Positive sweat test and now maybe not CF?

grannylana · May 30, 2007

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana

grannylana · May 30, 2007

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

Twogreatkids · May 30, 2007

Grannylana,
thanks for the info. We actually were at a different hospital in St. Louis (I won't name it). They were VERY nice and reassuring, but just didn't see the need to pursue further testing, even though he had two high borderline tests. They believed the negative genetics on the 97 panel was enough, but after reading many accounts on this site, as well as his continual asthma and sinus issues, I have my concerns. We live three hours from Kansas City, St. Louis and from Columbia and I have looked into the clinic at the University of MO in Columbia. The issue is, in order to get an appointment we need a referral from our ped. She doesn't see the point because the clinic in St. Louis has "o.k'd" him. So, I am trying to build a case for her to refer us. Part of me wants to simply believe the St. Louis doc. Everything can be explained by allergies and asthma.....except the high borderline results. He has just has his tonsils and adnoids out, and the ENT thinks that will help him a lot.....but I am skeptical because I haven't read how that can reduce sinus infections etc.

Sending you lots of good thoughts and prayers for your granddaughter. I hope they can give you a conclusive answer one way or another.....

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

StevenKeiles · May 31, 2007

hello all, just thought I would clarify a few points.

Most of the testing we perform is the first genetic testing performed and it is covered by most insurance companies without having to do other testing first. We have actually developed a very cost effective method where we first check for the common deltaF508 before moving on to complete sequence testing. This is so we don't have to do expensive testing for all the patients who have 2 deltaF508 mutations (which is almost half the patients)

The other point is that I have seen many patients over the years where we find two mutations and they were negative on the 97 panel. So in my experience (which is well over 10,000 patients) a negative result on any panel doesn't really mean a whole lot.

And the final point about 97% sequence without deletions regarding the full sequence test from Ambry or Quest is correct.

Steve

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Samsmom · Jun 3, 2007

I can totally relate to your situation with your grandaughter. My daughter is 13. Last year she had two positive sweat tests ( 87 and 89) but only found one mutation with the Ambry full panel. Her symptoms have not responded to treatment so now the CF docs. are unsure of the CF diagnosis. Fortunately for us they recognize that there are health issues even if they are not CF, so they are helping us find other doctors to do other work ups to try and rule out other diseases, but still treating her as if she has CF. The process of diagnosis can be very frustrating and long, but hang in there. Keep looking for answers and you will find them. I wish you luck and we are here for you anytime. keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Positive sweat test and now maybe not CF?

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