Where do I go from here?

D

domsmom

Guest
I don't know what to do. Here we are approx. 8 weeks later and still no answers.
Dominic has had 2 pos. sweat tests, a clear throat culture, and a completely normal sinus CT. His genetic testing is now all in (genzyme) and it says it could neither confirm or rule out a dx of CF. Now the Dr.s office wants us to see a genetist (sp.?) who cannot give us an appt. until Feb. 2008.

I don't know where to turn I have so many ? and cannot get any of the Dr.s to answer any of them. Their response is lets wait for the whole picture. This is my family I think I deserve some anwers or at least the common curtesy of maybe the Dr. speaking with me instead of his nurse who is very new and continually tells me she is new and really doesn't know much about it.

Is the genzyme a sub-standard test? Where do I go from here? Is there anything that can cause pos. sweat test results? Could this all really be just asthma with chronic sinus infections?
 
D

domsmom

Guest
I don't know what to do. Here we are approx. 8 weeks later and still no answers.
Dominic has had 2 pos. sweat tests, a clear throat culture, and a completely normal sinus CT. His genetic testing is now all in (genzyme) and it says it could neither confirm or rule out a dx of CF. Now the Dr.s office wants us to see a genetist (sp.?) who cannot give us an appt. until Feb. 2008.

I don't know where to turn I have so many ? and cannot get any of the Dr.s to answer any of them. Their response is lets wait for the whole picture. This is my family I think I deserve some anwers or at least the common curtesy of maybe the Dr. speaking with me instead of his nurse who is very new and continually tells me she is new and really doesn't know much about it.

Is the genzyme a sub-standard test? Where do I go from here? Is there anything that can cause pos. sweat test results? Could this all really be just asthma with chronic sinus infections?
 
D

domsmom

Guest
I don't know what to do. Here we are approx. 8 weeks later and still no answers.
Dominic has had 2 pos. sweat tests, a clear throat culture, and a completely normal sinus CT. His genetic testing is now all in (genzyme) and it says it could neither confirm or rule out a dx of CF. Now the Dr.s office wants us to see a genetist (sp.?) who cannot give us an appt. until Feb. 2008.

I don't know where to turn I have so many ? and cannot get any of the Dr.s to answer any of them. Their response is lets wait for the whole picture. This is my family I think I deserve some anwers or at least the common curtesy of maybe the Dr. speaking with me instead of his nurse who is very new and continually tells me she is new and really doesn't know much about it.

Is the genzyme a sub-standard test? Where do I go from here? Is there anything that can cause pos. sweat test results? Could this all really be just asthma with chronic sinus infections?
 
D

domsmom

Guest
I don't know what to do. Here we are approx. 8 weeks later and still no answers.
Dominic has had 2 pos. sweat tests, a clear throat culture, and a completely normal sinus CT. His genetic testing is now all in (genzyme) and it says it could neither confirm or rule out a dx of CF. Now the Dr.s office wants us to see a genetist (sp.?) who cannot give us an appt. until Feb. 2008.

I don't know where to turn I have so many ? and cannot get any of the Dr.s to answer any of them. Their response is lets wait for the whole picture. This is my family I think I deserve some anwers or at least the common curtesy of maybe the Dr. speaking with me instead of his nurse who is very new and continually tells me she is new and really doesn't know much about it.

Is the genzyme a sub-standard test? Where do I go from here? Is there anything that can cause pos. sweat test results? Could this all really be just asthma with chronic sinus infections?
 
D

domsmom

Guest
I don't know what to do. Here we are approx. 8 weeks later and still no answers.
Dominic has had 2 pos. sweat tests, a clear throat culture, and a completely normal sinus CT. His genetic testing is now all in (genzyme) and it says it could neither confirm or rule out a dx of CF. Now the Dr.s office wants us to see a genetist (sp.?) who cannot give us an appt. until Feb. 2008.

I don't know where to turn I have so many ? and cannot get any of the Dr.s to answer any of them. Their response is lets wait for the whole picture. This is my family I think I deserve some anwers or at least the common curtesy of maybe the Dr. speaking with me instead of his nurse who is very new and continually tells me she is new and really doesn't know much about it.

