WAITING ON GENETIC TEST RESULTS

[hotrodsmom]

My son , Patrick is 7 years old. he is very small for his age. His hieght is 43.54 inches, and his weight is 37.40 pounds.
Patrick has a history of reccurent upper and lower respiratory infections, chronic cough, bronchiectasis, asthma, otitis media and sinusitis.
Patrick had two sweat tests done in June. First sweat test was 33 on one arm, and 49 on the other arm. The second sweat test was 33 on one arm, and 36 on the other.
My son had blood drawn for a genetic test last week. The Dr said, they would first test for the 32 most common CF mutations, and then for the remaining CF mutations. The Dr says, that if Patrick has CF he would expect the more uncommon mutations. Patrick is scheduled for sinus surgery July 29. His sinuses are inflamed w/ thick mucus, and they are conserned he may have polyps.
Patrick does his therapy vest 3 times a day w/ the albuteral,and does his Pulmicort twice a day. We are trying to get Patrick the Pulmazyme, but we are fighting w/ the insurance right now.
Patrick was born w/ a heart defect, but it has been repaired. when he was 2 years old.
Open to any advice.

 

[hotrodsmom]

My son , Patrick is 7 years old. he is very small for his age. His hieght is 43.54 inches, and his weight is 37.40 pounds.
Patrick has a history of reccurent upper and lower respiratory infections, chronic cough, bronchiectasis, asthma, otitis media and sinusitis.
Patrick had two sweat tests done in June. First sweat test was 33 on one arm, and 49 on the other arm. The second sweat test was 33 on one arm, and 36 on the other.
My son had blood drawn for a genetic test last week. The Dr said, they would first test for the 32 most common CF mutations, and then for the remaining CF mutations. The Dr says, that if Patrick has CF he would expect the more uncommon mutations. Patrick is scheduled for sinus surgery July 29. His sinuses are inflamed w/ thick mucus, and they are conserned he may have polyps.
Patrick does his therapy vest 3 times a day w/ the albuteral,and does his Pulmicort twice a day. We are trying to get Patrick the Pulmazyme, but we are fighting w/ the insurance right now.
Patrick was born w/ a heart defect, but it has been repaired. when he was 2 years old.
Open to any advice.

 

[hotrodsmom]

My son , Patrick is 7 years old. he is very small for his age. His hieght is 43.54 inches, and his weight is 37.40 pounds.
Patrick has a history of reccurent upper and lower respiratory infections, chronic cough, bronchiectasis, asthma, otitis media and sinusitis.
Patrick had two sweat tests done in June. First sweat test was 33 on one arm, and 49 on the other arm. The second sweat test was 33 on one arm, and 36 on the other.
My son had blood drawn for a genetic test last week. The Dr said, they would first test for the 32 most common CF mutations, and then for the remaining CF mutations. The Dr says, that if Patrick has CF he would expect the more uncommon mutations. Patrick is scheduled for sinus surgery July 29. His sinuses are inflamed w/ thick mucus, and they are conserned he may have polyps.
Patrick does his therapy vest 3 times a day w/ the albuteral,and does his Pulmicort twice a day. We are trying to get Patrick the Pulmazyme, but we are fighting w/ the insurance right now.
Patrick was born w/ a heart defect, but it has been repaired. when he was 2 years old.
Open to any advice.

 

[hotrodsmom]

My son , Patrick is 7 years old. he is very small for his age. His hieght is 43.54 inches, and his weight is 37.40 pounds.
Patrick has a history of reccurent upper and lower respiratory infections, chronic cough, bronchiectasis, asthma, otitis media and sinusitis.
Patrick had two sweat tests done in June. First sweat test was 33 on one arm, and 49 on the other arm. The second sweat test was 33 on one arm, and 36 on the other.
My son had blood drawn for a genetic test last week. The Dr said, they would first test for the 32 most common CF mutations, and then for the remaining CF mutations. The Dr says, that if Patrick has CF he would expect the more uncommon mutations. Patrick is scheduled for sinus surgery July 29. His sinuses are inflamed w/ thick mucus, and they are conserned he may have polyps.
Patrick does his therapy vest 3 times a day w/ the albuteral,and does his Pulmicort twice a day. We are trying to get Patrick the Pulmazyme, but we are fighting w/ the insurance right now.
Patrick was born w/ a heart defect, but it has been repaired. when he was 2 years old.
Open to any advice.

