Hello jessiecaroler08,
Welcome to the world of CF. It is a blessing you have the confirmation that you and your husband are CFTR carriers even before your precious child is born as that struggle to even be diagnosed is off the table. Amen. So as to whether or not your baby will be a carrier or afflicted with CF is all in a roll of the genetic dice. You are playing the genetic lottery and you just might be a winner......I am one of the L206W people you are looking for. There are about a dozen of us here. I found some of the others by searching this site for the word "L206W" and then privately emailed some others to talk. I do NOT speak for any of the others, just for myself. The literature out there seems to group L206W CFers into a "safer & older" category of those with CF, as many appear to be older when diagnosed and that means they have lived longer to reach that diagnosis, however, I am not one of them. I was diagnosed at age 6 months based on my 2 siblings already having been diagnosed with CF. So I am the exception and not the rule. I have found most with L206W are diagnosed much later in their lives and have a more normal/stable course. By that I mean L206W seems to confer an older age when first diagnosed and FINALLY having an answer to why they have been plagued all their lives with various GI & pulmonary symptoms yet no CF diagnosis.
I will throw this out there: Does your husband have any Canadian relatives who might have started out in Quebec?? I ask as MANY in the CF Registry have a French Canadian connection. So that is a starting point to ask of your husband. The answer could be NO, or a surprising YES, and if YES, well, his genetic mutation has roots in Canada & France.
It's way too early to discuss which meds work for me as you are not yet at that point yet and each person is different. Your baby will be started on the typical cocktail most CF patients are started on as infants, not on the hard core stuff I take for resistant bugs. As with many CFers, I have significant hearing loss due to aggressive use of aminoglycosides. While they do help in the CF fight, this class of drugs is known to either wipe out your hearing or your kidneys (ototoxic and nephrotoxic), so be wary of this when your child requires these drugs but don't panic and outright prohibit them as they ARE helpful against Pseudomonas. Your baby might be diagnosed with CF based on acquiring one CF gene from each parent, but the GOLD STANDARD for this diagnosis is the Sweat Test, so you should then you should be referred to your local CF accredited center. GO! Get thee hence! Write down all your questions and bring them. Start reading and asking, but don't be terrified. CF has made incredible leaps in treatment and longevity so you should expect your child to grow up, marry, have a career and give you grandchildren. It's all possible with proper support and management. Prayer helps too! Let live your life on your fears. We L206W's are out there and I am living a life of contented happiness, despite CF. I also must ad that my journey with CF is faith based, and without God, I'd not be the well, rounded person I am. I have buried both siblings and CF has popped up in the next generation, like the gift that keeps on giving..........Email me. I'll listen. GoryLori
