Hi Adina,

I am always blown away as to how genetics can get so confusing. Did the people in NY tell you how this genetic puzzle works out? I'm not sure if the lessor of two mutations presenting is a rule or just what should happen. I wonder what or how they explain when they find 3 mutations.

I'm interested only because Jackson had an intron 2 exon 4 mutation. I had a exon 4 mutation (SV). We still have to do my hubbys  DNA and I'm interested in finding out what it shows.

The whole genetics thing really interests me but since I have no background  in this field I get "lost" easily.

So, no one in NY ever saw a case like this? I'm sure that Jake has been sick in the past. Obviously he did fine. I know that they can't explain it but how could it be possible? I hate mysterys! How did he handle his illnesses? Did he get very very sick or did he recup easily?

I hope you don't mind my asking so many questions. I think that there is still lots we need to learn and finding out about cases like this might help figure stuff out. Are they doing anymore testing or follow up or research, here or in NY?

As far as your CAH, why did NY say that you didn't need  treatment? Is it because you have been asymptomatic your whole life? Your body may have just adjusted to the stress and you can survive on your own because of this.

I can't believe how complicated it all gets. If I get a chance I'll email Dr. Lee, a geneticist that I saw. He was very knowledgeable and told me to email him with any questions. I'm going to ask him about the 3 mutations puzzle and which one would dominate.  Maybe I'll post a question on the board. I'm sure Carole might know something.

Thanks for your story,

Sandra