RobertaYou can’t just go by outward signs or symptoms because they can be cyptic or hidden - and symptoms develop very slowly over time - by the time you see them - it is been going on for awhile. You may see symptoms - some, none or all of them. It seems like you see there after it is too late.
You need to get a simple screening blood test to first check the hormone levels - testosterone and 17-OHP. But if you already know one child has non-classical CAH. Why not just get the genetic DNA testing done by Dr. Maria New. We had it done and our insurance paid for it. And there is no doubt that Dr. Maria New genetic test CAN test for classical and non-classical (some of the other forms - there may not be genetic testing), so it would at least tell you yes or no on classical and non-classical. The other forms - you would need a really good doctor to diagnosis it.
The symptoms for non-classical are as you know - too much male hormones - testosterone and 17-OHP. Slowly over time it can cause early growth of sexual hair, acne, excessive hair growth, and infertility. Some female with non-classical also become virilized or external genitalia start to become ambigous or masculinization starts... one mom told me that her three year said - I’m turning into a boy. I understand that the girls usual don’t need clitoral reduction because the cortef will reduce the enlargement with non-classical CAH. The salt wasting CAH - the skin may be darken or bronze.... like a nice tan all over and/or darken genitalia.
Important to get treatment as soon as possible because the every day is a day without treatment and fertility may be so harmed that it there is no magic wand to fix it.
Adrenal crisis is when there is an illness - fever, infections, serious injury. Normal people make more cortisol for illness. Normal person makes 4 to 10 times more for illness. The CAH kids do not .... and you need to give more.
You need to know how to get the solu-cortef injection. Don’t wait for the ER. Don’t think the ambulance will have the injection kit.
Always have the solu-cortef. Always wear the medical alert ID.
During an adrenal crisis - the kid will be like a rag doll, blood pressure will be low, heart will be trouble, oxygen levels in the blood low, the brain will swell, etc. Then coma, brain damage, heart failure and then death.
Chronic adrenal insufficiency may have some or none of these outward signs: mailaise, tiredness, weakness, dizzy, irritability, headache, weakness, diffuse abdominal pain, nausea, vomiting, anorexia and weight loss.
Some or none or all of the symptoms! Can’t go by the symptoms - get a blood test.
If the 7-year with CAH is ill - get the injection!! If she vomits once - wait 30 minutes - and double the cortef. If she is vomiting repeatly (more than twice within a hour) - give the injection.
For fever immedicately give the increased amount of cortef. Say you gave the cortef at 7 am before school... and 10 am at school she is ill with a low-grade fever - triple the cortef immediately. If it a high-grade fever - give the injection. Go to the ER for antibodics and IVs fluids for a serious infection. Colds and flu... can be very serious. Stand on top of the illness... reduce the fever, during the first few days of the illness - give extra cortef. During illness - don’t just let her sleep... she could be in a coma and die.