Most babies with salt wasting CAH would not live pass 6 weeks with CAH - most die at 2 weeks.  So if he does have salt wasting CAH - it is a miracle that he is alive (my son was 5+ weeks and was lossing weight... very weak, sleeping too much...and yes he did gain at first but then was lossing.... again CAH is very tricky!!).  CAH can vary from mild to severe.... and I am guessing my son must have been lucky and SOMEWHAT on the mild side.

It cost over $600 and takes at least 2 weeks to run  the genetic DNA testing for CAH - and maybe they can only defect salt wasting and non-salting CAH and by the way he could have one of the other types of CAH (beta 3 or beta 11) but a simple chem 8 test (test the blood chemistry for sugars and salts) has to very cheap.  Or test the sugar level with a diabetic home testing kit from the drug store - and you know instantly.  Hmmmm.... which one would I do first??   And why not monitor the blood pressure and oxygen levels in the blood? That does seem like it would cost much and would be instant results.

I also forgot to mention - simple virilizing form of CAH (which is like the classical salt wasting but not as severe - it causes the baby girls like a boy but they have the internal female organs).  There are so many different forms of CAH. Salt wasting is most fatal - but doesn’t mean the other forms (milder) should be ignored and not as fatal or problematic as the child grows older.  The John Hopkins manual on CAH is very good and is linked on the CARES web page. (CARES web site is at the bottom of my message).

 Just because your first child does not have CAH - does not mean your second child does not.   It is purely the roll of the dice.  All of children could have been born without CAH or all of them could be born with it - it is only a 25% chance.  It is NOT 100% thing that all would have it  - it is a recessive gene - so only a 1 in 4 chance.  And doesn’t mean if you have 4 children - then one will have it for sure (again - the roll of the dice).   

Non-classical CAH - information can be found on CARES web page.  The executive director has a daughter with non-salt wasting form of CAH.  Non-salt wasting form may not be as fatal.  They can have growth problems (grow too fast but then as adults are very short because their bones fuse too fast).  They can go into puberty too soon (as at age 4 or 5 - pubic hair, etc) and acne (very bad acne - pimples). The hair can be balding at the temples - all of this is because of the imbalance in cortisol and hormones.  Not enough cortisol (stress hormones from the adrenal glands) and too much male hormones.  Females - also get some facial hair.  If your daughter has non-classical CAH is not treated - to you want this for her? And infertility? And poor growth?  I think I would get her tested - if it was my child. I would want the best quality of life for my children.  I would not want them to be sick and possiblity die.  Children can die from CAH - if it is not treated (less likely with the non-salt wasting but could happen). 

Has your pediatric doctor EVER seen a CAH child before? Your pediatric doctor isn’t even testing for sugar and salts or looking at the blood pressure.... just wait and see?    I hope you don’t wait too long.  Your doctor should have referred you to a pediatric endrocrinologist (and one with experience in CAH - not just one that has seen diabetic children - ask the doctor - have you ever seen a CAH child and how many???? - and make sure that you ask this of the pediatric endocrinologis too). And why not do the chem 8 and  cortisol challenge test (8 am - 17 OHP blood test to start with would be nice to do if you won’t do the cortisol challenge)? And then the genetic testing - which the blood needs to be sent to Dr. Maria New in New York City - Cornell University.  By the way - the hormonal or 17-OHP tests need to be run at a pediatric endrocrinology lab because the adult levels and pediatric levels are very different.  The Science Endo Lab in California is one of the only labs in the US that really knows how to do the 17-OHP tests right.  I live in the Washingtonn DC area and the blood had to sent there for testing for my children - which also was a delay in diagnosis for us. 

HERE IS THE CARES web page:

http://www.caresfoundation.org/

CARES Foundation, Inc.
P.O. Box 264
Short Hills, NJ 07078

Kelly R. Leight, Executive Director
1-973-912-3895 (in New Jersey)
1-866-227-3737 (toll free out-of-state)
or email: CARES Foundation, Inc.