Is the genzyme a sub-standard test? Where do I go from here? Is there anything that can cause pos. sweat test results? Could this all really be just asthma with chronic sinus infections?
 
S

sdelorenzo

Guest
I have heard a number of times that two positive sweat tests equals a cf diagnosis. About half of the time my two cf kids do not culture anything. They also have clear sinuses. Is your child being seen at a cf clinic? You can go to this address to find out: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/">http://www.cff.org/LivingWithC...accreditedCareCenters/</a>
I would expect my child's pulomonogist at the cf clinic to treat my child with two positive sweat tests as if they have cf until it can be proven otherwise. Is your child taking enzymes and chest physical therapy? Is Genzyme finished looking for all of the genes. Did they find one, zero, two genes? I would start with getting on the phone with them and asking for one other their specialists to explain it to you. Why would you need to see a geneticist? The cf dr should be able to get all of the genetic testing done without seeing a geneticist. They should also be able to use the genetic dept at the children's hospital to help them understand the genetic testing if they are having trouble. They shouldn't be having trouble if they are experienced enough). Sounds like you need to find a new dr for your child. If they won't answer every question you have promptly you will only have a lot more problems with them in the future. I have had to switch drs as well. It makes all of the difference in the world to have one that is easy to work with, cares for the well-being of your child and helps you care for the needs of your child. You are on the right track in demanding prompt answers. No one cares for your child like you do, so don't stop fighting for him. I am to the point now in dealing with drs that if I don't get answers or concerns addressed for my kids in a timely manner, I will call the nurse and explain that I need answers and I am on the way to the drs office and I will wait for the dr until he/she has time that day to speak with me that day. Fortunately, I only had to do that once. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 6 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
I have heard a number of times that two positive sweat tests equals a cf diagnosis. About half of the time my two cf kids do not culture anything. They also have clear sinuses. Is your child being seen at a cf clinic? You can go to this address to find out: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/">http://www.cff.org/LivingWithC...accreditedCareCenters/</a>
I would expect my child's pulomonogist at the cf clinic to treat my child with two positive sweat tests as if they have cf until it can be proven otherwise. Is your child taking enzymes and chest physical therapy? Is Genzyme finished looking for all of the genes. Did they find one, zero, two genes? I would start with getting on the phone with them and asking for one other their specialists to explain it to you. Why would you need to see a geneticist? The cf dr should be able to get all of the genetic testing done without seeing a geneticist. They should also be able to use the genetic dept at the children's hospital to help them understand the genetic testing if they are having trouble. They shouldn't be having trouble if they are experienced enough). Sounds like you need to find a new dr for your child. If they won't answer every question you have promptly you will only have a lot more problems with them in the future. I have had to switch drs as well. It makes all of the difference in the world to have one that is easy to work with, cares for the well-being of your child and helps you care for the needs of your child. You are on the right track in demanding prompt answers. No one cares for your child like you do, so don't stop fighting for him. I am to the point now in dealing with drs that if I don't get answers or concerns addressed for my kids in a timely manner, I will call the nurse and explain that I need answers and I am on the way to the drs office and I will wait for the dr until he/she has time that day to speak with me that day. Fortunately, I only had to do that once. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 6 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
I have heard a number of times that two positive sweat tests equals a cf diagnosis. About half of the time my two cf kids do not culture anything. They also have clear sinuses. Is your child being seen at a cf clinic? You can go to this address to find out: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/">http://www.cff.org/LivingWithC...accreditedCareCenters/</a>
