Nervously Waiting for Results

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Nervous1

New member
Hi Alyssa,

I'm glad to see you are thinking in the same direction as I am. Yes, I am trying to get a referral to the leading CF center where I am. The first issue I am coming up against is that there is no adult CF center, everyone is handled through a children's unit. My GP is cooperating in that he is willing to give the referral if I can find a doctor there who's title is specific enough to CF, because he can't give me a referral to a pediatrician ... because I'm not a child.

I also posted a question to the Ambry guy on these boards asking for statistics on people with my background for whom they have found 2 rare mutations. Obviously when I explained that Ambry believes I need a full genetic test, the response was "sure they have a huge interest in taking that stand since it increases their business." That is of course true, and quite difficult to argue against. I'm hoping Ambry will be willing to provide the info.

Anyway, thanks again for your support. It makes such a huge difference to be able to discuss this with someone!!!!
 
N

Nervous1

New member
Hi Alyssa,

I'm glad to see you are thinking in the same direction as I am. Yes, I am trying to get a referral to the leading CF center where I am. The first issue I am coming up against is that there is no adult CF center, everyone is handled through a children's unit. My GP is cooperating in that he is willing to give the referral if I can find a doctor there who's title is specific enough to CF, because he can't give me a referral to a pediatrician ... because I'm not a child.

I also posted a question to the Ambry guy on these boards asking for statistics on people with my background for whom they have found 2 rare mutations. Obviously when I explained that Ambry believes I need a full genetic test, the response was "sure they have a huge interest in taking that stand since it increases their business." That is of course true, and quite difficult to argue against. I'm hoping Ambry will be willing to provide the info.

Anyway, thanks again for your support. It makes such a huge difference to be able to discuss this with someone!!!!
 
N

Nervous1

New member
Hi Alyssa,

I'm glad to see you are thinking in the same direction as I am. Yes, I am trying to get a referral to the leading CF center where I am. The first issue I am coming up against is that there is no adult CF center, everyone is handled through a children's unit. My GP is cooperating in that he is willing to give the referral if I can find a doctor there who's title is specific enough to CF, because he can't give me a referral to a pediatrician ... because I'm not a child.

I also posted a question to the Ambry guy on these boards asking for statistics on people with my background for whom they have found 2 rare mutations. Obviously when I explained that Ambry believes I need a full genetic test, the response was "sure they have a huge interest in taking that stand since it increases their business." That is of course true, and quite difficult to argue against. I'm hoping Ambry will be willing to provide the info.

Anyway, thanks again for your support. It makes such a huge difference to be able to discuss this with someone!!!!
 
A

Alyssa

New member
Yeah, I see what they are saying about Ambry's best interests, but I really don't think they are in it just to get one more full panel test out of you :) Of course business are in the business of providing their service, but in the case of Ambry and testing a person who might have CF, I suspect the reason they say full testing is because <b>it is common sense</b>... there are more than 1500 CF genes identified to date. The only way you can "rule out" having two of them is to look for them! You cannot look for 32 of the 1500 and say "well, we looked for CF genes, but didn't find any" BS ! The Ambry guy has also explained on here that there is no "32 most common CF genes to look for" either, if I understood his statement correctly when I read it in some long ago post, he was basically saying the test for 32 is more random, not specific to exactly the same 32 genes (hope I interpreted that correctly) if not, I know I'm correct in my logic about 32 vs 1500 -- you cannot find what you are not looking for and missing out on 1468 possible matches is a lot to miss !

As far as the 12 Jewish genes being full proof??? I don't know.... can you say for sure that there has never ever been any other genetics involved in your entire family history? Can the geneticist tell you that everyone in your family line is 100% Ashkenazi Jew and there are absolutely no other gene possibilities coming down the line for you???? It's a nice cheap place to start, I'll give them that - if they were going to find CF genes, it stands to reason that it was most likely going to be the Jewish genes, but I don't think its 100% .... like I said... I just keep coming back to the basics.... there are over 1500 mutations !!! They only looked for 12!

Best of luck -- try not to get your forehead to bloody ... beating it against the brick walls they give you!

Where are you at? I thought I remembered Australia, but now that I looked at your posts again, I don't see it... you just say you are not in the US. Maybe there are others on the board who can tell you of an adult clinic or doctor near you. If you are interested, try posting with that topic line in the adult section - it gets a whole lot more traffic than the newly diagnosed category does.
 
