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P5L CF mutation


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Old 08-16-2016, 12:44 PM   #1
Voodooannie
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Join Date: Aug 2016
Location: Milwaukee, WI
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P5L CF mutation

Hi! My son was diagnosed at one month old w/rare & very mild CF. He carries the D 508 & P5L. This means he is pancreatic sufficient & has shown no other symptoms thus far (he's now 1yr old). Our dr feels that him presenting symptoms would be a low possibility & if he does, it would very mild respiritory. We are VERY lucky & VERY thankful. However, this can be frustrating since there are no other kids like him that have been treated at our hospital or near to us. My husband & I have done as much research as can be found, but it is slim. So it is hard for us to feel safe in the outlook or the treatment plan.
I really would love to chat w/other parents who are in this same situation. I know that there had been a thread on this site about P5L but it was last posted on in 2011 & is now closed.
Anyone out there?

 
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