Desperately seeking answers

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NannyAnn

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">Hi everyone I would like to start by saying what a wonderful site this is - you are all an inspiration! I'm not sure this post belongs here but I'm posting anywhere I feel there could be a helping hand and understanding...
I have a grandaughter who was diagnosed as having Situs Inversus Totalis. She also has Epilepsy but other than this she is very healthy. She the eldest of four children within her family, however the youngest child (male 9 months old) has suffered repeated chest infections and cold like symptoms since birth. Originally they told us he had Asthma but then recently was admitted into hosprital with a chest infection which we were then told was pneumonia. Sputem samples were taken and when the results came back we were told they now want to do sweat tests to test him for Cystic Fibrosis. I have read much about PCD and can't help but think (or hope) this might be the diagnosis of his problem. Can any give me any info I may not already know on PCD. How do I get the doctors to test him for this also or is there a private medical test we can have done in the UK? I hope you can give some advice on this. Anything would be appreciated even if you think I'm clutching at straws! Many thanks Ann x
 
N

NannyAnn

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">Hi everyone I would like to start by saying what a wonderful site this is - you are all an inspiration! I'm not sure this post belongs here but I'm posting anywhere I feel there could be a helping hand and understanding...
I have a grandaughter who was diagnosed as having Situs Inversus Totalis. She also has Epilepsy but other than this she is very healthy. She the eldest of four children within her family, however the youngest child (male 9 months old) has suffered repeated chest infections and cold like symptoms since birth. Originally they told us he had Asthma but then recently was admitted into hosprital with a chest infection which we were then told was pneumonia. Sputem samples were taken and when the results came back we were told they now want to do sweat tests to test him for Cystic Fibrosis. I have read much about PCD and can't help but think (or hope) this might be the diagnosis of his problem. Can any give me any info I may not already know on PCD. How do I get the doctors to test him for this also or is there a private medical test we can have done in the UK? I hope you can give some advice on this. Anything would be appreciated even if you think I'm clutching at straws! Many thanks Ann x
 
N

NannyAnn

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">Hi everyone I would like to start by saying what a wonderful site this is - you are all an inspiration! I'm not sure this post belongs here but I'm posting anywhere I feel there could be a helping hand and understanding...
I have a grandaughter who was diagnosed as having Situs Inversus Totalis. She also has Epilepsy but other than this she is very healthy. She the eldest of four children within her family, however the youngest child (male 9 months old) has suffered repeated chest infections and cold like symptoms since birth. Originally they told us he had Asthma but then recently was admitted into hosprital with a chest infection which we were then told was pneumonia. Sputem samples were taken and when the results came back we were told they now want to do sweat tests to test him for Cystic Fibrosis. I have read much about PCD and can't help but think (or hope) this might be the diagnosis of his problem. Can any give me any info I may not already know on PCD. How do I get the doctors to test him for this also or is there a private medical test we can have done in the UK? I hope you can give some advice on this. Anything would be appreciated even if you think I'm clutching at straws! Many thanks Ann x
 
C

concernedmom

New member
Good morning. My guess would also be PCD because of the situs inversus. There is an email list you can join on Yahoo for PCD. I would try there. Like CF, the presentation with PCD can be very different from one child to the next. If in fact, your grandson has PCD, you'll definitely want to get the oldest child tested due to the situs inversus. Also like CF, if both parents are carriers, each child has a 1 in 4 chance of having either PCD or Kartageners (PCD w/situs inversus.) As far as testing, CF tends to be rule out first because (1) the testing is cheaper, and (2) it's less invasive. Testing for PCD involves a cilia biopsy which on an infant usually requires sedation and a bronchoscopy. Try UNC, they seem to be the leaders in diagnosing/treating PCD in the US: http://www.med.unc.edu/wrkunits/3ctrpgm/cystfib/PCD.htm
In the UK, here's a support site that may be able to help with resources:
http://www.pcdsupport.org.uk/
HTH!
 
C

concernedmom

New member
Good morning. My guess would also be PCD because of the situs inversus. There is an email list you can join on Yahoo for PCD. I would try there. Like CF, the presentation with PCD can be very different from one child to the next. If in fact, your grandson has PCD, you'll definitely want to get the oldest child tested due to the situs inversus. Also like CF, if both parents are carriers, each child has a 1 in 4 chance of having either PCD or Kartageners (PCD w/situs inversus.) As far as testing, CF tends to be rule out first because (1) the testing is cheaper, and (2) it's less invasive. Testing for PCD involves a cilia biopsy which on an infant usually requires sedation and a bronchoscopy. Try UNC, they seem to be the leaders in diagnosing/treating PCD in the US: http://www.med.unc.edu/wrkunits/3ctrpgm/cystfib/PCD.htm
In the UK, here's a support site that may be able to help with resources:
http://www.pcdsupport.org.uk/
HTH!
 
C

concernedmom

New member
Good morning. My guess would also be PCD because of the situs inversus. There is an email list you can join on Yahoo for PCD. I would try there. Like CF, the presentation with PCD can be very different from one child to the next. If in fact, your grandson has PCD, you'll definitely want to get the oldest child tested due to the situs inversus. Also like CF, if both parents are carriers, each child has a 1 in 4 chance of having either PCD or Kartageners (PCD w/situs inversus.) As far as testing, CF tends to be rule out first because (1) the testing is cheaper, and (2) it's less invasive. Testing for PCD involves a cilia biopsy which on an infant usually requires sedation and a bronchoscopy. Try UNC, they seem to be the leaders in diagnosing/treating PCD in the US: http://www.med.unc.edu/wrkunits/3ctrpgm/cystfib/PCD.htm
In the UK, here's a support site that may be able to help with resources:
http://www.pcdsupport.org.uk/
HTH!
 
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