Atypical CF

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braydensmommy39

New member
<P>My son was diagnosed in June with Atypical CF at John Hopkins, Baltimore MD. They started him on treatments and we have since transferred his care to CHOP. This has not been a smooth transition, as now the diagnosed is being questioned because my son has rare mutations. He also has a primary immune deficieny and I can't seem to get the doctors on the same page. Has anyone experienced this and do you have any advice?</P>
<P>Thanks </P>
 
B

braydensmommy39

New member
<P>My son was diagnosed in June with Atypical CF at John Hopkins, Baltimore MD. They started him on treatments and we have since transferred his care to CHOP. This has not been a smooth transition, as now the diagnosed is being questioned because my son has rare mutations. He also has a primary immune deficieny and I can't seem to get the doctors on the same page. Has anyone experienced this and do you have any advice?</P>
<P>Thanks </P>
 
B

braydensmommy39

New member
<P>My son was diagnosed in June with Atypical CF at John Hopkins, Baltimore MD. They started him on treatments and we have since transferred his care to CHOP. This has not been a smooth transition, as now the diagnosed is being questioned because my son has rare mutations. He also has a primary immune deficieny and I can't seem to get the doctors on the same page. Has anyone experienced this and do you have any advice?</P>
<P>Thanks </P>
 
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ymikhale

New member
In my opinion, if someone has two CF mutations, they have CF, period. When a mutation is rare, it means that the doctors might not know a lot about it, but in my view it is not a reason to question the CF diagnosis, your child needs all the preventative treatments and all the follow up that a child with more common mutations gets.

Just as a note, some doctors give this label of atypical CF very easily: my dd who has 2 rather common mutations, was recently labeled "light" CF even though she cultured PA twice, I was without pity with the doctor, to the point that she got really pale!
 
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ymikhale

New member
In my opinion, if someone has two CF mutations, they have CF, period. When a mutation is rare, it means that the doctors might not know a lot about it, but in my view it is not a reason to question the CF diagnosis, your child needs all the preventative treatments and all the follow up that a child with more common mutations gets.

Just as a note, some doctors give this label of atypical CF very easily: my dd who has 2 rather common mutations, was recently labeled "light" CF even though she cultured PA twice, I was without pity with the doctor, to the point that she got really pale!
 
Y

ymikhale

New member
In my opinion, if someone has two CF mutations, they have CF, period. When a mutation is rare, it means that the doctors might not know a lot about it, but in my view it is not a reason to question the CF diagnosis, your child needs all the preventative treatments and all the follow up that a child with more common mutations gets.

Just as a note, some doctors give this label of atypical CF very easily: my dd who has 2 rather common mutations, was recently labeled "light" CF even though she cultured PA twice, I was without pity with the doctor, to the point that she got really pale!
 
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Printer

Active member
There is a paper published in the JOURNAL OF THE ROYAL SOCIETY OF MEDICINE Supplomont No. 43 Volume 96 2002. This is available via Google and is titled Atypical Cystic Fibrosis-diagnostic and management delemmas.

I would suggest that you download this paper, become familar with it and give a copy to the CF Doctor in question.

Bill
 
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Printer

Active member
There is a paper published in the JOURNAL OF THE ROYAL SOCIETY OF MEDICINE Supplomont No. 43 Volume 96 2002. This is available via Google and is titled Atypical Cystic Fibrosis-diagnostic and management delemmas.

I would suggest that you download this paper, become familar with it and give a copy to the CF Doctor in question.

Bill
 
P

Printer

Active member
There is a paper published in the JOURNAL OF THE ROYAL SOCIETY OF MEDICINE Supplomont No. 43 Volume 96 2002. This is available via Google and is titled Atypical Cystic Fibrosis-diagnostic and management delemmas.

I would suggest that you download this paper, become familar with it and give a copy to the CF Doctor in question.

Bill
 
T

Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale. Mine was labeled that too and has grown a slew of bugs, Pseudo, acinebactor, stenomataphilia, etc....she has been hospitalized for months at a time....she is definitely not mild.
 
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Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale. Mine was labeled that too and has grown a slew of bugs, Pseudo, acinebactor, stenomataphilia, etc....she has been hospitalized for months at a time....she is definitely not mild.
 
T

Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale. Mine was labeled that too and has grown a slew of bugs, Pseudo, acinebactor, stenomataphilia, etc....she has been hospitalized for months at a time....she is definitely not mild.
 
T

Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale.
 
T

Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale.
 
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