Waiting for Answers-- VERY FRUSTRATED

[JoyfulHeart]

Waiting for Answers-- What to ask doc tomorrow?

We've gotten the immune testing. He's got a good memory to vaccinations, but everything else his body just doesn't fight.

Thanks for the lead on primary ciliary dyskinesia, I'm off to google it now!

Oh, the doc JUST called and said he's having a vest sent over-- I thought they ONLY did that for CF?????

 

[JoyfulHeart]

Waiting for Answers-- What to ask doc tomorrow?

We've gotten the immune testing. He's got a good memory to vaccinations, but everything else his body just doesn't fight.

Thanks for the lead on primary ciliary dyskinesia, I'm off to google it now!

Oh, the doc JUST called and said he's having a vest sent over-- I thought they ONLY did that for CF?????

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

I had difficulty getting my children tested for CF and when my 12 year daughter wound up in the hospital in March with asthmatic attack (never diagnosed as having asthma this was the 1st flare-up), I put my foot down and requested testing for both kids. My son was salty all of his life and didn't have specific severe symptoms of CF, but did have some milder symptoms similar to his cousin who has CF. We had the sweat tests done and my son's came back positive then 2nd test came back grey zone so the CF doctors did Genetic Testing, the full 1400 panel. My son has 2 different gene mutations and my daughter luckily isn't even a carrier. No one thought, except me, that my son could have CF. Our primary doctor was cooperative though and had given us the referrals to the CF center. The CF center felt neither kid had CF but possibly asthma. I had to push for the testing, but in the end, the doctors were stunned. My whole point is, don't give up. Have you requested a referral to a CF center... I would hope that your primary would do that for you. I was tested prior to having kids and I was negative. My husband is a carrier... so doing the 35 mutations, as you already know, is a waste of time & money. I obviously had a gene mutation that was not covered by the 35 panel. Good luck to you.

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

 

[BOOANDFAMILY]

Waiting for Answers-- What to ask doc tomorrow?

Oh, negative sweat tests are inconclusive. A person with CF can have a negative sweat test result. Quite confusing. I am hoping you get your answers soon. I have only heard of the vest being used for CF, but maybe there is new protocol for other health issues that they now use the vest?!

 

[JoyfulHeart]

Waiting for Answers-- What to ask doc tomorrow?

Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

 

[JoyfulHeart]

Waiting for Answers-- What to ask doc tomorrow?

Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

 

[JoyfulHeart]

Waiting for Answers-- What to ask doc tomorrow?

Doc called me and we discussed son's medical history. He agreed CF is a possibility, but he didn't "think so". He did agree, for my peace, to get the FULL AMBRY CF testing done. I go today and get the paperwork.!!!

WOOHOO!!!
I feel like I just won a big battle by getting the doc to agree to do this test! LOL

Yeah, the vest threw me too-- I asked him if we were getting the vest because Ben has CF symptoms, but he didn't directly answer me, so I dunno. Who know's what's going on in that doc's brain!!!!

The vest arrives Thursday though. Did ya'll know it costs $16,000!?!?!?!? Holy moly! that's alot!!! I cant imaging he'd insist on puttin a rush on it to get it to us, if he didn't have a reason. I mean, my arm ain't broke--- I can whack my son's back every day for free. LOL But I'm not complaining, not at all! LOL

 

[ktsmom]

Waiting for Answers-- What to ask doc tomorrow?

Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

 

[ktsmom]

Waiting for Answers-- What to ask doc tomorrow?

Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

 

[ktsmom]

Waiting for Answers-- What to ask doc tomorrow?

Holy moly is right, the Hill Rom folks make a lot of money off our insurance compaines, don't they........

I am so glad that you are getting the full mutation testing done. That cost us about $2,600 and of course Ambry is non-network so I think our share was about $650 after insurance.

But won't you be SO relieved to know one way or the other, after all that you have been through. And you still have your sense of humour intact! <img src="i/expressions/face-icon-small-happy.gif" border="0"> Amazing, and best wishes to you!

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)

 

[amber682]

Waiting for Answers-- What to ask doc tomorrow?

Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

 

[amber682]

Waiting for Answers-- What to ask doc tomorrow?

Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

 

[amber682]

Waiting for Answers-- What to ask doc tomorrow?

Good job on getting the doc to do the Ambry test! There is an Ambry:CF Amplified that picks up 99% of mutations. My son's original Ambry test only picked up deltaF508, so they recommended we continue with full sequence tesing and that picked up the other mutation (Q493X) about a month later.

And getting a vest so soon! I've seen some people really have to fight for one on this forum. I can't wait to get one, my son's still too little. Pretty soon I can give my arms a rest.

Best of luck with the test!

 

[debs2girls]

Waiting for Answers-- What to ask doc tomorrow?

Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.

 

[debs2girls]

Waiting for Answers-- What to ask doc tomorrow?

Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.

 

[debs2girls]

Waiting for Answers-- What to ask doc tomorrow?

Congrats on the full panel tests and the vest...my dd has had her vest since April and I got a call today from Hill-Rom, we lost the appeal for insurance to pay for it...so we are onto appeal number 2.
Good luck with the tests...your son sounds alot like my dd and we had a heck of a time getting her dx'ed too.