Hello Out There

[mumblesusc]

Hello to all of you...what a great site. I am Michelle a 29 year old lesbian mother of a 3 year old girl with salt wasting CAH. Her and her brother are the center of my world. I would love to meet people...so glad to see a reachout through this board. Nice to meet all of you!!!

[Glenn]

Welcome aboard!

Glenn

[Giner]

Welcome Michelle,
You will find that BLO is a great website. I have found it to be very helpful. I have salt wasting CAH also. If you have any questions please send me a personal message.

Again Welcome,
Giner

[Janet]

Filled with real experts, be sure to post with questions about your daughter, and you'll receive real, honest answers. We're all here to help each other, and to learn.

[mumblesusc]

Thanks for the warm welcome from all of you...I just can't say how good it feels to be "home." Due to things going on in my life, I got "out of the loop" on new developments, news, conferences, etc. I didn't realize how much I have missed those connections. Thanks again to all of you for being willing to share your experiences and lives, to me that is so much more valuable than any advice any doctor, book, or specialist can give. I truly appreciate that support and help.

Michelle

[Girlyboy]

Sorry to pry, but what is salt wasting CAH? And why does it involve wasting salt? I never heard of that b4.

[mumblesusc]

In CAH, the child is born with overgrown adrenal glands. The adrenal glands of babies with CAH are unable to make enough cortisol, which is the principal adrenal gland hormone. In an effort to make enough cortisol, the adrenal gland enlarges, or overgrows.
The adrenal glands of persons with CAH have insufficient amounts of one of the enzymes that is needed to manufacture cortisol. The pituitary gland senses decreased cortisol output and tries to overcome it by sending signals (in the form of ACTH) to stimulate the adrenal. The adrenal glands sense this stimulation and enlarge in an effort to produce cortisol, but because a necessary enzyme is deficient, not enough cortisol is made. The body which lacks cortisol cannot mobilize sugar efficiently. Low blood sugar can cause drowsiness and coma.
Unfortunately, ACTH signals the entire adrenal gland to work harder, not just the part that makes cortisol. The faulty enzyme causes a bottleneck in the chemical assembly line that makes cortisol, resulting in a piling up of "raw products" for making the final adrenal hormones. These substances spill over into other production lines which do not use the faulty enzyme: the production lines for androgens (male hormones).
This overproduction of male hormone can affect the baby before birth. The genitals of the male infant may appear normal at birth, but the external genitals of the female baby may take on a male appearance, with enlargement of the clitoris and partial closing of the opening between the labia, or vaginal lips. However, the internal parts (uterus, fallopian tubes, and ovaries) are quite normal.
Some children with CAH are also unable to make enough aldosterone. These "salt wasters" lose large amount of salt in their urine. A large salt imbalance could cause repeated vomiting, dehydration, extreme muscle weakness, and weakness of the heart muscle. Some children are able to make small amounts of aldosterone. Salt imbalance can lead to poor growth. Salt-wasting occurs in about 75% (3out of 4) children with CAH. It is believed to be due to a more complete loss of enzyme function than in non salt-wasting CAH which occurs in 25% of cases or 1 out of 4 children with CAH.

This explaination is kind of technical, but if you want to know more www.caresfoundation.org or cahourstories.com offers some wonderful real life experiences.
Thanks for asking...if only more people would we could start to eliminate some of the fear and ignorance all of us face out there!
Michelle