Sarah Lynn came into this world on June 26, 1985. She was perfect. I had wanted to have a girl, yet somehow was surprised when she wasn't a boy. Ruffles and bows, and pink galore; balloons and flowers all welcomed this much wanted and loved gift from above. She was named Sarah because we wanted a Biblical name for our daughter. Sarah means "Princess" in Hebrew, and to us, she most definitely was.
We loved our little girl very much. As novice parents, we went through all the usual "scary" stuff that other parents go through. "Why isn't she eating?" "What do I do with this crying child who has nothing wrong other than she won't stop crying, while in the meantime, I'm breaking into a cold sweat?" "What was that noise she just made?", and on and on. We had to become comfortable with one another and learn how to read each others signals. It didn't take long and things were going smoothly. I knew instantly what each cry meant. My perfect little world was unfolding as I had planned. Life was good.
Sarah's four month well-baby check-up was the event- the day- that would change our lives forever. We had changed Pediatricians, so I was unfamiliar with the gentle, middle-aged woman who was poking and prodding my little Princess. She came with high recommendations, and as an RN, that meant a lot; especially since the recommendation came from my sister-in-law, a fellow nurse. The exam went along as usual, but then I noticed the Dr. spend more time listening to Sarah's heart. Nurses learn quickly what actions are normal, and which are not. This behavior elicited a bit of curiosity in me, if not a tiny bit of fear. She turned and looked at me and said, "Did they mention an irregular heartbeat to you before?" "No, not ever!" "She has an irregular heartbeat. Hear, listen." She handed me the stethoscope, and with trained ears listening, I heard the abnormality she was talking about. Then she calmly told me not to worry. Many babies have murmurs and such, and they simply outgrow them. But just to be on the safe side, at her recommendation we scheduled an appointment with the cardiologist. I went home to brood over this new development. "Not to worry", right. I was a nurse...and a Mom. It's a lethal combination for worry.
A couple of weeks passed before we found ourselves sitting in the Pediatric cardiologist's office. I thought to myself how I never dreamed I would be in such a place. These kinds of things happened to other people, not me. I clung to the hope that it would be "nothing"; a little something that she'd grow out of, but with the wealth of medical knowledge I had tucked inside, it was hard not to picture the worst. We could face heart surgeries, hospitalizations, etc.. All sorts of scenarios played through my mind.
The Doctor came in. He was a gentle man, his face lined by the years of care he bore; years of telling parents the news they didn't want to hear- that something awful was happening to their precious child. Somehow he didn't seem to have become hardened by this burden he bore, yet I found myself feeling sorry for him. He performed a couple of routine tests, listened to her heart, and then explained that he wanted to get an echocardiogram of her heart. This would again take a few days wait, but he began the process of slowly preparing us for what lie ahead. He told us he believed she had Pompe's Disease, a genetic disease, but couldn't be sure until further tests were done. It never occurred to me to ask questions, or to research what the disease was. I had reached my limit of bad news, and beyond that, I don't remember anything he said.
The echocardiogram was done in a large room with windows overlooking the roof and another part of the hospital building, the same building I worked in. I think it was raining. The lights were dim as he moved the probe over her little heart, and as images flashed on the screen, he would intermittently click a button to take measurements. The whole procedure must have taken no more than 10-15 minutes. He turned the machine off and sat silently for a few seconds, then looked at us with those deep, soulful eyes that told me the news was not good. He told us she indeed had Pompe's Disease. It is an inherited, glycogen-storage disorder that is fairly rare. Both parents have to be carriers of the abnormal gene for the disease to manifest itself. The odds of a child having it are 1:4 with each pregnancy, or easier put, each baby has a 25% chance of having the disease. I remember the Doctor sitting there silently, waiting for us to process the news he had just given. I quietly asked, "Is there anything we can do for it?", as tears began to form and run down my cheeks. "No", came the answer. I nodded, more tears flowing. Still trying to find a way to escape this horrible sentence that had just been handed out, I said, "So, if this continues, she'll die?" "Yes." Another nod of acknowledgement, accompanied by more tears. With no more questions to be asked, and no more words of hope to be given, we packed up our little bundle, our Princess, and left to face a world we no longer recognized.