 

[hotrodsmom]

My son , Patrick is 7 years old. he is very small for his age. His hieght is 43.54 inches, and his weight is 37.40 pounds.
<br />Patrick has a history of reccurent upper and lower respiratory infections, chronic cough, bronchiectasis, asthma, otitis media and sinusitis.
<br />Patrick had two sweat tests done in June. First sweat test was 33 on one arm, and 49 on the other arm. The second sweat test was 33 on one arm, and 36 on the other.
<br />My son had blood drawn for a genetic test last week. The Dr said, they would first test for the 32 most common CF mutations, and then for the remaining CF mutations. The Dr says, that if Patrick has CF he would expect the more uncommon mutations. Patrick is scheduled for sinus surgery July 29. His sinuses are inflamed w/ thick mucus, and they are conserned he may have polyps.
<br />Patrick does his therapy vest 3 times a day w/ the albuteral,and does his Pulmicort twice a day. We are trying to get Patrick the Pulmazyme, but we are fighting w/ the insurance right now.
<br />Patrick was born w/ a heart defect, but it has been repaired. when he was 2 years old.
<br />Open to any advice.

 

[Mommafirst]

Hi Bethany,

No question the waiting and unknown is soooo hard. It seems to me that your doctor is expecting to find a CF diagnosis since your son is already being treated like a CF patient. Pulmozyme is a great med, a CF diagnosis will make approval a no-brainer for that.

(((HUGS))) I know its hard, I really do, but answers mean even better care for Patrick.

 

[Mommafirst]

Hi Bethany,

No question the waiting and unknown is soooo hard. It seems to me that your doctor is expecting to find a CF diagnosis since your son is already being treated like a CF patient. Pulmozyme is a great med, a CF diagnosis will make approval a no-brainer for that.

(((HUGS))) I know its hard, I really do, but answers mean even better care for Patrick.

 

[Mommafirst]

Hi Bethany,

No question the waiting and unknown is soooo hard. It seems to me that your doctor is expecting to find a CF diagnosis since your son is already being treated like a CF patient. Pulmozyme is a great med, a CF diagnosis will make approval a no-brainer for that.

(((HUGS))) I know its hard, I really do, but answers mean even better care for Patrick.

 

[Mommafirst]

Hi Bethany,

No question the waiting and unknown is soooo hard. It seems to me that your doctor is expecting to find a CF diagnosis since your son is already being treated like a CF patient. Pulmozyme is a great med, a CF diagnosis will make approval a no-brainer for that.

(((HUGS))) I know its hard, I really do, but answers mean even better care for Patrick.

 

[Mommafirst]

Hi Bethany,
<br />
<br />No question the waiting and unknown is soooo hard. It seems to me that your doctor is expecting to find a CF diagnosis since your son is already being treated like a CF patient. Pulmozyme is a great med, a CF diagnosis will make approval a no-brainer for that.
<br />
<br />(((HUGS))) I know its hard, I really do, but answers mean even better care for Patrick.

 

[stringbean]

That's wonderful that your doctor is taking this so seriously. We have a somewhat similar story -- but our pulmonologist is blowing us off. (We have an appointment with another doctor in Sept.) My daughter is the same weight as your son, but she is 2 inches taller. She turns 8 in a couple of weeks (on July 29 as a matter of fact.) Her initial sweat test also had that bizarre difference between arms. She came out with a 57 and 46. Her gastroenterologist told me they had never seen a result like that. The repeat test came out still borderline, but with only a couple of points difference between her arms (I think it was 46 and 48).

While we were waiting for the results of both the genetic test and the fecal fat test, we saw the aforementioned pulmonologist and she declared my daughter doesn't have CF. Rather than feeling relieved, I felt hugely concerned. Based on what? Her breathing test showed some "dimished capacity" and her lung x-ray "wasn't clear" (the doctor never explained what any of that meant). But whatever it meant, she was convinced my daughter was fine.

The fecal fat tests showed she is pancreatic insufficient and the genetic testing discovered one mutation. The pulmonologist again declared her to be CF free. And again, that could be great news, but as I tried to ask a question about the results, she just wrote down a name and told me to set up an appointment for a second opinion. Gladly!!!!! Thankfully our gastroenterologist is <i>fabulous</i>.

I don't have any advice for you -- but I just wanted to tell you, as I said at the beginning, it's wonderful that you've found a pro-active doctor that is treating your son's symptoms even without a firm diagnosis.