I would expect my child's pulomonogist at the cf clinic to treat my child with two positive sweat tests as if they have cf until it can be proven otherwise. Is your child taking enzymes and chest physical therapy? Is Genzyme finished looking for all of the genes. Did they find one, zero, two genes? I would start with getting on the phone with them and asking for one other their specialists to explain it to you. Why would you need to see a geneticist? The cf dr should be able to get all of the genetic testing done without seeing a geneticist. They should also be able to use the genetic dept at the children's hospital to help them understand the genetic testing if they are having trouble. They shouldn't be having trouble if they are experienced enough). Sounds like you need to find a new dr for your child. If they won't answer every question you have promptly you will only have a lot more problems with them in the future. I have had to switch drs as well. It makes all of the difference in the world to have one that is easy to work with, cares for the well-being of your child and helps you care for the needs of your child. You are on the right track in demanding prompt answers. No one cares for your child like you do, so don't stop fighting for him. I am to the point now in dealing with drs that if I don't get answers or concerns addressed for my kids in a timely manner, I will call the nurse and explain that I need answers and I am on the way to the drs office and I will wait for the dr until he/she has time that day to speak with me that day. Fortunately, I only had to do that once. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 6 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
I have heard a number of times that two positive sweat tests equals a cf diagnosis. About half of the time my two cf kids do not culture anything. They also have clear sinuses. Is your child being seen at a cf clinic? You can go to this address to find out: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/">http://www.cff.org/LivingWithC...accreditedCareCenters/</a>
I would expect my child's pulomonogist at the cf clinic to treat my child with two positive sweat tests as if they have cf until it can be proven otherwise. Is your child taking enzymes and chest physical therapy? Is Genzyme finished looking for all of the genes. Did they find one, zero, two genes? I would start with getting on the phone with them and asking for one other their specialists to explain it to you. Why would you need to see a geneticist? The cf dr should be able to get all of the genetic testing done without seeing a geneticist. They should also be able to use the genetic dept at the children's hospital to help them understand the genetic testing if they are having trouble. They shouldn't be having trouble if they are experienced enough). Sounds like you need to find a new dr for your child. If they won't answer every question you have promptly you will only have a lot more problems with them in the future. I have had to switch drs as well. It makes all of the difference in the world to have one that is easy to work with, cares for the well-being of your child and helps you care for the needs of your child. You are on the right track in demanding prompt answers. No one cares for your child like you do, so don't stop fighting for him. I am to the point now in dealing with drs that if I don't get answers or concerns addressed for my kids in a timely manner, I will call the nurse and explain that I need answers and I am on the way to the drs office and I will wait for the dr until he/she has time that day to speak with me that day. Fortunately, I only had to do that once. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 6 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
I have heard a number of times that two positive sweat tests equals a cf diagnosis. About half of the time my two cf kids do not culture anything. They also have clear sinuses. Is your child being seen at a cf clinic? You can go to this address to find out: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/">http://www.cff.org/LivingWithC...accreditedCareCenters/</a>
I would expect my child's pulomonogist at the cf clinic to treat my child with two positive sweat tests as if they have cf until it can be proven otherwise. Is your child taking enzymes and chest physical therapy? Is Genzyme finished looking for all of the genes. Did they find one, zero, two genes? I would start with getting on the phone with them and asking for one other their specialists to explain it to you. Why would you need to see a geneticist? The cf dr should be able to get all of the genetic testing done without seeing a geneticist. They should also be able to use the genetic dept at the children's hospital to help them understand the genetic testing if they are having trouble. They shouldn't be having trouble if they are experienced enough). Sounds like you need to find a new dr for your child. If they won't answer every question you have promptly you will only have a lot more problems with them in the future. I have had to switch drs as well. It makes all of the difference in the world to have one that is easy to work with, cares for the well-being of your child and helps you care for the needs of your child. You are on the right track in demanding prompt answers. No one cares for your child like you do, so don't stop fighting for him. I am to the point now in dealing with drs that if I don't get answers or concerns addressed for my kids in a timely manner, I will call the nurse and explain that I need answers and I am on the way to the drs office and I will wait for the dr until he/she has time that day to speak with me that day. Fortunately, I only had to do that once. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 6 and Jack, 3 both with cf
 
