What is the next step?

M

Mommy2Zeke

Guest
I've posted a bit before now about this, but over the past few months it's become abundantly clear that I need to do something.

Here's my history. Always had chronic sinusitis- 2 extensive surgeries and I still fight of sinus infections once a month. Asthma, pneumonia 1 or 2x a year on average, but recently 2 bouts of atypical pneumonia. My son (11 months old with CF) just cultured H flu nasally. And I suspected I might have caught it from him- runny nose just like his and now I've woken up in the middle of the night short of breath, feeling like my lungs are wet.

The last time this happened- just 4 months ago, I went to a doctor who told me I sounded perfectly clear, but an x-ray revealed pneumonia, and it wasn't a common pneumonia. He didn't actually tell me what I cultured then. Let's just say the doctor was shocked to learn I had pneumonia that bad with no other symptoms except a very low grade fever and being short of breath (my oxygen saturation was 89- which is low for me).

Anyway... other symptoms, I've had bouts of chronic dry cough lasting as long as six months. I know I must have scarring in my lungs from pneumonias past because I feel a weird wheeze in the mornings when I first wake up.

Also, there's the GI issues. I'm lactose intolerant and I've been diagnosed with IBS that has seemed to get worse in the past two years.

The problem is, my Allergist/Asthma Doc thinks I'm just a symptomatic carrier. I'm beginning to think she is wrong. My son's doctor wants me to be genetically tested. What test should I do? My son is homozygous DeltaF508, so I know I have at least one DeltaF508 gene. Do you all think a basic CF genetic panel is worth it or should I just go ahead and get the Ambry Amplified?
 
M

Mommy2Zeke

Guest
I've posted a bit before now about this, but over the past few months it's become abundantly clear that I need to do something.

Here's my history. Always had chronic sinusitis- 2 extensive surgeries and I still fight of sinus infections once a month. Asthma, pneumonia 1 or 2x a year on average, but recently 2 bouts of atypical pneumonia. My son (11 months old with CF) just cultured H flu nasally. And I suspected I might have caught it from him- runny nose just like his and now I've woken up in the middle of the night short of breath, feeling like my lungs are wet.

The last time this happened- just 4 months ago, I went to a doctor who told me I sounded perfectly clear, but an x-ray revealed pneumonia, and it wasn't a common pneumonia. He didn't actually tell me what I cultured then. Let's just say the doctor was shocked to learn I had pneumonia that bad with no other symptoms except a very low grade fever and being short of breath (my oxygen saturation was 89- which is low for me).

Anyway... other symptoms, I've had bouts of chronic dry cough lasting as long as six months. I know I must have scarring in my lungs from pneumonias past because I feel a weird wheeze in the mornings when I first wake up.

Also, there's the GI issues. I'm lactose intolerant and I've been diagnosed with IBS that has seemed to get worse in the past two years.

The problem is, my Allergist/Asthma Doc thinks I'm just a symptomatic carrier. I'm beginning to think she is wrong. My son's doctor wants me to be genetically tested. What test should I do? My son is homozygous DeltaF508, so I know I have at least one DeltaF508 gene. Do you all think a basic CF genetic panel is worth it or should I just go ahead and get the Ambry Amplified?
 
M

Mommy2Zeke

Guest
I've posted a bit before now about this, but over the past few months it's become abundantly clear that I need to do something.

Here's my history. Always had chronic sinusitis- 2 extensive surgeries and I still fight of sinus infections once a month. Asthma, pneumonia 1 or 2x a year on average, but recently 2 bouts of atypical pneumonia. My son (11 months old with CF) just cultured H flu nasally. And I suspected I might have caught it from him- runny nose just like his and now I've woken up in the middle of the night short of breath, feeling like my lungs are wet.

The last time this happened- just 4 months ago, I went to a doctor who told me I sounded perfectly clear, but an x-ray revealed pneumonia, and it wasn't a common pneumonia. He didn't actually tell me what I cultured then. Let's just say the doctor was shocked to learn I had pneumonia that bad with no other symptoms except a very low grade fever and being short of breath (my oxygen saturation was 89- which is low for me).

Anyway... other symptoms, I've had bouts of chronic dry cough lasting as long as six months. I know I must have scarring in my lungs from pneumonias past because I feel a weird wheeze in the mornings when I first wake up.

Also, there's the GI issues. I'm lactose intolerant and I've been diagnosed with IBS that has seemed to get worse in the past two years.

The problem is, my Allergist/Asthma Doc thinks I'm just a symptomatic carrier. I'm beginning to think she is wrong. My son's doctor wants me to be genetically tested. What test should I do? My son is homozygous DeltaF508, so I know I have at least one DeltaF508 gene. Do you all think a basic CF genetic panel is worth it or should I just go ahead and get the Ambry Amplified?
 
