Genetically Confirmed after 2 years

[Justinsmama]

I just want to share that after 2 years of minor questioning (my part as well as a couple of the doctors - not CF) my 9 year old son is genetically confirmed. Two and a half years ago we were known to have 1 mutation, 3 poly's, double 7t and have passed the sweat test. Clinically he showed signs (PI, small airway issues, 4 pneumonias) but there was always a little question in my mind. This spring we received the call from our current clinic after they re-ran the genetics to include deletions and duplications. We found out that what was thought to be a poly 2 years ago is now known to be disease causing. Not much information on it, but considered now to be CF with another known mutation. For those that are in that unknown world, medicine will catch up and (God willing) give you the answers you need one way or the other. Thank you again for all of your support.

 

[Beccamom]

Which poly is now known to he disease causing. My daughter has been in diagnostic limbo for 11 years. She has 1 known mutation and 2 polymorphisms and 7t9t.

I just want to share that after 2 years of minor questioning (my part as well as a couple of the doctors - not CF) my 9 year old son is genetically confirmed. Two and a half years ago we were known to have 1 mutation, 3 poly's, double 7t and have passed the sweat test. Clinically he showed signs (PI, small airway issues, 4 pneumonias) but there was always a little question in my mind. This spring we received the call from our current clinic after they re-ran the genetics to include deletions and duplications. We found out that what was thought to be a poly 2 years ago is now known to be disease causing. Not much information on it, but considered now to be CF with another known mutation. For those that are in that unknown world, medicine will catch up and (God willing) give you the answers you need one way or the other. Thank you again for all of your support.

 

[Imogene]

http://www.nih.gov/news/health/jul2014/nhgri-01.htm#.U7LjQmXZqAY.email
[h=1]NIH names new clinical sites in Undiagnosed Diseases Network[/h]

 

[Gibson75]

Hi Beccamom. What are your daughters mutations? My son has one known numerous polys and 7/9t as well. He is PI minor airway issues and has been in limbo too. He is two and GI doc says CF but Resp says unlikely.
Gibson

 

[Julie7]

My son too has poly 5t/12TG and 7t/11TG and 2 copies of M470v. His genetics with deletions and duplications wwre done a little over 2 years ago as well. Thanks for sharing.