G

grassisgreener

New member
What were the sweat test numbers? Did Genzyme find one mutation? If you don't know the answers to these questions you should call the doctor and ask.

I believe 2 positive sweat tests should be considered CF and the patient should be treated accordingly. My Cfer was dx with 2 positive sweat tests, began treatment right away, a few months later we did genetic testing which found only one mutation (DF508) and since then we did more thorough testing to identify the second mutation (a rare one). Genetic tests are fairly new so in the "old days" they weren't even used for a diagnosis.

I believe that Genzyme does only screen for select mutations (28 is the number in my mind but it could be more/less).

Waiting until 2008 is not good bc if he does have CF he needs to be treated now. When we wanted to find the second mutation, I went to a geneticist with information on the lab I wanted her to use (Quest) and she had no problem with that. I think you need to figure out what you want to do then start telling the doctors...if they don't like that then you can find a new doctor!

Hope you can get things figured out for him soon! Best Wishes!
 
G

grassisgreener

New member
What were the sweat test numbers? Did Genzyme find one mutation? If you don't know the answers to these questions you should call the doctor and ask.

I believe 2 positive sweat tests should be considered CF and the patient should be treated accordingly. My Cfer was dx with 2 positive sweat tests, began treatment right away, a few months later we did genetic testing which found only one mutation (DF508) and since then we did more thorough testing to identify the second mutation (a rare one). Genetic tests are fairly new so in the "old days" they weren't even used for a diagnosis.

I believe that Genzyme does only screen for select mutations (28 is the number in my mind but it could be more/less).

Waiting until 2008 is not good bc if he does have CF he needs to be treated now. When we wanted to find the second mutation, I went to a geneticist with information on the lab I wanted her to use (Quest) and she had no problem with that. I think you need to figure out what you want to do then start telling the doctors...if they don't like that then you can find a new doctor!

Hope you can get things figured out for him soon! Best Wishes!
 
G

grassisgreener

New member
What were the sweat test numbers? Did Genzyme find one mutation? If you don't know the answers to these questions you should call the doctor and ask.

I believe 2 positive sweat tests should be considered CF and the patient should be treated accordingly. My Cfer was dx with 2 positive sweat tests, began treatment right away, a few months later we did genetic testing which found only one mutation (DF508) and since then we did more thorough testing to identify the second mutation (a rare one). Genetic tests are fairly new so in the "old days" they weren't even used for a diagnosis.

I believe that Genzyme does only screen for select mutations (28 is the number in my mind but it could be more/less).

Waiting until 2008 is not good bc if he does have CF he needs to be treated now. When we wanted to find the second mutation, I went to a geneticist with information on the lab I wanted her to use (Quest) and she had no problem with that. I think you need to figure out what you want to do then start telling the doctors...if they don't like that then you can find a new doctor!

Hope you can get things figured out for him soon! Best Wishes!
 
G

grassisgreener

New member
What were the sweat test numbers? Did Genzyme find one mutation? If you don't know the answers to these questions you should call the doctor and ask.

I believe 2 positive sweat tests should be considered CF and the patient should be treated accordingly. My Cfer was dx with 2 positive sweat tests, began treatment right away, a few months later we did genetic testing which found only one mutation (DF508) and since then we did more thorough testing to identify the second mutation (a rare one). Genetic tests are fairly new so in the "old days" they weren't even used for a diagnosis.

I believe that Genzyme does only screen for select mutations (28 is the number in my mind but it could be more/less).

Waiting until 2008 is not good bc if he does have CF he needs to be treated now. When we wanted to find the second mutation, I went to a geneticist with information on the lab I wanted her to use (Quest) and she had no problem with that. I think you need to figure out what you want to do then start telling the doctors...if they don't like that then you can find a new doctor!

Hope you can get things figured out for him soon! Best Wishes!
 
G

grassisgreener

New member
What were the sweat test numbers? Did Genzyme find one mutation? If you don't know the answers to these questions you should call the doctor and ask.

I believe 2 positive sweat tests should be considered CF and the patient should be treated accordingly. My Cfer was dx with 2 positive sweat tests, began treatment right away, a few months later we did genetic testing which found only one mutation (DF508) and since then we did more thorough testing to identify the second mutation (a rare one). Genetic tests are fairly new so in the "old days" they weren't even used for a diagnosis.

I believe that Genzyme does only screen for select mutations (28 is the number in my mind but it could be more/less).

Waiting until 2008 is not good bc if he does have CF he needs to be treated now. When we wanted to find the second mutation, I went to a geneticist with information on the lab I wanted her to use (Quest) and she had no problem with that. I think you need to figure out what you want to do then start telling the doctors...if they don't like that then you can find a new doctor!

Hope you can get things figured out for him soon! Best Wishes!
 
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