Diagnosis: DiGeorge syndrome
(22q11.2 deletion syndrome)
By Michael’s mother
At 38-years-old, my husband and I were excited to be pregnant with our second child. Our daughter was three years old, healthy and happy. We knew from the beginning that it was boy, even though we both agreed not to find out. I had morning sickness 24 hours a day for 4½ months, but everyone told me this is the sign of a healthy pregnancy.
I had my ultrasound at 19 weeks. My husband and I were so excited. We got a little nervous when the ultrasound technician kept asking me to move, but we just assumed she was inexperienced. When she brought the senior technician in, we knew something was wrong. He never talked. He just kept looking at the heart for what seemed like forever. Then he told us to wait for the doctor. We sat in that tiny dark room for what seemed like eternity. When the doctor finally came in, he told us the baby’s aorta was not wide enough and the baby was not growing properly. He also saw cysts on the brain. He told us to get an immediate appointment for an amniocentesis. I was numb until we got to the parking lot. My husband asked if I was okay, and I burst into tears. By the time we got to the babysitter’s house to pick up our daughter, he was in tears, too.
The two weeks we waited for results after the amnio were the longest of my life. Then the call we were waiting for came. The genetic counselor told us almost all of the test results were in and everything looked good. There were two other FISH studies that had not come back yet, but we weren’t concerned. We had the best Memorial Day weekend ever. We celebrated our daughter’s birthday with friends and family and thanked God for our good fortune.
The world came crashing down the Tuesday after Memorial Day when the genetic counselor called me at work and told me the FISH study came back positive for DiGeorge Syndrome. We needed to meet with her immediately. There are 180 different symptoms associated with DiGeorge Syndrome and she told us there was no way to know what end of the spectrum our child would be at. We only knew our child had two confirmed heart defects and was not growing properly. I went home and called my OB, who told me to come in immediately. We told him we were considering termination and he agreed. He made an appointment to begin the termination process the next day, since I was almost 24 weeks pregnant.
We went home and looked at every web site we could find relating to DiGeorge Syndrome. What we found did not give us much hope. The DiGeorge mortality rate is high, and those who survive typically struggle with heart, renal, digestive, immune and psychological problems, just to name a few.
They started the induction on June 1, 2005. I delivered my son, Michael James, on June 3, 2005 at 2:59 a.m. We buried him three weeks later.
The pain never goes away. I talk to Michael every day. I have finally stopped apologizing to him, because I know he knew nothing but happiness in my womb. To bring him into this world with the pain he would have faced is unthinkable.
We are trying to have another baby. The thought of being pregnant again is exciting, terrifying and bittersweet. Testing showed I am not a carrier for DiGeorge Syndrome, but until I am handed a healthy baby, I realize there are no guarantees.