Trisomy-18 – A Personal Story

Please pardon the break from the usual professional topics while I share a part of me in a weekend off-topic article. This just happens to be on my mind right now.

When we heard that my daughter and her husband were expecting their first baby, we were overjoyed. I could flash back to a mental image of her as a child standing in her room “teaching” from a blackboard to her little brother and a classroom of dolls and stuffed animals lined up on her bed beside him. A hamster was auditing the course from her dresser. The class size was rather small but it was not a large room. I always knew that she would be either a teacher, a mother or both.

Things progressed with her pregnancy and the baby went from the early tadpole stage through being big enough for the doctor to hear a heartbeat. Things were looking normal at the time, but something was already going terribly wrong. Our joy melted into anxiety as an ultrasound revealed a possible abnormality in the development of one chamber in the heart, so further tests were ordered. The amniocentesis revealed the truth…the abnormality was due to a genetic mix-up at conception. It was nobody’s fault. There was no medical reason. It was just one of those things that can happen. They told me it was Trisomy-18, a condition where there are three chromosomes at position #18 rather than just the usual two. This condition also known as Edwards Syndrome is relatively unknown, unlike its cousin Trisomy-21, or Down Syndrome. The T-18 children fall into a wide spectrum of disability. Some are extremely fragile while others thrive. Some children walk while others are confined to wheelchairs. It is difficult for medical professionals to predict how the extra chromosome will impact any individual child from the genetic diagnosis alone. All that could be known for sure was that there were markers indicating a flaw in the heart.

I remember the phone call from her as clearly as if it were yesterday. I was at a client site in New Jersey and had my cell phone at the ready in anticipation of her call. When I heard her voice I knew that the worst was true. I walked out of the building with the phone still to my ear and found an isolated part of the parking garage where I could talk and no one would notice the tears in my eyes. As she and I talked, it became clear that they had decided to carry the baby to term. I always loved my son-in-law and knew when I first met him that he was a keeper, but now I fully realized the depth of his character and the dedication they both had for life and each other. This was a rough time, but their faith and love held them together and made them strong. They knew that there were other options open to them, but I can remember her words, “God gave me this baby and it is up to Him to take it back…it’s not up to me.” I would have been proud of her regardless of her decision, but I was in awe of her courage. I’m not sure I could have handled it.

I was actually in the delivery room during the birth because my daughter insisted. T-18 babies sometimes survive for several years or only a few minutes. She wanted me to be able to hold my new granddaughter even if she were only to live for a short while. I was moved beyond words. My only thought was that this gift was something I could never repay and certainly did not deserve. I told everyone that she must have found a way to forgive me for all my failings as a parent. Everyone knew that the prognosis was not good, but hope was alive and some who had forgotten how to pray remembered on this day. But it was not to be. The tiny heart that had beat so strongly for nine months and one week stopped that day.

Rachael was a very special being even though she never grew to speak or to laugh. She touched more lives than some people who muddle through a whole lifetime. She inspired everyone to reflect on the true meaning of life and to dedicate themselves anew to some positive endeavor in her memory. She changed my life forever and made me a better person. It may be difficult for others to understand, but that day was a turning point for me. Everything before Rachael was just going through the motions and everything after Rachael had new meaning.

I have been a staunch supporter of the Trisomy 18 Foundation and their mission of “support, advocacy and research” into this condition:

“The mission of the Trisomy 18 Foundation is to improve the lives of families who receive a Trisomy 18 diagnosis for their child through national leadership in research, education and support, and advocacy. We have a vibrant online community of families supporting each other and a growing list of educational, research and legislative advocacy initiatives.”

Charitable giving in the United States has actually increased slightly over the past year in spite of the weak economy. Compassion seems to be a built-in human characteristic that helps us to make sacrifices to help others, but smaller organizations without the big advertising budgets are still struggling. This is not a solicitation for donations, but I believe that the organization and what it stands for will touch you. This blog post will fade into the archives, but I plan to maintain a link to the Foundation on my website and remind you from time to time that you can help people in need.

As long as there is life there is not an end to the story. There is a remaining chapter in my personal story that should be added: Rachael now has a baby sister, Nicole, who is a bright-eyed smiley-faced munchkin with energy that words cannot describe. Nicole will not have a big sister to play with, fight with and grow into lifelong best friends, but she has an extra portion of love simply because she is also a message that life is good. Hope is alive. We are truly blessed.