Nineteen months ago. we were blessed with the birth of our first child. I had an uneventful pregnancy with no complications. After all ultrasounds showed a perfectly healthy baby, I was induced a week after my due date.
Upon completion of the newborn screening, my daughter was diagnosed with Congenital Adrenal Hyperplasia (CAH), a genetic defect of the adrenal glands. Our lives were turned upside down. We quickly learned the severity of the disease when we were transferred to the nearest Children’s Hospital about an hour away. We spent 5 (five) days in NICU and another few days on the regular pediatric floor before we were sent home with 3 (three) different RXs, careful instructions, and a whole lot of worry.
With CAH, my daughter does not produce the stress hormone cortisol which is necessary for life. Her body is also salt wasting. She takes hydrocortisone 3x a day and Florinef 1x a day. As an infant she required more meds and we also added salt into her diet, 3000mg sodium daily. She currently does not take extra salt as she gets it from table food now, but she continues to take medicine daily, and will for the rest of her life.
This disease affects so much, growth, fertility, weight, height, bone density. If she becomes ill her meds must be doubled or tripled. If she is vomiting and unable to keep her meds down, an injection of Solu-Cortef is required as well as a trip to the hospital. I’ve learned so much in a year and a half, but I wouldn’t trade her for anything.