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  1. S

    I have the mutations finally!! Anyone know ANYTHING!?

    I did put it there - he says those are common variants non disease causing - but I don't know if I agree with science all the time
  2. S

    I have the mutations finally!! Anyone know ANYTHING!?

    I did put it there - he says those are common variants non disease causing - but I don't know if I agree with science all the time
  3. S

    I have the mutations finally!! Anyone know ANYTHING!?

    I did put it there - he says those are common variants non disease causing - but I don't know if I agree with science all the time
  4. S

    I have the mutations finally!! Anyone know ANYTHING!?

    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...
  5. S

    I have the mutations finally!! Anyone know ANYTHING!?

    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...
  6. S

    I have the mutations finally!! Anyone know ANYTHING!?

    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...
  7. S

    I have the mutations finally!! Anyone know ANYTHING!?

    Jack has the same ones and one additional. I have heard they are non disease causing
  8. S

    I have the mutations finally!! Anyone know ANYTHING!?

    Jack has the same ones and one additional. I have heard they are non disease causing
  9. S

    I have the mutations finally!! Anyone know ANYTHING!?

    Jack has the same ones and one additional. I have heard they are non disease causing
  10. S

    What to do

    Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
  11. S

    What to do

    Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
  12. S

    What to do

    Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
  13. S

    Welcome Ambry Genetics

    The sweat tests are low - not borderline at all. What does no significance mean? Does that mean these changes are "normal"? Or does it mean that no one knows.
  14. S

    What to do

    I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was...
  15. S

    What to do

    I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was...
  16. S

    What to do

    I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was...
  17. S

    Welcome Ambry Genetics

    Hello My son is 7 years old and has had two sweat tests both normal - he lives with very thick mucus causing airway obstruction since two weeks old. He has had bronchoscopies, bronchial lavage (unable to get mucus out too thick) also has pansinusitis. He had a blood test (two years ago) by...
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