A

Alyssa

New member
Yeah, I see what they are saying about Ambry's best interests, but I really don't think they are in it just to get one more full panel test out of you :) Of course business are in the business of providing their service, but in the case of Ambry and testing a person who might have CF, I suspect the reason they say full testing is because <b>it is common sense</b>... there are more than 1500 CF genes identified to date. The only way you can "rule out" having two of them is to look for them! You cannot look for 32 of the 1500 and say "well, we looked for CF genes, but didn't find any" BS ! The Ambry guy has also explained on here that there is no "32 most common CF genes to look for" either, if I understood his statement correctly when I read it in some long ago post, he was basically saying the test for 32 is more random, not specific to exactly the same 32 genes (hope I interpreted that correctly) if not, I know I'm correct in my logic about 32 vs 1500 -- you cannot find what you are not looking for and missing out on 1468 possible matches is a lot to miss !

As far as the 12 Jewish genes being full proof??? I don't know.... can you say for sure that there has never ever been any other genetics involved in your entire family history? Can the geneticist tell you that everyone in your family line is 100% Ashkenazi Jew and there are absolutely no other gene possibilities coming down the line for you???? It's a nice cheap place to start, I'll give them that - if they were going to find CF genes, it stands to reason that it was most likely going to be the Jewish genes, but I don't think its 100% .... like I said... I just keep coming back to the basics.... there are over 1500 mutations !!! They only looked for 12!

Best of luck -- try not to get your forehead to bloody ... beating it against the brick walls they give you!

Where are you at? I thought I remembered Australia, but now that I looked at your posts again, I don't see it... you just say you are not in the US. Maybe there are others on the board who can tell you of an adult clinic or doctor near you. If you are interested, try posting with that topic line in the adult section - it gets a whole lot more traffic than the newly diagnosed category does.
 
A

Alyssa

New member
Yeah, I see what they are saying about Ambry's best interests, but I really don't think they are in it just to get one more full panel test out of you :) Of course business are in the business of providing their service, but in the case of Ambry and testing a person who might have CF, I suspect the reason they say full testing is because <b>it is common sense</b>... there are more than 1500 CF genes identified to date. The only way you can "rule out" having two of them is to look for them! You cannot look for 32 of the 1500 and say "well, we looked for CF genes, but didn't find any" BS ! The Ambry guy has also explained on here that there is no "32 most common CF genes to look for" either, if I understood his statement correctly when I read it in some long ago post, he was basically saying the test for 32 is more random, not specific to exactly the same 32 genes (hope I interpreted that correctly) if not, I know I'm correct in my logic about 32 vs 1500 -- you cannot find what you are not looking for and missing out on 1468 possible matches is a lot to miss !

As far as the 12 Jewish genes being full proof??? I don't know.... can you say for sure that there has never ever been any other genetics involved in your entire family history? Can the geneticist tell you that everyone in your family line is 100% Ashkenazi Jew and there are absolutely no other gene possibilities coming down the line for you???? It's a nice cheap place to start, I'll give them that - if they were going to find CF genes, it stands to reason that it was most likely going to be the Jewish genes, but I don't think its 100% .... like I said... I just keep coming back to the basics.... there are over 1500 mutations !!! They only looked for 12!

Best of luck -- try not to get your forehead to bloody ... beating it against the brick walls they give you!

Where are you at? I thought I remembered Australia, but now that I looked at your posts again, I don't see it... you just say you are not in the US. Maybe there are others on the board who can tell you of an adult clinic or doctor near you. If you are interested, try posting with that topic line in the adult section - it gets a whole lot more traffic than the newly diagnosed category does.
 
A

Alyssa

New member
Yeah, I see what they are saying about Ambry's best interests, but I really don't think they are in it just to get one more full panel test out of you :) Of course business are in the business of providing their service, but in the case of Ambry and testing a person who might have CF, I suspect the reason they say full testing is because <b>it is common sense</b>... there are more than 1500 CF genes identified to date. The only way you can "rule out" having two of them is to look for them! You cannot look for 32 of the 1500 and say "well, we looked for CF genes, but didn't find any" BS ! The Ambry guy has also explained on here that there is no "32 most common CF genes to look for" either, if I understood his statement correctly when I read it in some long ago post, he was basically saying the test for 32 is more random, not specific to exactly the same 32 genes (hope I interpreted that correctly) if not, I know I'm correct in my logic about 32 vs 1500 -- you cannot find what you are not looking for and missing out on 1468 possible matches is a lot to miss !