M

Mommy2Zeke

Guest
I've posted a bit before now about this, but over the past few months it's become abundantly clear that I need to do something.

Here's my history. Always had chronic sinusitis- 2 extensive surgeries and I still fight of sinus infections once a month. Asthma, pneumonia 1 or 2x a year on average, but recently 2 bouts of atypical pneumonia. My son (11 months old with CF) just cultured H flu nasally. And I suspected I might have caught it from him- runny nose just like his and now I've woken up in the middle of the night short of breath, feeling like my lungs are wet.

The last time this happened- just 4 months ago, I went to a doctor who told me I sounded perfectly clear, but an x-ray revealed pneumonia, and it wasn't a common pneumonia. He didn't actually tell me what I cultured then. Let's just say the doctor was shocked to learn I had pneumonia that bad with no other symptoms except a very low grade fever and being short of breath (my oxygen saturation was 89- which is low for me).

Anyway... other symptoms, I've had bouts of chronic dry cough lasting as long as six months. I know I must have scarring in my lungs from pneumonias past because I feel a weird wheeze in the mornings when I first wake up.

Also, there's the GI issues. I'm lactose intolerant and I've been diagnosed with IBS that has seemed to get worse in the past two years.

The problem is, my Allergist/Asthma Doc thinks I'm just a symptomatic carrier. I'm beginning to think she is wrong. My son's doctor wants me to be genetically tested. What test should I do? My son is homozygous DeltaF508, so I know I have at least one DeltaF508 gene. Do you all think a basic CF genetic panel is worth it or should I just go ahead and get the Ambry Amplified?
 
M

Mommy2Zeke

Guest
I've posted a bit before now about this, but over the past few months it's become abundantly clear that I need to do something.
<br />
<br />Here's my history. Always had chronic sinusitis- 2 extensive surgeries and I still fight of sinus infections once a month. Asthma, pneumonia 1 or 2x a year on average, but recently 2 bouts of atypical pneumonia. My son (11 months old with CF) just cultured H flu nasally. And I suspected I might have caught it from him- runny nose just like his and now I've woken up in the middle of the night short of breath, feeling like my lungs are wet.
<br />
<br />The last time this happened- just 4 months ago, I went to a doctor who told me I sounded perfectly clear, but an x-ray revealed pneumonia, and it wasn't a common pneumonia. He didn't actually tell me what I cultured then. Let's just say the doctor was shocked to learn I had pneumonia that bad with no other symptoms except a very low grade fever and being short of breath (my oxygen saturation was 89- which is low for me).
<br />
<br />Anyway... other symptoms, I've had bouts of chronic dry cough lasting as long as six months. I know I must have scarring in my lungs from pneumonias past because I feel a weird wheeze in the mornings when I first wake up.
<br />
<br />Also, there's the GI issues. I'm lactose intolerant and I've been diagnosed with IBS that has seemed to get worse in the past two years.
<br />
<br />The problem is, my Allergist/Asthma Doc thinks I'm just a symptomatic carrier. I'm beginning to think she is wrong. My son's doctor wants me to be genetically tested. What test should I do? My son is homozygous DeltaF508, so I know I have at least one DeltaF508 gene. Do you all think a basic CF genetic panel is worth it or should I just go ahead and get the Ambry Amplified?
 
J

just1more

New member
I think you should definately be tested. If the Dr is willing to say symptomatic carrier he/she sees enough to warrant testing.

As for which, you might start with the basic panel (~100ish genes) since you know you have a DF508. If it comes back w/o a 2nd then you discuss the Ambry test.

I wish you luck in getting some answers.
 
J

just1more

New member
I think you should definately be tested. If the Dr is willing to say symptomatic carrier he/she sees enough to warrant testing.

As for which, you might start with the basic panel (~100ish genes) since you know you have a DF508. If it comes back w/o a 2nd then you discuss the Ambry test.

I wish you luck in getting some answers.
 
J

just1more

New member
I think you should definately be tested. If the Dr is willing to say symptomatic carrier he/she sees enough to warrant testing.

As for which, you might start with the basic panel (~100ish genes) since you know you have a DF508. If it comes back w/o a 2nd then you discuss the Ambry test.

I wish you luck in getting some answers.
 
J

just1more

New member
I think you should definately be tested. If the Dr is willing to say symptomatic carrier he/she sees enough to warrant testing.

As for which, you might start with the basic panel (~100ish genes) since you know you have a DF508. If it comes back w/o a 2nd then you discuss the Ambry test.

I wish you luck in getting some answers.
 
