Hi Matt,

Well, I guess the one good thing you should be happy about is that they found it early. He could have classical CAH or NonClassical CAH. Until the test results are back it’s hard to say. The fact that he didn’t have any problems early on (in the first two weeks) makes it look more like either Classical Simple Virilizer, like my son or the Non Classical or late onset CAH. Late Onset CAH doesn’t necessarily mean that you get it as a teen or adult it just means that the symptoms are less severe and had not been picked up right at birth.  Regardless of Classical or Non Classical, all with CAH are born with it. Unfortunately, mostly SW CAH is picked up either trhrough newborn screening or crisis. Did you son have the screening? What state do you live in? Country?

My son was diagnosed through newborn screening and began his treatment at one month old. I also thought it was horrid to think that my son would be dependent on medication for the rest of his life...but the rest of his life, God willing, will be a long time and many things may change. If not then there is treatment and they will live a "normal" life. Gosh, some kids with Asthma take more steroids than our kids and they make the stuff whereas our kids don’t. The alternative for my son might have been, considering that he has Classical Simple Virlizing CAH, that he might have started to show signs which might not have been picked up until he lost quite a bit of his height. He could have had no symptoms until he started to go through puberty early or maybe he would have been like your son and had signs of hair way too early.

By the way, CAH is an equal opportunity disorder. The only added concern for girls is that they have to deal with the virilization issue. If your son turns out to have SVCAH instead of NC CAH then you might want to consider talking to a genetic counselor before you have more kids so you can be aware of the odds, etc...

The best advice I can give you is this...your son is still the same little guy you met six months ago. This "problem" is just an added part of him. You will get used to giving him his meds and it gets sooooo much easier with time and as they get older. Thankfully, NC CAH people will rarely have a life threatening crisis. Notice that I said rarely. It can happen. SVCAH people also have less of a chance of having a crisis as compared to a SW but then again...you never know.    There are two different types of crisis, a saltwasting crisis that begins with the imbalance of electrolytes and then proceeds into a full adrenal crisis if not treated. Most SV’s and NC’s don’ t have the saltwasting part. Again, notice that I said most.  The other is just the adrenal crisis that could occur, lets say, if a SV or NC is in an accident and the body need more cortisone to deal with the stress.  You should verify all the info you get with your doctor. The explanation I just gave you is how it was explained to me. 

Lastly, try not to worry too much, (easier said than done, I know firsthand) because regardless of the diagnosis, your little guy will be able to grow up and do just about everything anyone else can do!! Who knows, he might just turn out to be the doctor that discovers the cure!!

Keep us posted..we’ll be crossing our fingers

Sandra