Best wishes for your son's surgery... {{{{{{huggggs}}}}}}

 

[stringbean]

That's wonderful that your doctor is taking this so seriously. We have a somewhat similar story -- but our pulmonologist is blowing us off. (We have an appointment with another doctor in Sept.) My daughter is the same weight as your son, but she is 2 inches taller. She turns 8 in a couple of weeks (on July 29 as a matter of fact.) Her initial sweat test also had that bizarre difference between arms. She came out with a 57 and 46. Her gastroenterologist told me they had never seen a result like that. The repeat test came out still borderline, but with only a couple of points difference between her arms (I think it was 46 and 48).

While we were waiting for the results of both the genetic test and the fecal fat test, we saw the aforementioned pulmonologist and she declared my daughter doesn't have CF. Rather than feeling relieved, I felt hugely concerned. Based on what? Her breathing test showed some "dimished capacity" and her lung x-ray "wasn't clear" (the doctor never explained what any of that meant). But whatever it meant, she was convinced my daughter was fine.

The fecal fat tests showed she is pancreatic insufficient and the genetic testing discovered one mutation. The pulmonologist again declared her to be CF free. And again, that could be great news, but as I tried to ask a question about the results, she just wrote down a name and told me to set up an appointment for a second opinion. Gladly!!!!! Thankfully our gastroenterologist is <i>fabulous</i>.

I don't have any advice for you -- but I just wanted to tell you, as I said at the beginning, it's wonderful that you've found a pro-active doctor that is treating your son's symptoms even without a firm diagnosis.

Best wishes for your son's surgery... {{{{{{huggggs}}}}}}

 

[stringbean]

That's wonderful that your doctor is taking this so seriously. We have a somewhat similar story -- but our pulmonologist is blowing us off. (We have an appointment with another doctor in Sept.) My daughter is the same weight as your son, but she is 2 inches taller. She turns 8 in a couple of weeks (on July 29 as a matter of fact.) Her initial sweat test also had that bizarre difference between arms. She came out with a 57 and 46. Her gastroenterologist told me they had never seen a result like that. The repeat test came out still borderline, but with only a couple of points difference between her arms (I think it was 46 and 48).

While we were waiting for the results of both the genetic test and the fecal fat test, we saw the aforementioned pulmonologist and she declared my daughter doesn't have CF. Rather than feeling relieved, I felt hugely concerned. Based on what? Her breathing test showed some "dimished capacity" and her lung x-ray "wasn't clear" (the doctor never explained what any of that meant). But whatever it meant, she was convinced my daughter was fine.

The fecal fat tests showed she is pancreatic insufficient and the genetic testing discovered one mutation. The pulmonologist again declared her to be CF free. And again, that could be great news, but as I tried to ask a question about the results, she just wrote down a name and told me to set up an appointment for a second opinion. Gladly!!!!! Thankfully our gastroenterologist is <i>fabulous</i>.

I don't have any advice for you -- but I just wanted to tell you, as I said at the beginning, it's wonderful that you've found a pro-active doctor that is treating your son's symptoms even without a firm diagnosis.

Best wishes for your son's surgery... {{{{{{huggggs}}}}}}

 

[stringbean]

That's wonderful that your doctor is taking this so seriously. We have a somewhat similar story -- but our pulmonologist is blowing us off. (We have an appointment with another doctor in Sept.) My daughter is the same weight as your son, but she is 2 inches taller. She turns 8 in a couple of weeks (on July 29 as a matter of fact.) Her initial sweat test also had that bizarre difference between arms. She came out with a 57 and 46. Her gastroenterologist told me they had never seen a result like that. The repeat test came out still borderline, but with only a couple of points difference between her arms (I think it was 46 and 48).

While we were waiting for the results of both the genetic test and the fecal fat test, we saw the aforementioned pulmonologist and she declared my daughter doesn't have CF. Rather than feeling relieved, I felt hugely concerned. Based on what? Her breathing test showed some "dimished capacity" and her lung x-ray "wasn't clear" (the doctor never explained what any of that meant). But whatever it meant, she was convinced my daughter was fine.

The fecal fat tests showed she is pancreatic insufficient and the genetic testing discovered one mutation. The pulmonologist again declared her to be CF free. And again, that could be great news, but as I tried to ask a question about the results, she just wrote down a name and told me to set up an appointment for a second opinion. Gladly!!!!! Thankfully our gastroenterologist is <i>fabulous</i>.

