds to do testing(guessing it is like this everywhere). anyway, if I am not a carrier, then my kids can't have CF. i don't know if this helps or if it makes it more complicated.

oh, for those who responded to my posting last week,thanks so much. i called two of the special care centers after your advice but both said they need referrals from peds. however, one of the nurses from Duke called me back and agreed with your opinions as far as why our peds wouldn't schedule any testing. oh well, i will keep you all posted.

 

[heatherrose415]

Thanks you guys!!!

We called our Dr. back and brought up several things and that we would like the full panel done. We found out that he had thought we had two sweat tests done, one being borderline, one being normal. We informed him that only one had been done (and it wanst done at a CF center) and that it was borderline and we havent had another one done.

So we are being referred to UC Davis CF Center, where they said we would be there a full day, get the sweat test done, then meet with a pulmonary specialist and go over everything, and if the sweat test comes back borderline or higher, do some more testing while there.

Thank you ALL!! I will keep you updated!

 

[heatherrose415]

Thanks you guys!!!

We called our Dr. back and brought up several things and that we would like the full panel done. We found out that he had thought we had two sweat tests done, one being borderline, one being normal. We informed him that only one had been done (and it wanst done at a CF center) and that it was borderline and we havent had another one done.

So we are being referred to UC Davis CF Center, where they said we would be there a full day, get the sweat test done, then meet with a pulmonary specialist and go over everything, and if the sweat test comes back borderline or higher, do some more testing while there.

Thank you ALL!! I will keep you updated!

 

[heatherrose415]

Thanks you guys!!!

We called our Dr. back and brought up several things and that we would like the full panel done. We found out that he had thought we had two sweat tests done, one being borderline, one being normal. We informed him that only one had been done (and it wanst done at a CF center) and that it was borderline and we havent had another one done.

So we are being referred to UC Davis CF Center, where they said we would be there a full day, get the sweat test done, then meet with a pulmonary specialist and go over everything, and if the sweat test comes back borderline or higher, do some more testing while there.

Thank you ALL!! I will keep you updated!

 

[NoExcuses]

I know this has already been said, but make sure the "full panel" you are getting is the Ambry Full Panel and it tests for 1500 mutations.

 

[NoExcuses]

I know this has already been said, but make sure the "full panel" you are getting is the Ambry Full Panel and it tests for 1500 mutations.

 

[NoExcuses]

I know this has already been said, but make sure the "full panel" you are getting is the Ambry Full Panel and it tests for 1500 mutations.

 

[heatherrose415]

I will, thanks!

another thing, he said usually if they find mutations past the 32 most common, it isnt Cystic Fibrosis mutations? is that true? how often does it happen?

 

[heatherrose415]

I will, thanks!

another thing, he said usually if they find mutations past the 32 most common, it isnt Cystic Fibrosis mutations? is that true? how often does it happen?

 

[heatherrose415]

I will, thanks!

another thing, he said usually if they find mutations past the 32 most common, it isnt Cystic Fibrosis mutations? is that true? how often does it happen?

 

[tammykrumrey]

I have never heard of that! Of course it is still CF, otherwise they wouldn't be testing for it on a CF genetic mutation test...at least that is what my first thought would be. And just because one mutation may be rare here in the US, it could be a prevalent mutation in another country. I had read once that one of my daughters mutation, 1898+1G>A is not all that common in the US, although it is in the top 32 mutations, it is one of the more common mutations in the Welsh community.

 

[tammykrumrey]

I have never heard of that! Of course it is still CF, otherwise they wouldn't be testing for it on a CF genetic mutation test...at least that is what my first thought would be. And just because one mutation may be rare here in the US, it could be a prevalent mutation in another country. I had read once that one of my daughters mutation, 1898+1G>A is not all that common in the US, although it is in the top 32 mutations, it is one of the more common mutations in the Welsh community.