As far as the 12 Jewish genes being full proof??? I don't know.... can you say for sure that there has never ever been any other genetics involved in your entire family history? Can the geneticist tell you that everyone in your family line is 100% Ashkenazi Jew and there are absolutely no other gene possibilities coming down the line for you???? It's a nice cheap place to start, I'll give them that - if they were going to find CF genes, it stands to reason that it was most likely going to be the Jewish genes, but I don't think its 100% .... like I said... I just keep coming back to the basics.... there are over 1500 mutations !!! They only looked for 12!

Best of luck -- try not to get your forehead to bloody ... beating it against the brick walls they give you!

Where are you at? I thought I remembered Australia, but now that I looked at your posts again, I don't see it... you just say you are not in the US. Maybe there are others on the board who can tell you of an adult clinic or doctor near you. If you are interested, try posting with that topic line in the adult section - it gets a whole lot more traffic than the newly diagnosed category does.
 
A

Alyssa

New member
Yeah, I see what they are saying about Ambry's best interests, but I really don't think they are in it just to get one more full panel test out of you :) Of course business are in the business of providing their service, but in the case of Ambry and testing a person who might have CF, I suspect the reason they say full testing is because <b>it is common sense</b>... there are more than 1500 CF genes identified to date. The only way you can "rule out" having two of them is to look for them! You cannot look for 32 of the 1500 and say "well, we looked for CF genes, but didn't find any" BS ! The Ambry guy has also explained on here that there is no "32 most common CF genes to look for" either, if I understood his statement correctly when I read it in some long ago post, he was basically saying the test for 32 is more random, not specific to exactly the same 32 genes (hope I interpreted that correctly) if not, I know I'm correct in my logic about 32 vs 1500 -- you cannot find what you are not looking for and missing out on 1468 possible matches is a lot to miss !

As far as the 12 Jewish genes being full proof??? I don't know.... can you say for sure that there has never ever been any other genetics involved in your entire family history? Can the geneticist tell you that everyone in your family line is 100% Ashkenazi Jew and there are absolutely no other gene possibilities coming down the line for you???? It's a nice cheap place to start, I'll give them that - if they were going to find CF genes, it stands to reason that it was most likely going to be the Jewish genes, but I don't think its 100% .... like I said... I just keep coming back to the basics.... there are over 1500 mutations !!! They only looked for 12!

Best of luck -- try not to get your forehead to bloody ... beating it against the brick walls they give you!

Where are you at? I thought I remembered Australia, but now that I looked at your posts again, I don't see it... you just say you are not in the US. Maybe there are others on the board who can tell you of an adult clinic or doctor near you. If you are interested, try posting with that topic line in the adult section - it gets a whole lot more traffic than the newly diagnosed category does.
 
N

Nervous1

New member
Hi Melissa,

Yes, Steve answered my question very clearly. From his answer I understand that the chances that even a full Ambry test would find mutations in me is very, very close to nothing. He said he had one or two patients ever who had such a situation. As such, there is no way I am going to get my health provider to pay for such a test.

On the bright side, I did get them to give me a referral to the leading CF center where I live. I have an appointment there in a couple of weeks. I told them on the phone that I already did the genetic testing and it's negative, but they very emphatically said that doesn't rule anything out and that they want to see me. That's certainly encouraging.

In the meantime I was sent to some very well known professor in my area. After 45 minutes he said I have a variant of fibromyalgia. After researching it a bit, I discovered that I have NONE of the symptoms of this disorder and it seems to me that it was just his way of saying that the whole thing is in my head.

Anyway, I'm hoping that the visit to the CF center will resolve finally whether this is CF or whether it should be treated similarly if it's not.

I really appreciate the support from all of you on this forum!!!!
 
N

Nervous1

New member
Hi Melissa,

Yes, Steve answered my question very clearly. From his answer I understand that the chances that even a full Ambry test would find mutations in me is very, very close to nothing. He said he had one or two patients ever who had such a situation. As such, there is no way I am going to get my health provider to pay for such a test.

