<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>ktsmom</b></i>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
</end quote></div>
Your heath care provider should do a buccal swab (inside the cheeks with q-tip)...no needles...and plenty of DNA for the test, you could even do it yourself while she slept...
...but back on topic....
As far as Victoria's husband, I think I agree with Steven that it is highly likely that he is carrying delta F508 and another very mild mutant allele, especially given his medical history. Okok is right, that Shawn's genetic background or differences in environment could make him more susceptible to illness than his dad. It is also possible to have CF and have a vas deferens:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pnas.org/cgi/content/full/104/23/9816
">http://www.pnas.org/cgi/content/full/104/23/9816
</a>
It is important for your husband's health that he be properly diagnosed if he does have CF. I understand that facing this is difficult, but it would be much better if he were to be properly treated, so that he could provide for your family in the long term. I would suggest that the quickest way to diagnose Shawn is to have your husband tested for the full panel of CF mutations, otherwise waiting for Shawn's sweat test should give you the answer.
As far as the evolutionary history of Shawn's mutation, a spontaneous mutation is a possibility, though not a very likely one, however the CF locus is very large, increasing the probability...but okok's notion about an embryonic genetic mosaic, while biologically possible, is very very very unlikely. If Shawn was a mosaic, it's not clear what his genetic testing would reveal anyway, I would not even bother thinking about this. And while we're on the subject of far-fetched possibilities, it's also formally possible that Shawn's dad, isn't Shawn's biological dad, in which case, all bets would be off...and there's always divine intervention...but anyway, that's all ridiculousness.
Get your husband tested! and I hope Shawn's feeling better!
