Hi Jennifer,

This exact same thing happened to me. I have 4 boys and  my youngest two have CAH. When my 3rd son was born (1st with CAH),  he didn’t have any problems. I brought him home and all was fine until I got a phone message from the doctor from the nursery in the hospital that I needed to call right away.   My son’s pediatrician also called and said that I needed to bring him in right away because of an abnormal screen for CAH.     I called newborn screen and the nurse told me that maybe it would clear up since it seemed to only be slightly higher than the cutoff. I believed her and didn’t worry too much.   After the second test the ped called the ped endo on call because the electrolytes were all wrong.  Turns out that when they do a heel prick for the electrolytes it hemolizes the blood and gives false results.  The ped endo told us we could wait until the weekend.  Here in TX we have the newborn screen done before we leave the hospital and then at two weeks.  Well, we had the second newborn screen and many 17ohps done in between.   At about 3 weeks old the endo wanted to see my son.  He had been gaining weight, eating, sleeping and doing everything my other kids did.   They did an ACTH and it came back confirming CAH.  They diagnosed him with SWCAH. 

I had done so much research and talked to many parents about how their son’s were diagnosed...if there was a crisis...if they gained or lost weight.... I was secretly hoping that he didn’t have CAH but I knew from some of the tests results that he possibly did.   Anyway, from this mb I came across Dr. New’s name and called her right up.  Before I knew it, I had my son’s blood sent to her lab, along with mine and my husbands.  Ann Carlson, the genetics counselor, at that time, called me and told me that genetically he was not a SW but a SV.  I was so happy that I had somehow made it better for him.   I made an appointment with Dr. New and flew out to NY. It was just the baby, who was 3 months old, and myself.  I’ll never forget it because it was right after Sept. 11th and I hate to fly.  I remember there only being about 11-15 people on the flight.  My husband new better than to talk me out of going.  When Dr. New took one look at my son she said he was cushingoid.  She asked if we could stay and we did.  We stayed in NY for 2 1/2 weeks. During that time they found that he didn’t need the florinef.  I was ecstatic!!!!! I came back to Houston and told the endo here that they were wrong. He didn’t have SWCAH and he didn’t need the florinef.   He was off of it for a while and then the endo here insisted that he be put on a low dose ( 1/2 pill every other day).  To this day though I argue with them about the florinef.  The endo here feels that SV’s live on the edge of dehydration.  Now a little bit of florinef can help keep the cortef down so I agreed for a while.  At our last appointment, knowing that his labs were good...I asked to try him off of the florinef again for a time.  They agreed but kind of said that this way it’ll prove to me that he needs it. We’ll see I guess. 

Now what have I learned over the last almost 4 years.   The title of SW and SV really doesn’t matter. What really matters is how they express it.   The genotype (what the genes say) and phenotype (how you express it) don’t always match.  I went on to have another baby. He is now a beautiful 15 month old. He also has SVCAH. Same genetic mutations as my 3rd son.  He however has a harder time with the renin.  He does take florinef and probably will for some time.   He expresses it differently than my other son.   So, to wrap up my long winded post..... I think it’s great that you found out genetically what kind of CAH your son has but what I think will be most important will be how he expresses it.  Only time and different situations will give you some insight as to how he does with his CAH. 

I know you have probably read some of my other posts but both of my boys seem to, so far, be doing well.  My 3 1/2 year old caught that nasty stomach bug and was throwing up like crazy with fever etc... This was all while not taking the florinef.  We followed the endo’s advice for doubling cortef etc...did the phenadoz for the nausea and throwing up and he did great.  My friend’s son...10 yrs old..no CAH...ended up in the hospital with the same bug and dehydration.  So go figure.

Sandra