 

[tammykrumrey]

I have never heard of that! Of course it is still CF, otherwise they wouldn't be testing for it on a CF genetic mutation test...at least that is what my first thought would be. And just because one mutation may be rare here in the US, it could be a prevalent mutation in another country. I had read once that one of my daughters mutation, 1898+1G>A is not all that common in the US, although it is in the top 32 mutations, it is one of the more common mutations in the Welsh community.

 

[Mommafirst]

One of Alyssa's mutations is EXTREMELY rare and most definitely not in the top 32. Ambry told us that Alyssa is only one of SIX people worldwide found to have this mutation. But its still a CF mutation. I think there are mutations of the gene that are not necessarily disease causing, but then you wouldn't get a diagnosis, you'd just be told you have a "novel" mutation that would be watched for disease causing symptoms. However, IMO if Kaiden had a novel mutation, Ambry would probably designate it as disease causing since he is pancreatic insufficient. <br>
<br>
I hope you don't have to wait. You really deserve an answer, Heather. Keep us posted!!!<br>
<br>

 

[Mommafirst]

One of Alyssa's mutations is EXTREMELY rare and most definitely not in the top 32. Ambry told us that Alyssa is only one of SIX people worldwide found to have this mutation. But its still a CF mutation. I think there are mutations of the gene that are not necessarily disease causing, but then you wouldn't get a diagnosis, you'd just be told you have a "novel" mutation that would be watched for disease causing symptoms. However, IMO if Kaiden had a novel mutation, Ambry would probably designate it as disease causing since he is pancreatic insufficient. <br>
<br>
I hope you don't have to wait. You really deserve an answer, Heather. Keep us posted!!!<br>
<br>

 

[Mommafirst]

One of Alyssa's mutations is EXTREMELY rare and most definitely not in the top 32. Ambry told us that Alyssa is only one of SIX people worldwide found to have this mutation. But its still a CF mutation. I think there are mutations of the gene that are not necessarily disease causing, but then you wouldn't get a diagnosis, you'd just be told you have a "novel" mutation that would be watched for disease causing symptoms. However, IMO if Kaiden had a novel mutation, Ambry would probably designate it as disease causing since he is pancreatic insufficient. <br>
<br>
I hope you don't have to wait. You really deserve an answer, Heather. Keep us posted!!!<br>
<br>

 

[Jem]

I commend you for being so proactive and pursuing cf testing.

I tested 37-39 on my sweat tests and my second gene wasn't found until they expanded the gene panel to 87 mutations. It is wonderful that Ambry now has a test that includes 1500 mutations.

Early diagnosis is so important. The earlier you know and begin treatment the better for your child. And if the expanded Ambry gene test is negative, you will have peace of mind. Let us know how things go. Keeping you and your family in prayer.

 

[Jem]

I commend you for being so proactive and pursuing cf testing.

I tested 37-39 on my sweat tests and my second gene wasn't found until they expanded the gene panel to 87 mutations. It is wonderful that Ambry now has a test that includes 1500 mutations.

Early diagnosis is so important. The earlier you know and begin treatment the better for your child. And if the expanded Ambry gene test is negative, you will have peace of mind. Let us know how things go. Keeping you and your family in prayer.

 

[Jem]

I commend you for being so proactive and pursuing cf testing.

I tested 37-39 on my sweat tests and my second gene wasn't found until they expanded the gene panel to 87 mutations. It is wonderful that Ambry now has a test that includes 1500 mutations.

Early diagnosis is so important. The earlier you know and begin treatment the better for your child. And if the expanded Ambry gene test is negative, you will have peace of mind. Let us know how things go. Keeping you and your family in prayer.

 

[Samsmom]

Keep pushing to find the answers you need. My daughter has a very rare mutation (G576A) that was identified with the Ambry full panel, but no others were identified. She had a positive sweat test, but showed pancreatic sufficiency, however she was hospitalized with an impacted bowel. That goes to show you that tests sometimes fail to yield all the answers. I would not want to wait and see for 6 months or a year. If there is a way to find out then I say do it. If it is cf then early diagnosis is the best thing and the sooner care is started the better the quality and quantity of life are for cfers. Hope this helps!! Keeping you in my thoughts.