M
Mommafirst
Guest
Benign would mean that they aren't disease causing. They are mutated versions of the gene, but they function the same as the regular CFTR.
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I have the mutations finally!! Anyone know ANYTHING!?
- Thread starter makahfili
- Start date
All of Jacks (3)sequence variations say benign - we are going for a full work up at a CF Center (They have reviewed all of his tests) because he is on Pulmozyme but do you think it is safe to say he does not have CF?
Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
THANK YOU SO MUCH
Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
THANK YOU SO MUCH
All of Jacks (3)sequence variations say benign - we are going for a full work up at a CF Center (They have reviewed all of his tests) because he is on Pulmozyme but do you think it is safe to say he does not have CF?
Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
THANK YOU SO MUCH
Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
THANK YOU SO MUCH
All of Jacks (3)sequence variations say benign - we are going for a full work up at a CF Center (They have reviewed all of his tests) because he is on Pulmozyme but do you think it is safe to say he does not have CF?
<br />Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
<br />THANK YOU SO MUCH
<br />Jack has (since birth) lower lobe thick mucus - recurrent pneumonia (lower lobe), asthma, pan-sinusitis, finger clubbing, barrel chest. Steroids and antibiotics don't help much. PFT's show pulmonary obstruction.
<br />THANK YOU SO MUCH
M
Mommafirst
Guest
. I have the mutations finally!! Anyone know ANYTHING!?
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
M
Mommafirst
Guest
. I have the mutations finally!! Anyone know ANYTHING!?
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
M
Mommafirst
Guest
. I have the mutations finally!! Anyone know ANYTHING!?
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
wow -- I don't know. I guess I'd want to know what made them decide that the mutations are considered benign. Usually, from what I understood, they find a mutation and if they don't see it associated with clinical symptoms they call it benign. But if he has those symptoms, it may result in a reclassification of those mutations, since he DOES have mutations and he DOES have CF symptoms. That would seem to be the whole determination of diagnosis -- but I'm not a doctor, so who knows if I am right.
C
Cherylwithone
Guest
I would this under "Welcome Ambry Genetics" It is under the family section. Steven Kelies can explain what it means. He is really good with stuff like this. Sometimes it takes a few days for him to answer because he travels alot.
C
Cherylwithone
Guest
I would this under "Welcome Ambry Genetics" It is under the family section. Steven Kelies can explain what it means. He is really good with stuff like this. Sometimes it takes a few days for him to answer because he travels alot.
C
Cherylwithone
Guest
I would this under "Welcome Ambry Genetics" It is under the family section. Steven Kelies can explain what it means. He is really good with stuff like this. Sometimes it takes a few days for him to answer because he travels alot.