CAH: 11b, 1 year on

[louisev]

It's been just 13 months since I started steroid helper therapy for 11-beta hydroxylase deficiency CAH. Treatment protocols are still being studied for 11-beta, which is second-most common, which is to say, 1 out of 40,000 live births produce a case of 11-beta CAH. I have since been diagnosed with hypothyroidism, and take synthetic thyroid along with my morning dose of hydrocortisone.

What would be great for the CAH forum is to provide some primary support and information about CAH - both classical (birth-diagnosed) and non-classical (childhood or post-adolescence diagnosed) types. I am fortunate in that i belong to a yahoo group of adults who offer support, dietary advice, treatment and doctor information for those who are newly-diagnosed so that they can find their way and live with the disease.

One of the biggest issues facing 11-betas is the lack of information about stress dosing. Normals (those without an enzyme deficiency causing CAH) have an internal feedback system that controls, through the Adreno-corticotropic hormone (ACTH) system between the adrenal gland and the pituitary body, the level of cortisol released into the bloodstream. Cortisol controls and limits inflammation due to injury, and is always accompanied by a rise in 'adrenaline' (consisting of epinephrine and norepinephrine), the stress hormone. A recently-released study which has been accepted within the CAH study group at the National Institutes of Health shows that CAH patients have a marked reduction in adrenaline response to stress and injury; i.e. their adrenal glands malfunction in more than just production of cortisol. if we had normal adrenaline response, there would be little need for increasing beyond the regular daily dose of steroids. However, in all cases of CAH, the need for stress dosing has been proven.

Recently, as winter and cold and snow set in, I found myself unaccountably and seriously depressed and listless. Discussing it with other CAHers, however, I tried a minor bump in hydrocortisone dosing from 15 mg a.m. to 20 mg, and within 2 days I was feeling normal again.

Yes, winter is a stress, and does warrant incremental stress dosing. Other members of the list considered it, and those who tried bumping up their dose experienced similar relief.

If you have been diagnosed and are treated for CAH - does your doctor prescribe stress dosing for surgery, illness and - winter?