HI Marie,

My son has CAH. They type of CAH he has is called simple virilizing CAH. Meaning he is not a saltwaster but he is still in the classical range. He was diagnosed through newborn screening in TX. Here they do two screens about 2 weeks apart.

He did not start his medication until he was 30 days old and he was never near a crisis of any kind. His electrolytes were always pretty well in check but his 17ohp was high.

His first newborn screen came back saying mildly abnormal. The blood was taken from his heel two days after he was born. The 17ohp from the first screen was 59ng/ml which I would be 5900 ng/dl. The second one they did came out to 130 ng/ml or 13000 ng/dl. This was at two weeks (July 3rd) on July 13th  my pediatrician ordered another one stat because the results from the second screen were not back yet. This one came out to 5765ng/dl. So as you can see it went from 5900 to 13000 to 5765 ng/dl in a matter of a short time.

When they did the stimulation test on him on July 27th, his 17ohp at 0 minutes was 14100ng/dl (so it was a high day) then his 17ohp at 60 min went to 24000ng/dl.

They started him on florinef and cortef that day. They had diagnosed him as a SW. I started investigating SWCAH and read about the different kinds. I started to suspect that he wasn’t a SW after speaking with many parents about how their children were diagnosed and what the symptoms were. My son never lost weight, never had a problem nursing or sleeping at all. He seemed alert when awake and never threw up. So, I asked for a DNA  and the ped endo told me that there was none available. Luckily for me, I found Danny’s website and found Dr. New. I called and spoke with Ann Carlson, the genetics counselor who gave me a sort of game plan ( I was very much in shock with all of this). They did his DNA and confirmed my suspicion that he was not a SW but a SV. That was a big relief for me because I wouldn’t have to worry so much about a SW crisis but of course I would still have to worry about an adrenal crisis. (yes there are two separate things). The first of course leads to the second.

I proceeded to go NY and meet with Dr. New. She immediately noticed that Jackson was cushingoid. She admitted him and for two weeks we watched. One we wanted to see if he was a saltwaster or not (sometimes phenotype and genotype don’t match) and we also wanted to see if we could get him on the right amount of medication. He was about 4 months old.

After the two weeks and daily blood work and urine labs, they found that while off the florinef  his urine NA and his serum Na and potassium were perfect . So they concluded that he was not a saltwaster and that his phenotype and genotype did match. I felt like I was flying on the moon. I was so happy to have made it a little better for him.  Of course I was hoping for a miracle and for Jackson to have Non classic or maybe immature adrenals that would all of a sudden kick in.

He has been in very good control until his last visit. He was on 3.75 mg of cortef per day. When we had our last appt.  His 17ohp came back at 5700ng/dl. I remember that blood draw and it was one of the worst he had. I can’t even remember how many times they tried. What concerned me about this is that I went ahead and had his androstenedione and testosterone and of course his PRA checked along with the 17ohp.  All the other numbers, except for the 17ohp were perfect, right on.  My ped endo went ahead and increased his cortef to 5 mg per day.

I emailed the endo we saw in NY. One that works with Dr. New. She thought that the 17ohp had to have been wrong. She said that to have such a high 17ohp and the other so perfect was very strange.   She said that she would not use that 17ohp or not go only by that. So, I was thinking to myself. Great, my regular ped endo usually only checks his 17ohp and PRA. So, they are basing my son’s medication needs on one number that may or may not be accurate. This concerns me.

Of course, I can’t deny that he has CAH because two (yes I did two) DNA tests found the same mutations. ( I don’t take my son’s health lightly, I wanted to make sure)!  Of course with all the modifier genes in our body that we and the geneticists know nothing about can affect how each child presents his CAH.

I didn’t mean to write a book but I remember being were you are and wanting to know what the numbers were and how the kids were diagnosed. If you would like anymore information, don’t hesitate to email me.

Take Care,

Sandra