When we began our adoption journey we had no idea where it would eventually lead. We were entirely new to the international adoption process yet seasoned parents of four children. Our placing agency encouraged us to begin our home study and fill out some essential paperwork. One form had us place a checkmark beside the special needs we were willing to consider, and soon our agency called us one morning with a file for us to review.
Our daughter’s special need was listed in her file as “androgeneity” which is obviously not even a true medical word. We had photos, results from a few medical tests, and that was it. We had the file reviewed by our son’s endocrinologist even though we knew this sweet girl was our daughter. The doctor told us that she had what is known as “Disorder of Sexual Development,” an umbrella term given to sexual development disorders. This information gave us a starting point for research, and this helped us find qualified medical providers for our daughter.
Once home we took her to see our son’s endocrinologist. We loved that doctor. He was so kind to us and our new daughter. He ran a lot of blood work and we finally got a firm diagnosis. She had exactly what we believed, CAH or Congenital Adrenal Hyperplasia.
CAH causes insufficient amounts of the enzyme that converts androgen to cortisol. Her adrenal glands recognize the deficiency and in an effort to produce cortisol, which is essential to life, she produces too much androgen (a male hormone).
Cortisol is a steroid produced by the adrenal glands that our bodies need to:
(1) deal with physical and emotional stress
(2) maintain adequate energy supply and blood sugar levels
The adrenal glands are controlled by the pituitary gland. Without cortisol she could have an adrenal crisis. This crisis can cause strokes, cardiac arrest, and death if not treated immediately. Over-exposure to androgen in utero made her external genitalia appear male, often referred to as ambiguous genitalia.
“Ambiguous genitalia” is a general or blanket term used when a diagnosis is not identified and can include Congenital Adrenal Hyperplasia, Hypospadias, CAIS, PAIS, 5-ARD and possibly a few rare disorders. Many of these require genetic testing for identification, and ambiguous genitalia (or AG) is often used to list children with any type of genital deformity.
After learning more about her diagnosis, we determined that her current doctor, the one that we loved and knew for 10 years, was not the right fit for us. We found a new doctor at a facility that offers a CAH clinic. Oh, what a difference a new doctor made!
We also found one of the top surgeons who specialize in the urological reconstructive surgery she needed. He was a six-hour drive for us, but we knew how important it was for our little one to have a successful surgery as she had been struggling with urinary tract infections for months. These infections caused fevers that required us to give her extra medication and it truly is a miracle she survived living in an institution for 18 months without receiving any medication.
We drove to Indianapolis for her surgery when she was barely 2 years old. It was a very difficult surgery. Her genitalia was ambiguous yet her ultrasounds, as well as chromosome testing, proved she had ovaries, a uterus, and was definitely female, but she had only one perineal opening.
Her surgery lasted 9 ½ hours. We were the very last family in the waiting room and it was hard. Evidently her urogenital sinus (single exit from her body) joined very high up. The higher up the urogenital sinus is fused, the more difficult a successful surgery and she proved to be a unique challenge. Our surgeon had to call in another surgeon to assist, and there were even a few other surprises anatomically. Neither had ever seen an anatomy quite like our daughter’s.
Due to the amount of work they did, an epidural was necessary to control her pain and she was taken to PICU for three days following surgery. It was a very difficult and painful few days. The time we spent in the hospital actually helped with our bonding and attachment. It seemed like something finally clicked with her. She finally understood I was there for her and I was not leaving.
Her surgery was a complete success and she is completely continent. The surgeon did a fantastic job and after a couple of weeks she was back to normal. She may need a small revision surgery as she reaches puberty, but we do not have to see the surgeon again for several years.
Our daughter should be able to one-day bare children but she will need to have a Cesarean section due to the reconstruction. She will always need cortisol replacement and our struggle with this special need is finding doctors who are knowledgeable about CAH. It is imperative to find an endocrinologist who actually knows how to treat CAH. Many claim they understand CAH and treat this disorder, but we experienced a doctor who said he knew how to treat her, but she ended up over medicated, causing excessive weight gain.
CAH occurs in boys and girls and there are several strains of CAH. The most common is 21-Hydroxylase Deficiency. Our daughter sees her endocrinologist every 4 months where they check blood pressure, weight, and labs to make sure she is medicated correctly. Medication adjustments are made often and she craves salt when her medication is off. Once a year our doctor will ask for a bone age x-ray as these children have a tendency to struggle with precocious puberty if not medicated and managed properly.
If I am being honest, this need is not what we expected. If I had known everything from the beginning, I am not sure we would have pursued her. The initial diagnosis and surgery were hard and we were completely unprepared. But how could we be prepared without a real diagnosis? After we saw the right doctors and we educated ourselves, things became much easier.
I cannot imagine our lives without our precious girl. She is almost five years old and lights up our house with silly, giddy, contagious laughter. All five of her siblings think she is entirely cute and everyone she meets falls in love with her. She has everyone wrapped around her finger for sure. She is the most loving, sweet, friendly, witty child I have ever met. She is larger than life. She loves life. She loves her family. She loves God.
We have since adopted another beloved daughter with a DSD. Our newest daughter’s DSD is entirely different, but we are prepared with the right doctors. We are working hard to get a diagnosis for her and beginning treatment.
We are fighting for her because she is so worth it! We are one very blessed family!
If we could change anything we only wish we could have found our girls sooner because they bring us such great joy. They deserve the love and protection of a family.
– guest post by an anonymous mama