J

just1more

New member
I think you should definately be tested. If the Dr is willing to say symptomatic carrier he/she sees enough to warrant testing.
<br />
<br />As for which, you might start with the basic panel (~100ish genes) since you know you have a DF508. If it comes back w/o a 2nd then you discuss the Ambry test.
<br />
<br />I wish you luck in getting some answers.
 
J

JORDYSMOM

New member
What Tom said! If you have the means to be tested, and a doctor willing to order it, go for it. I wish you the best. Let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
What Tom said! If you have the means to be tested, and a doctor willing to order it, go for it. I wish you the best. Let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
What Tom said! If you have the means to be tested, and a doctor willing to order it, go for it. I wish you the best. Let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
What Tom said! If you have the means to be tested, and a doctor willing to order it, go for it. I wish you the best. Let us know what you find out.

Stacey
 
J

JORDYSMOM

New member
What Tom said! If you have the means to be tested, and a doctor willing to order it, go for it. I wish you the best. Let us know what you find out.
<br />
<br />Stacey
 
H

hmw

New member
I'd go for testing too, but would just go for the Ambry Amplified if possible. If a basic panel comes back negative it might be harder to get insurance to cover a 2nd test; whereas going into testing with symptoms you might be able to just get insurance to cover the 'good test' right off the bat to begin with, since it's known you have at least one mutation.

If you didn't have a child with cf, this same dr may well be ordering the full testing for you already. The fact that you have a child with cf may be coloring his opinion and making him feel without working you up in an unbiased way that you are 'just' a carrier, if that makes sense. IMO, he needs to investigate this possibility as if you were a 'new' patient (new meaning: not knowing already about your son's cf.) I'd look into contacting a pulmonologist of your own- your son's cf dr can probably recommend one- if you don't have any success with the allergist.
 
H

hmw

New member
I'd go for testing too, but would just go for the Ambry Amplified if possible. If a basic panel comes back negative it might be harder to get insurance to cover a 2nd test; whereas going into testing with symptoms you might be able to just get insurance to cover the 'good test' right off the bat to begin with, since it's known you have at least one mutation.

If you didn't have a child with cf, this same dr may well be ordering the full testing for you already. The fact that you have a child with cf may be coloring his opinion and making him feel without working you up in an unbiased way that you are 'just' a carrier, if that makes sense. IMO, he needs to investigate this possibility as if you were a 'new' patient (new meaning: not knowing already about your son's cf.) I'd look into contacting a pulmonologist of your own- your son's cf dr can probably recommend one- if you don't have any success with the allergist.
 
H

hmw

New member
I'd go for testing too, but would just go for the Ambry Amplified if possible. If a basic panel comes back negative it might be harder to get insurance to cover a 2nd test; whereas going into testing with symptoms you might be able to just get insurance to cover the 'good test' right off the bat to begin with, since it's known you have at least one mutation.

If you didn't have a child with cf, this same dr may well be ordering the full testing for you already. The fact that you have a child with cf may be coloring his opinion and making him feel without working you up in an unbiased way that you are 'just' a carrier, if that makes sense. IMO, he needs to investigate this possibility as if you were a 'new' patient (new meaning: not knowing already about your son's cf.) I'd look into contacting a pulmonologist of your own- your son's cf dr can probably recommend one- if you don't have any success with the allergist.
 
H

hmw

New member
I'd go for testing too, but would just go for the Ambry Amplified if possible. If a basic panel comes back negative it might be harder to get insurance to cover a 2nd test; whereas going into testing with symptoms you might be able to just get insurance to cover the 'good test' right off the bat to begin with, since it's known you have at least one mutation.

If you didn't have a child with cf, this same dr may well be ordering the full testing for you already. The fact that you have a child with cf may be coloring his opinion and making him feel without working you up in an unbiased way that you are 'just' a carrier, if that makes sense. IMO, he needs to investigate this possibility as if you were a 'new' patient (new meaning: not knowing already about your son's cf.) I'd look into contacting a pulmonologist of your own- your son's cf dr can probably recommend one- if you don't have any success with the allergist.
 
H

hmw

New member
I'd go for testing too, but would just go for the Ambry Amplified if possible. If a basic panel comes back negative it might be harder to get insurance to cover a 2nd test; whereas going into testing with symptoms you might be able to just get insurance to cover the 'good test' right off the bat to begin with, since it's known you have at least one mutation.
<br />
<br />If you didn't have a child with cf, this same dr may well be ordering the full testing for you already. The fact that you have a child with cf may be coloring his opinion and making him feel without working you up in an unbiased way that you are 'just' a carrier, if that makes sense. IMO, he needs to investigate this possibility as if you were a 'new' patient (new meaning: not knowing already about your son's cf.) I'd look into contacting a pulmonologist of your own- your son's cf dr can probably recommend one- if you don't have any success with the allergist.
 
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