Trisomy 13: WHEN WHAT SEEMS BROKEN IS PERFECT
The graph is still taped to the inside of my kitchen cupboard, pencil on a string dangling down beside it. It depicts the progression of my newborn daughter’s weight, most days showing a moderate increase and thus reflects a thriving child. It ends abruptly at 80 days.
How can the value and purpose of a life be determined? Can these be measured by longevity, intelligence or the productive contribution of an individual to the economic base of society? Even more important, who has the right or ability to make this judgment?
My husband and I were recently faced with a very difficult situation. We are in our 40’s, educated and financially stable. We have 5 children at home and we love sports and travel. The kids do well at school, are athletic, and all are healthy as horses. Life was good to us. We were pleasantly surprised when we discovered that we were expecting a new life to love and nurture.
We first heard of our unborn daughter’s genetic condition long before she was diagnosed. It was considered a lethal condition, an extra 13th chromosome. Most babies don’t make it to birth and those that do live a few years and are severely disabled. I thought, “Well, what is the point of that life?”
When the geneticist uttered the dreaded words, “your daughter has trisomy 13” and it was a diagnosis about my baby and not someone else’s, the reality was entirely different. With the ferocity of a lioness, I wanted to love and protect this little girl, and do all that I could for her. If her existence was only to be a few more months of kicks and flutters in utero, then I wanted her to have that life for the sake of both of us. We named her Annie.
After the diagnosis, the research began. It was frantic, and went long into the night for months. We researched medical details and personal stories. We communicated with parents all over the world who had a child with this very rare condition. We discovered that the babies can live longer, but they may need a lot of medical treatment.
The most amazing discovery was that the parents continually stated that they treasured and delighted in every day of their child’s life. They knew with certainty, that the gift of that life was not theirs to keep. The children, called “survivors” were blissfully happy and progressed developmentally, albeit slowly. It became increasing clear to us, that unless the medical intervention to provide life was excessive, Annie was better off alive than dead.
We were not sure how we could do it. I was the kind of mom who usually forgot to pack a diaper bag. I would often be impatient when one of my children couldn’t master the math skills in their homework. Could I ever develop the patience for a child who may not be able to sit on her own for a year? How could we fit Annie’s care and needs into our busy schedule? We had 5 soccer teams in the summer! We were more frightened than we had ever had been in our lives. Love for Annie compelled us forward.
Annie was born full term, crying. She was mildly afflicted, as the syndrome goes. She needed a very small amount of oxygen and had hypoglycemia. Annie could not take all of her nutrition orally and so she had an NG tube (nasal gastric tube), which was a tube that went in through her nose down into her stomach. I became skilled at its reinsertion, every 3 days. We fed her expressed breast milk.
Somehow, we dealt with all of the issues. We knew that with time, Annie would take more feedings orally and her need for oxygen would lessen, and likely be eliminated completely.
We were aware that the first year would be rough. Everyone pitched in. Our 12 year old son took over the lawn maintenance and his older sisters took on Annie’s developmental progress and bought “mind stimulating” music and ordered her a “Bumbo seat” to help develop strength.
The whole family came together in ways that I never dreamed possible. We discovered how true our friends and family were by their support and encouragement. Somehow, the homework got done and the gang made it to their soccer games.
At age 75 days, Annie smiled at us for the first time. Even now, a year later, the memory of that first and only smile causes me to cry.
Annie experienced respiratory distress at age 80 days and was transferred by ambulance to the Children’s hospital. The physicians told us she had pneumonia. Our beloved baby died less than 24 hours later.
There are two ironies to this story.
The first is that we thought we had a choice of life for Annie but the reality is that we did not. The medical records, which we instinctively felt compelled to obtain and have had reviewed, reveal no signs of pneumonia. An effective “Do not resuscitate” was ordered without our knowledge or consent. The final computerized medication report from the intensive care of an excellent hospital is inexplicably missing.
The hospital issued a letter of apology stating that sometimes “communication does not occur in as clear and consistent a fashion as we would wish. For that, we are very sorry.” Recent developments in medical science can be used to diagnose and terminate certain lives but the choice to use medicine to prolong these lives doesn’t seem to be an option.
During her 80 days, our little Annie taught us our greatest lessons in life. Through her life, we experience the deepest sorrow and the most intense love. She taught us the true meaning and purpose of life and we are forever changed as a family. Our children have learned that if they are ever in need, their family will love them, protect them and do anything to support them just like we did for Annie. They developed an incredible empathy for the disabled and the vulnerable.
The ultimate irony is that this little girl who seemed so broken, flawed and seemingly without purpose or value, was in fact, perfect after all.
[by "Barbara", N Valko RN, 26Jan07]
Jeremiah Nigel Gilliam (spelling in link is incorrect, but is the correct link)