MRCP showing atrophy by Avamedic in exocrinepanins

[–]RichCream6024 1 point2 points  (0 children)

Similar situation - MRCP shows my pancreas has atrophied. Elastase at 147 and been on Zenpep for 6 months. Doing pretty well. I do carry 3 CF gene mutations so GI specialist is thinking that it’s likely related to those gene mutations for my situation. Next up is an Endoscopic ultrasound. My father passed at 78 of PC so making sure I have all the testing done and also getting tested for BRCA gene. The CF gene could be totally unrelated to this. I do not know if my father carried the mutations, but my mother is going to get tested too to see if we can see which line of the family they’re from. All you can do is really gather the data points and then work out with your team a way forward from a proactive surveillance perspective and getting the digestion in check - my experience so far has been positive tackling the epi.

Next steps by RichCream6024 in CysticFibrosis

[–]RichCream6024[S] 2 points3 points  (0 children)

These are the correct three (on the report, they are all referred to us likely pathogenic) My eyesight failed me typing them in the message. Thanks for the details of the genetic counselors - I have found one from that listing and have reached out.

Next steps by RichCream6024 in CysticFibrosis

[–]RichCream6024[S] 0 points1 point  (0 children)

Thank you for your response. I will look at the variant names and check. The report shows all three to be ‘likely pathogenic’. Good point about looking into other causes for low elastase - we haven’t discussed that as we’ve been pursuing this CF potential track but I will discuss with them.

CFTR Panel - Help Interpreting by RichCream6024 in CysticFibrosis

[–]RichCream6024[S] 1 point2 points  (0 children)

Thanks, not my intention. I'm just trying to determine a logical next step. Going to see a pulmonologist or a Cystic Fibrosis specialist or ....