I am 40 years old with SWCAH. I can tell you from experience that missing doses here and there will not kill you and it’s likely you won’t even notice it for the most part, unless you are under some serious stress--mental or physical. The difference between why it’s important for kids vs adults is huge and lots of times that is forgotten, by parents and doctors alike.

You don’t mention if you are talking about some derivation of cortisone or if you mean florinef and you don’t mention your gender, but with both there are some things to consider assuming you are health otherwise.

You probably don’t want to go too long without the cortisone derivative regardless of whether it is prednisone, hydrocortisone, dexamethasone or whatever. Fact is, it keeps you alive if you hit stress. If you are not taking it somewhat regularly and hit stress, you could get really sick and possibly even die. Stress btw can come from all sorts of situations.

The cortisone derivative also keeps you from virilizing further if you are female. That is, keeps you from getting facial hair, male pattern baldness if you are genetically predisposed to it, and muscle structure changes in your body. For instance, I know several people with SVCAH who were raised female and felt they were really male and simply stopped taking the cortisone type drug and quickly transitioned physically to male in appearance. If you don’t want that to happen and you are female, it would be best to find something to keep the androgens down if you are not taking the cortisone.

With florinef, you probably have a bit more flexibility and leeway. The florinef basically keeps your blood pressure up. Not taking it can lead to light-headedness and other annoying health issues. I’ve gone months and months without it, and even now only take it sporadically. The biggest thing I see when not taking it is headaches. I do a pretty good job of making sure I gets lots of salt to compensate for the blood pressure issue.

Getting back to the prednisone (that’s what I take), may adult experience has been that most endos over-medicate you because they want to attain what their guidebooks tell them they should. If I was taking enough prednisone to have "perfect levels" in the eyes of the textbooks out there, I’d weigh about 50lbs more---been there, done that, got the t-shirt and gave it back. Kids have other issues like growth and puberty to worry about that we don’t as adults.

Watch your body, and listen to it. If you are feeling sluggish, you probably need more cortisone/florinef. On the same path, if you are feeling hypersensitive or hyper-energetic especially late at night when you should be sleeping, you may need an adjustment; that’s the testosterone screaming through your body telling you something.

I don’t know much about gene therapy to change the medication situation and frankly, I doubt it will be a reality in the foreseeable future with the current distaste for research or real science that can help people. Research like that takes decades and lots of money which the current govt. administration is against because it may harm a few fetal cells. In the meantime, you may want to spend some time researching with google natural supplements. I’m not going to recommend anything in that area because you need to find what fits you and any other health issues as well as gender issues (not assuming you having gender issues--meant this more general as in if you are male or female) you may have.

I hope this helps. Feel free to fire off an email to me if you have any other questions.

Betsy