Hi Andrew’s mom,

I hope I understood wrong from your post but did your son die from an adrenal crisis? If he did, I am very sorry for your loss. This should not have happened in a  state where newborn screening is in effect. With that said though, I spoke with Carolyn Scruggs, the Texas newborn screening nurse, and she commented that sometimes the tests don’t come back fast enough.

What can we do about this, I’m not sure. Something has to be done so that those little boys that don’t have any outward signs of the disorder are caught before a crisis. I was lucky that my son was not a saltwaster and when his tests results came back he was not even close to going into a crisis. He didn’t start his meds until he was 30days old.  For a saltwaster, this would have been deadly. I’m going to be talking to Carolyn in the next few weeks as I have been asked to collect articles for a CAH newsletter they put out.  We need to come up with a solution to this deadly problem.

After finding out about my son’s diagnosis, I cried many, many days and swore that I would never have any more kids. I was very ignorant about CAH at this point. I thought that maybe I had caused this and felt very, very guilty. Even now knowing about genetics, I sometimes wonder if something I did (environment) could have affected his genes. I’ll never know!

 After I calmed down and realized that this was a manageable disorder and after talking to many, many parents I thought that I could possibly have another child. At first, I thought about invitro to "get" a baby with no CAH genes or down syndrome or any other genetic problems. I thought I could check for everything and have a "perfect" baby. Then I realized that I did have a "perfect" baby. I would not change him for anything in the world. 

With prenatal testing you can be prepared if your child has CAH. If you get your DNA and  your husbands DNA tested you will know what to look for in your baby before he/she is born. You can take Dex while pregnant until you find out if you have a girl or boy. If you have a girl with CAH you would stay on the Dex throughout your pregnancy and this would most likely take care of the virilization issue. If you have a boy or girl that does not have CAH you would stop taking Dex. If you have a boy with CAH then when he is born he could start his meds right away and prevent any SWcrisis. So, the options are there for you. Knowing now what you didn’t know then can be very empowering. You have the power to test for this condition now that you know you are a carrier. You have the power to keep your child healthy after he/she is born, now that you know about CAH.

Invitro can be done to "select" the perfect baby but it is costly and so many moral issues are brought up. As far as I’m  concerned it is a personal moral question. Something you have to decide if it is right for you and what you believe. Of course there are many doctors that do this and I believe in NY at NY Presbyterian they will send you a whole packet on this.

Good luck with your choices. It is hard especially when you have been through such a traumatic time.

Sandra