Jake hasn't been to New York yet, we just fedexed his blood.  They are itching to see him, but to fly a family of five is not cheap!    We were only told that three mutations is not common unless two of them are on the same allele (sp).  Robert (hubby) has two mutations on the same allele, intron 2 and exon 4.  I have my two mutations on opposing alleles.  So it would be like looking at a peanut butter sandwich face open.  My husband has the peanut butter and jelly on one slice of the bread and I have it on both face open slices of the bread.  The peanut butter is the same brand (exon 4) but the jelly is different, he has strawberry and I have grape (intron 2 vs exon 7).  That's the way I understood it to be.

Yes Jake would get sick but not often.  When he would get sick I would ask St. Patrick to pray for him.  I did all of the things moms do when their kids get sick... motrin, cool washcloths, pedialyte, etc.  I found out very early on that Tylenol has absolutely no effect on him.  He has to have Motrin to bring a fever down.  When he gets a fever it's usually a big one. 

Mostly the upper respiratory stuff used to (and still does) cling on way too long, like a month or longer.  He has craved salt from six months on.  He used to gum pickles, and refused to eat anything without ketchup (including eggs eeeewwww) after about 12 mos. old.  That was pretty much a phase though.  I should add that he nursed (only before falling asleep) until just before he turned three (like 2 years 10 or 11 mos.) because his pediatrician told me the longer I nursed him the less likely he was to develop asthma.  He had breathing problems when he was born and was rushed to the NICU.  I didn't want to take any chances.

He always has dehydrated easily though.  He would always start to look drowsy and he slept a whole lot and was difficult to wake.  We thought it was some kind of hypoglycemia originally and couldn't put a finger on it, but a small amount of coca cola or sugary drink would usually bring him about.

As for your questions about me...

I have been mildly symptomatic at times in my life, such as I loose too much hair at the temples shortly after I give birth (2 mos. later or so), but by the sixth month it grows back.  I would always throw up about tests in high school or college (from the stress) and then feel like I needed to sleep for days.  I developed normally though, but didn't get my first period until I was 14, which by most standards is late.  I did have irregular periods in college but it was attributed to stress.  I had two of them a month.  I was put on birth control pills for three months to clear it up, and it worked.  After I had Jake I started having two periods again, and have had two ever since.  I am still nursing Savannah so I haven't gotten my period yet but I'm willing to bet it will be irregular again.  NY thought that wasn't enough reason to warrant treatment.  Dr. Perelman here thinks there might be another reason for my levels being so wacky.  He said he has patients with levels much lower than mine that are very symptomatic (shaving face etc).  I do take Vitamin B Super Complex religiously.  Every single day.  It is supposed to reduce stress levels in normal people.  I originally took it for stress on the job before I ever heard about CAH.  I took it when I was pregnant with Jake, I took it when I breastfed him, I took it when I was pregnant with Savannah, and I'm taking it now while I'm nursing her.  Their doctors and mine all said it was fine because it contained a high amount of folic acid as well as other B vitamins for energy and stress reduction.  I think there's a connection, but I've been told "no connection" by both NY, and Phoenix.  I still think they're missing something, but what do I know... no PHD so no one will listen to me.  If only someone would attempt to check it out.  My husband has always noticed a big difference when I forgot a pill here or there.  It also has always made me wonder if that's why Savannah was born with so little virilization.  Prader 2 with a normal clitoris.  Maybe you could ask Dr. Lee why no one has ever thought of checking into it?  Just a thought.  Thanks!

Adina