Are You A Diagnosed CAH Patient? Can You Help?

[louisev]

The support structure for those who are seeking help to get tested, diagnosed, and receive appropriate treatment for CAH is weak and shaky. One of the major sources for peer support for CAH, congenitaladrenalhyperplasia.org, is completely 21-hydroxylase deficiency dependent, and what this means for adults with non-classical (i.e. non-life-threatening or hidden symptoms that were never caught) milder forms of CAH are not appropriately tested, and these women (most of them, since males very rarely find out) are missed in the diagnostic process. Some, when diagnosed (like me) were told that their conditions were too mild for steroid therapy, by doctors who utterly misunderstand the nature of the disease.

If you are a patient with CAH, particularly if you have a good knowledge and understanding of your own treatment, your symptoms, and your life experience in living with CAH, i would urge you to visit congenitaladrenalhyperplasia.org and share your experiences.

The areas that are most needed for feedback and information are:

* Helping patients understand what tests to ask for;
* Knowing when your endocrinologist or general practitioner is misinformed;
* Finding an endocrinologist
* Encouraging diagnosed patients to try other steroids when dexamethasone is being prescribed or when Cushingoid symptoms cause an interruption in treatment
* Questioning doctors who withdraw steroid therapy
* How to tell PCOS from CAH
* Infant genital surgery - if, when, why, particularly sharing your own infant genital surgery experience - positive or negative (I have met few with a positive story)

The issues CAH sufferers (and parents of newborn patients) face is a still-ignorant medical community who believes that unless their patient looks like the bearded lady at the circus, virilization and adrenal insufficiency are not treatable conditions because they are TOO MILD.

Although there are enzyme deficiencies which in severe chromosomal disorders lead to death and very overt symptoms, the 'milder' symptoms of hypotension, hypertension, exhaustion, weakness, depression, anxiety and infertility are not minor, and they too, should be treated.

Something to consider if you have some time and some knowledge and experience to share. No registration required.