So, with the best wishes of the doctors when Makenna was only twenty-four hours old, we headed home. I remember feeling overwhelming happiness as the four of us drove down the road as a "family." I beamed at the backseat where our two girls were sitting. Everything just seemed so right and I had this wonderful peace in my heart.
Over the next twenty-four hours we experienced the usual chaos of bringing home a baby. I was doing my best to keep up and slowly regaining some energy. Makenna was such a pleasant baby and everyone was enjoying loving on her. One afternoon when my mom and mother-in-law were insisting that I take a nap break, I was awakened by a call from the doctor. I took the call and heard the comforting voice of Dr. Jedlica revealing to me that the specialist at Wake Forest had been busy working with Makenna's samples all day. She calmly explained to me that the initial FISH (Fluorescent in situ hybridization) test did show some extra copies of a specific segment of Makenna's DNA. She said the results totally blew her away. She helped me remain calm and explained that the next step in piecing together this puzzle was being performed as we spoke. This was a "karyotype."
A karyotype would be helpful because it is the standard analysis of chromosomal material and tells us both the number and structure of the chromosomes in Makenna's make-up. "Okay," I uttered as I felt my heart drop to my toes and my stomach pushing up my throat. "So, how is that going?" She informed me that the doctors had been working on Makenna's karyotype all day long! She explained that they had been counting and recounting Makenna's cells. They were certain that Makenna had a mosaic form of trisomy 21, but they were trying to figure out just how many of her cells were effected in this way.
Dr. Jedlica told me that this process is usually much quicker because as they dig into the cell lines, many mosaic forms of genetic conditions are found to be close to a 50/50 breakdown. This would mean that the individual has two cell lines in their body--one with the expected number and structure of all 46 chromosomes, the other cell line with an unexpected number and/or structural arrangement of the chromosomes. "Okay," I uttered again.
"With Makenna, they are still busy counting because they are only finding the trisomy 21 in about 1 out of 10 of her cells," she explained. She had wanted to at least call and give me an update as to the progress of the results. She then went on to tell me that Makenna is really throwing them for a loop because in the cell line where they are seeing the extra copy of chromosome 21, the configuration is a very unique one. It's called a "robertsonian translocation." This just means that there are still three copies of chromosome 21, but the extra copy, instead of being separate as in most trisomy 21 patients, is actually attached to another chromosome.
You can see a picture of this here.
I thanked Dr.Jedlica for taking the time to call and update me. She said the final count would be in tomorrow. (We later learned the official count was 91% "normal" cell line and 9% "robertsonian translocation of two chromosome 21s") I hung up the phone and felt warm tears swelling in my eyes. A few fell down. At that moment, I was in shock. Yes, I felt sad--not for myself, but for my sweet Makenna. What did all this mean for her? I wanted her life to be nothing but wonderful. And as her mother, there was now something that might stand in my way of ensuring this fate. I called Brandon right away and told him to get home because I had some shocking news. Honestly, by the time he got home and I retold the story in his arms, I began to feel better.
I realized what a foolish thought had entered my mind. I needed to hold onto the fact that God was in control of Makenna's life. He would be the source of our strength and Makenna's JOY (which is much better than happiness anyway, right). I was not going to fail as a mother. I was determined to give Makenna everything I had--all my love and support to fill her childhood with kisses and giggles and all that is girly.
This diagnosis was not going to change that. I was still her mommy. I'd still dress her in frilly bows and paint her toes We'd blow bubbles and catch butterflies. She'd get millions of bedtime stories and bubble baths shared with her big sister Kaleigh. They'd play dress up and keep secrets. Her Daddy would still make her laugh tickling her neck with his beard wiskers and kiss all her booboos.
Life was good. We were so blessed.
