Ella’s Story – starting again….. from the beginning: Part Three

……Only Ben gave me any consolation. He went home and did what any parent would do. He Googled it. When I think about how little I knew about Down Syndrome when Ella was born, fear seems like the most logical reaction. He listed the symptoms: Brushfield spots, Palmer Crease, flattened bridge, button nose. She had them all.

And while he tried to keep hope and tell me that it all may be a coincidence, I knew. 

Some cry a gut-wrenching cry, many weep for hours on end, but I have, my whole life been conditioned to be strong and, whether it be right or wrong, keep my feelings to myself and be the voice of reason. When my family fell apart as a child, I kept calm and carried so on the third day, when my doctor finally told me that he had had the same thoughts independently, I kept steady. I asked without wavering what made him think she might have Down Syndrome. He didn’t know-maybe the eyes. I could tell this was as hard a moment for him as it was for me. Ella was his first patient to have Down Syndrome and throughout the delivery he just kept saying that she was a healthy beautiful baby girl. 

The thing about a small town is that everything is personal and the guy who fixes your sink isn’t just your plumber, but your neighbour, and the arms who help your baby into the world are not just those of your doctor, but of your friend and I often wonder what that night must have been like for him. Did he think about it? Did it keep him up at night? Did he tell his wife? How was he going to break the news to me that he too, thought that there might be a chance that Ella had Down Syndrome and if I hadn’t said anything, would he have?

But there it was. A referral to a Genetic Specialist at Alberta Children’s Hospital.

Ben’s parents and my mom accompanied us on our first outing with Ella. She cried for most of the hour and half drive to the city as I sat next to her in the back seat cheek to cheek and I told her it was going to be okay. It had to be okay.

The doctor welcomed us into an exam room and began to get a bit of our family medical history – no history of genetic disorders, no toxic exposure, overall, healthy parents with no apparent signs of disease. The doctor, in her gentle way, said that usually, after physically examining a child, she could say 90% yes they had Down Syndrome or 90% no, they didn’t. In our case, she could not commit either way. While Ella had many of the physical signs, she had very good tone and was very alert. As a result of her uncertainty, she requisitioned for a chromosome count.

I think throughout the whole process, this was the hardest moment for me. I knew, I knew that if she could not tell me no, then it was yes but she would not say it. I cried silently, tears streaming down my face as we finished off the meeting and as they took blood from my perfectly content baby girl. The tears came as we ate lunch and drove home. The tears came and they didn’t stop because I knew and yet, I seemed to be the only one.

Finally, after what seemed like an eternity, on June 23rd, when Ella was just 2 weeks old, we received the call, confirming that Ella had 47 chromosomes instead of the normal 46.