I’ve been visiting this site for the past several years as I have a 2 year old daughter with SWCAH.  I recently gave birth to a boy.  We tried to have him tested during my pregnancy with a CVS but the doctor was unable to retrieve any placenta to test.  We decided after finding out we were having a boy to just wait and test him at birth.  When he was born they ran blood work on him to test him.  His sodium levels were normal in the hospital so we really thought that he was not going to have the disorder.  We were still waiting on the newborn screening results to come back when we were released from the hospital.  When he was 5 days old, he stopped eating for me and was pooping every 10 minutes.  I took him to the pediatrician and she was not very concerned and sent me home, even though she knew our medical background.  She told me to watch him and come back the next day, as we had our 1 week checkup the next day with her.  That night, we were getting ready to go to bed and he had only taken 3 bottles that whole day.  I did not feel good about going to bed with the way he was acting.  I don’t know why, but I was not even thinking about CAH, since his sodium levels had been normal.  My husband noticed that his breathing seemed labored.  We called the nurse and she told us that we should take him to the emergency room.  On our way to the ER we called my daughter’s endo and he called down to the hospital to tell them what tests he wanted them to perform.  In the ER, they tested his potassium level and it came back extremely high, 10.7.  Normal levels are around 4.5.  Thus led them to believe that he had CAH and was treated immediately.  He also lost over 1 1/2 pounds, and he was not very big to begin with. They quickly took him to the trauma room and hooked him up to all sorts of machines and did EKG’s on him.  Once he was administered Cortef, he made a dramatic change.  He woke up and his coloring changed back to normal.  The doctor’s told us that they were amazed that he was still alive with a potassium level that high and that they had been afraid that they were going to loose him. We then spent several days in the ICU at the Children’s Hospital.  He definitely had an angel watching over him that day!  It scares me to think that we almost went to bed that night as he would not have made it through the night or the next hour for that matter.  Please, always listen to your motherly instincts.  Since I had taken him to the doctor’s that day and she said that he was fine, I thought she knew best and that I was over reacting.  Thank the Lord he is still with us today. 

The story does not end there...  We found a new pediatrician, one that was recommended by the ICU doctor.  She was concerned because he had lost so much weight, so we went for weight checks every week after being released from the hospital.  He was not gaining weight and every week was dropping lower on the growth chart.  He started at the 6% and three weeks later dropped to the 3%.  My son was seeing a different endo than my daughter has been seeing but they are still in the same practice.  He had blood work done the week after he was released from the hospital but were still waiting on the results.  Since his sodium levels had been normal, we had not been putting salt in his bottles like we had to do when my daughter was an infant.  A few weeks went by and we  stil had not heard back about his blood work and he was still not gaining weight.  We left several messages with the doctor about his blood results and she never called back.  Finally, his ped called to try to track down the results.  We  also called my daughter’s endo to let him know we were concerned that we had not heard the results.  He tracked them down for us and found out that his sodium levels were low and we needed to start putting salt in his bottles.  I was furious!  It only takes 1 day for the blood work to come back and we had his blood work done 3 weeks earlier.  My son’s doctor called us the next day and apologized, saying the his file got misplaced and that she was going to have a talk with her nurse.  We are switching him to our daughter’s endo as he is much more reliable.  We started him on the salt solution and a week later went for a weight check, which was yesterday.  He weighed 7.3 pounds last week and yesterday he weighed 8.12 pounds.  He gained over 1 1/2 pounds in one week!  The ped seems to think that because his body did not have enough salt, he was basically dehydrated for the past 3 weeks.  If we had gotten the results sooner, we would not have had these weight issues. 

We have definetly learned that as parents, we have to fight for our children.  Please do not put all your trust in the doctors.  If you feel like something is not right, go with it.  The Lord gave us instincts for a purpose so please listen to them.  We now have 2 SWCAH children and are learning more and more each day.  I almost feel like we know as much if not more than most doctors do about this disorder.  Please be a persistant as possible when it comes to your child!

Also, what good does the Newborn Screening Test do when the children usually get sick before the results get back?  My son’s results came back when we were already in the ICU!