Guest guest Posted January 2, 2004 Report Share Posted January 2, 2004 Our son Will age 18 months has G551D and R117H mutations. I am not able to post often, but always read. This is a great group with loads of support and information. To date, Will has had no symptoms of CF. By no means do we feel that this means Will does not have CF, or even a mild case. Will sees his CF doctor every 3 months for maintenance and more if necessary. We feel " lucky " in the sense that we can be one step ahead of CF --- you know, an ounce of prevention..... WHat we know about the R117H mutation is the sweat test can be lower than the range specified by the cff. I believe Will's value was 24 and 26. We also know that the mutation is associated with Pancreatic Sufficiency. Will currently does not have to take enzymes, but our doctor warns us that it is very likely that at some point Will may need them. I know it is scary to find out that your child has CF. I think everyone on this list can attest to that. I would be happy to " talk " further. If you have any questions please email me. Mom to Bridget age 3 w/o cf, Will age 18 months wcf, e 3 months w/o cf Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 2, 2004 Report Share Posted January 2, 2004 I think you have that R117H mutation down cold! n Re: New to this - R117H Our son Will age 18 months has G551D and R117H mutations. I am not able to post often, but always read. This is a great group with loads of support and information. To date, Will has had no symptoms of CF. By no means do we feel that this means Will does not have CF, or even a mild case. Will sees his CF doctor every 3 months for maintenance and more if necessary. We feel " lucky " in the sense that we can be one step ahead of CF --- you know, an ounce of prevention..... WHat we know about the R117H mutation is the sweat test can be lower than the range specified by the cff. I believe Will's value was 24 and 26. We also know that the mutation is associated with Pancreatic Sufficiency. Will currently does not have to take enzymes, but our doctor warns us that it is very likely that at some point Will may need them. I know it is scary to find out that your child has CF. I think everyone on this list can attest to that. I would be happy to " talk " further. If you have any questions please email me. Mom to Bridget age 3 w/o cf, Will age 18 months wcf, e 3 months w/o cf ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
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