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Re: New to this - R117H

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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

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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.

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