On the bright side, I did get them to give me a referral to the leading CF center where I live. I have an appointment there in a couple of weeks. I told them on the phone that I already did the genetic testing and it's negative, but they very emphatically said that doesn't rule anything out and that they want to see me. That's certainly encouraging.

In the meantime I was sent to some very well known professor in my area. After 45 minutes he said I have a variant of fibromyalgia. After researching it a bit, I discovered that I have NONE of the symptoms of this disorder and it seems to me that it was just his way of saying that the whole thing is in my head.

Anyway, I'm hoping that the visit to the CF center will resolve finally whether this is CF or whether it should be treated similarly if it's not.

I really appreciate the support from all of you on this forum!!!!
 
N

Nervous1

New member
Hi Melissa,

Yes, Steve answered my question very clearly. From his answer I understand that the chances that even a full Ambry test would find mutations in me is very, very close to nothing. He said he had one or two patients ever who had such a situation. As such, there is no way I am going to get my health provider to pay for such a test.

On the bright side, I did get them to give me a referral to the leading CF center where I live. I have an appointment there in a couple of weeks. I told them on the phone that I already did the genetic testing and it's negative, but they very emphatically said that doesn't rule anything out and that they want to see me. That's certainly encouraging.

In the meantime I was sent to some very well known professor in my area. After 45 minutes he said I have a variant of fibromyalgia. After researching it a bit, I discovered that I have NONE of the symptoms of this disorder and it seems to me that it was just his way of saying that the whole thing is in my head.

Anyway, I'm hoping that the visit to the CF center will resolve finally whether this is CF or whether it should be treated similarly if it's not.

I really appreciate the support from all of you on this forum!!!!
 
N

Nervous1

New member
Hi Melissa,

Yes, Steve answered my question very clearly. From his answer I understand that the chances that even a full Ambry test would find mutations in me is very, very close to nothing. He said he had one or two patients ever who had such a situation. As such, there is no way I am going to get my health provider to pay for such a test.

On the bright side, I did get them to give me a referral to the leading CF center where I live. I have an appointment there in a couple of weeks. I told them on the phone that I already did the genetic testing and it's negative, but they very emphatically said that doesn't rule anything out and that they want to see me. That's certainly encouraging.

In the meantime I was sent to some very well known professor in my area. After 45 minutes he said I have a variant of fibromyalgia. After researching it a bit, I discovered that I have NONE of the symptoms of this disorder and it seems to me that it was just his way of saying that the whole thing is in my head.

Anyway, I'm hoping that the visit to the CF center will resolve finally whether this is CF or whether it should be treated similarly if it's not.

I really appreciate the support from all of you on this forum!!!!
 
N

Nervous1

New member
Hi Melissa,

Yes, Steve answered my question very clearly. From his answer I understand that the chances that even a full Ambry test would find mutations in me is very, very close to nothing. He said he had one or two patients ever who had such a situation. As such, there is no way I am going to get my health provider to pay for such a test.

On the bright side, I did get them to give me a referral to the leading CF center where I live. I have an appointment there in a couple of weeks. I told them on the phone that I already did the genetic testing and it's negative, but they very emphatically said that doesn't rule anything out and that they want to see me. That's certainly encouraging.

In the meantime I was sent to some very well known professor in my area. After 45 minutes he said I have a variant of fibromyalgia. After researching it a bit, I discovered that I have NONE of the symptoms of this disorder and it seems to me that it was just his way of saying that the whole thing is in my head.

Anyway, I'm hoping that the visit to the CF center will resolve finally whether this is CF or whether it should be treated similarly if it's not.

I really appreciate the support from all of you on this forum!!!!
 
A

Alyssa

New member
That's very good news that you are going to a CF center. Many people who have trouble getting genetic results, are still treated "as CF" because the symptoms are so similar.

That's also encouraging to hear their stance on the testing negative for the 12 genes already... good attitude! Sounds like they will help you.

Keep us posted!
 
A

Alyssa

New member
That's very good news that you are going to a CF center. Many people who have trouble getting genetic results, are still treated "as CF" because the symptoms are so similar.

That's also encouraging to hear their stance on the testing negative for the 12 genes already... good attitude! Sounds like they will help you.

Keep us posted!
 
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