Noah's condition information

I know most people wont read this but I'm sharing it for those who are interested in this rare genetic disorder. My little boy will be fine with medical treatment for life but if this had gone undetected it could have caused him his life. It's hard to swallow the reality of it but I'm so grateful that it was caught early on and that he is doing fine. We give him 3 different medication 6 times a day and have extra stronger doses in case of emergencies. I am petrified of having to deal with an emergency situation, I don't want to screw up and endanger his life further. For now I'm only taking it one day at a time and pray that I never have to worry about things getting too out of control.

I'm just going to copy & paste from this website to give you the general info.


Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia (CAH)?
Congenital (con-JEN-ih-tuhl) adrenal (uh-DREEN-uhl) hyperplasia (HY-per-PLAYzhee-uh), also called CAH, is a group of genetic disorders in which the two adrenal glands do not work properly. Children inherit
one gene that causes this disorder from each of their parents. The adrenal glands, located on top of each kidney, make hormones that are essential for body functions.
People with CAH lack one of the enzymes needed for proper function of the adrenal glands. (An enzyme is a protein that causes a chemical change in the body.) Without the enzyme, the adrenal glands may produce too little of the hormones cortisol and/or aldosterone and too much androgen. CAH can be severe (classic) or mild (nonclassic).

What are the different types of CAH?
There are two types of CAH—classic, which can be life threatening, and non-classic, a milder form of the disorder. Noah has Classic CAH.

Classic CAH, usually first found in infancy or early childhood, is the most severe type of CAH. In one form of classic CAH, called “salt-wasting” (meaning the body has trouble keeping the right amount of salt in the blood), the adrenal glands do not make enough cortisol and aldosterone. If not found and treated, classic CAH can cause shock, coma, and death. In another form of classic CAH, called “non-salt wasting,” the enzyme shortage is less severe. The adrenal glands make enough aldosterone but not enough cortisol.

Growth: Although children with CAH grow too rapidly, they may finish growth  prematurely, so that adult height is shorter than average. Balancing medical treatment to maintain appropriate blood hormone levels is often complicated in CAH. Untreated or inadequately treated children grow rapidly and may not reach their height potential, but on the other hand, those treated with excessive medication doses suffer growth retardation. Since over-zealous medical treatment is a major cause of poor growth, it is important to treat CAH children with the lowest dose effective in maintaining adrenocortical hormones in a reasonable range. Optimal levels of these hormones will change with age and sex. Although the topic of growth inhibition by excessive treatment has been studied in infants and young children, there has been no careful study of whether less stringent control at puberty is effective in promoting maximal growth. There is still only very scant information about experimental treatment regimens and how they alter adult height among CAH patients. (this portion is from this website, written by Noah's Endocrinologist Phyllis W. Speiser, M.D.)

Signs and Symptoms
In many cases, female infants are diagnosed at birth because they have ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus).
A male infant with classic CAH usually appears normal at birth, although he may have an enlarged penis. After infancy, boys with classic CAH grow rapidly and show signs of early puberty. If infants are not diagnosed at birth, several weeks later they may show weight loss, dehydration, diarrhea, and heart
problems. They also may vomit frequently.

Treatment
The goals of treatment are to ensure proper hormone levels and promote normal growth and sexual development. Patients with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery, psychology, and genetics. People with classic CAH need medicines called glucocorticoids to replace the cortisol their bodies can’t take.
People with classic CAH, especially those with the salt-wasting form, also need medicines called mineralocorticoids. Newborns also may need sodium chloride (salt) supplements. Surgery can correct ambiguous genitalia in girls. Experts recommend that surgery be performed when the infant is 2 to 6 months of age.

Nonclassic CAH
Unlike classic CAH, nonclassic CAH is mild and not life threatening. Signs and symptoms might not appear until childhood or adulthood.

Signs and Symptoms
Signs and symptoms in both males and females include:
• Early development of armpit and pubic hair
• Rapid growth during childhood
• Early or severe acne
• Infertility or decreased fertility
Adolescent girls and adult women also may have:
• Masculine characteristics such as facial hair and a deep voice
• Infrequent or absent menstrual periods

Treatment
Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids, but might not need life-long treatment.

What does the future hold for people with CAH?
With proper care, people with either type of CAH can live long and healthy lives. In the meantime, researchers continue to explore better ways to diagnose and treat this condition.