I don't have any advice for you -- but I just wanted to tell you, as I said at the beginning, it's wonderful that you've found a pro-active doctor that is treating your son's symptoms even without a firm diagnosis.

Best wishes for your son's surgery... {{{{{{huggggs}}}}}}

 

[stringbean]

That's wonderful that your doctor is taking this so seriously. We have a somewhat similar story -- but our pulmonologist is blowing us off. (We have an appointment with another doctor in Sept.) My daughter is the same weight as your son, but she is 2 inches taller. She turns 8 in a couple of weeks (on July 29 as a matter of fact.) Her initial sweat test also had that bizarre difference between arms. She came out with a 57 and 46. Her gastroenterologist told me they had never seen a result like that. The repeat test came out still borderline, but with only a couple of points difference between her arms (I think it was 46 and 48).
<br />
<br />While we were waiting for the results of both the genetic test and the fecal fat test, we saw the aforementioned pulmonologist and she declared my daughter doesn't have CF. Rather than feeling relieved, I felt hugely concerned. Based on what? Her breathing test showed some "dimished capacity" and her lung x-ray "wasn't clear" (the doctor never explained what any of that meant). But whatever it meant, she was convinced my daughter was fine.
<br />
<br />The fecal fat tests showed she is pancreatic insufficient and the genetic testing discovered one mutation. The pulmonologist again declared her to be CF free. And again, that could be great news, but as I tried to ask a question about the results, she just wrote down a name and told me to set up an appointment for a second opinion. Gladly!!!!! Thankfully our gastroenterologist is <i>fabulous</i>.
<br />
<br />I don't have any advice for you -- but I just wanted to tell you, as I said at the beginning, it's wonderful that you've found a pro-active doctor that is treating your son's symptoms even without a firm diagnosis.
<br />
<br />Best wishes for your son's surgery... {{{{{{huggggs}}}}}}

 

[hotrodsmom]

The waiting and the unknown is very hard. I just wish I knew if my one son has CF or not, so I would know weather or not to have my other 2 boys tested.

My older son Lane has asthma, and it has been bothering him more than usual. He is just now getting over pnemonia.
I am not sure if I should be conserned yet.

I am very thankful for the group of Drs my son has, and that they are taking it so seriously. I hope you get some answers w/ this other pulmonalygist. You and your daughter will be in my thoughts and prayers.

 

[hotrodsmom]

The waiting and the unknown is very hard. I just wish I knew if my one son has CF or not, so I would know weather or not to have my other 2 boys tested.

My older son Lane has asthma, and it has been bothering him more than usual. He is just now getting over pnemonia.
I am not sure if I should be conserned yet.

I am very thankful for the group of Drs my son has, and that they are taking it so seriously. I hope you get some answers w/ this other pulmonalygist. You and your daughter will be in my thoughts and prayers.

 

[hotrodsmom]

The waiting and the unknown is very hard. I just wish I knew if my one son has CF or not, so I would know weather or not to have my other 2 boys tested.

My older son Lane has asthma, and it has been bothering him more than usual. He is just now getting over pnemonia.
I am not sure if I should be conserned yet.

I am very thankful for the group of Drs my son has, and that they are taking it so seriously. I hope you get some answers w/ this other pulmonalygist. You and your daughter will be in my thoughts and prayers.

 

[hotrodsmom]

The waiting and the unknown is very hard. I just wish I knew if my one son has CF or not, so I would know weather or not to have my other 2 boys tested.

My older son Lane has asthma, and it has been bothering him more than usual. He is just now getting over pnemonia.
I am not sure if I should be conserned yet.

I am very thankful for the group of Drs my son has, and that they are taking it so seriously. I hope you get some answers w/ this other pulmonalygist. You and your daughter will be in my thoughts and prayers.

 

[hotrodsmom]

The waiting and the unknown is very hard. I just wish I knew if my one son has CF or not, so I would know weather or not to have my other 2 boys tested.
<br />
<br />My older son Lane has asthma, and it has been bothering him more than usual. He is just now getting over pnemonia.
<br />I am not sure if I should be conserned yet.
<br />
<br />I am very thankful for the group of Drs my son has, and that they are taking it so seriously. I hope you get some answers w/ this other pulmonalygist. You and your daughter will be in my thoughts and prayers.