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I found out during prenatal screening when I was pregnant with my second that I carry df508 so my husband was tested with a larger panel of genes and find that he carries a very rare mutation of "varying consequence'" G2069R. My son passed his newborn screen but we had genetic testing done...
I see this thread hasn't received a reply in awhile but I'll try anyhow!
My son is in the CRMS classification. He has a copy of DF508 and a mutation of "varying consequence," G1069R.
I read this entire thread (took multiple hours over multiple days).. I've Google searched and checked forums...
I just want to commiserate. My son has df508 + one of varying consequence and there are only 5 in the database with this combo so I'm also dying for more information. I can't find anyone anywhere that has his second gene. I just wish I knew more.
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