Thank you so much for answering my question about trisomy 13. I finally understand. We were tested for our chromosomes for a translocation, and both parents were found to be normal. But what you said has me sort of worried — is there anything else we should test for? With something like this that is so hereditary I can not believe that we are okay and that it was just a chance thing. Please help if you have time. Thank you very much!
Love, Melissa – Mother to: Quinten Gabriel 3-21-97 to 3-22-97
Dr. Greene’s Answer:
Melissa, quite a lot has happened since I wrote you last week. On Wednesday, I drove about an hour and a half to Santa Rosa, California to be present when my sister had a baby. She had had a dream pregnancy, but the baby was in a breech position. A cesarean section was scheduled for 7:45 Wednesday morning, and I was able to schedule to be there — as her brother, not her pediatrician.
As I was driving, Melissa, I remembered your sorrow. I hoped that another child would be able to have you as a mother. I reflected on what a miracle it is whenever a healthy baby is born. Pregnancy and gestation are so complex. Human life is so fragile and strong and beautiful. What a privilege to see a baby come into the world.
When I arrived at the hospital, three generations of Greene’s were gathered, tingling with excitement at the magic that was about to happen. We filled the waiting room. My sister and her husband had decided on Brandon Alan if he were a boy, and Brooke Michelle if she were a girl.
When the time came, I went into the operating room with my sister (along with her husband and parents). My job was the video camera, to record memories of one of life’s greatest moments.
Through the lens, I saw her perfect legs and bottom first. “It’s a Brooke Michelle, and she’s beautiful!” I announced. “Congratulations!!!”
Then the obstetrician cautioned, “She has a little cleft lip.” I saw my father’s face fall, and felt a chill in my own heart. Suddenly the moment didn’t seem perfect. I knew that modern cleft lip repair has spectacular results, but it felt as if a bubble had burst.
I rushed to the warming bed where the pediatrician was giving baby Brooke Michelle some oxygen. Was this some kind of nightmare? It looked as if she had trisomy 13!
Arrangements were made to transport Brooke to a university medical center. My sister (as is the standard practice when babies are transported) was left behind, a hollow loneliness replacing a lifetime of hopes and dreams.
As a side note, this practice of separating sick babies from their mothers is wrong. I can understand why insurance companies say that co-transporting the mothers “is not a covered benefit,” but my goal is to overturn this accepted barbarism. In my sister’s case, with much effort we were able to get her transferred an interminable day later. But back to more immediate concerns…
Within hours, the diagnosis was confirmed — trisomy 13. Dreams of her first tentative steps, her first spoken “Mama,” her playing happily in a park, her entire future, all vanished. This was a nightmare from which we would not wake up.
Less than a week ago, I wrote about a mom rocking her baby, knowing that he would die. Today I was in the rocking chair, holding my precious niece. She sucked on my little finger in rhythm with our rocking, cuddling in close. It was a moment that seemed at once endless and slipping away all too fast. The fullness of love and sorrow suffused my heart, and once again I knew that I would never be the same.
Looking at Brooke’s misshapen face, I recalled that all babies’ faces looked like hers early in development. It’s just that most continue to grow and change, and hers didn’t.
My children were introduced to Brooke that first evening, one at a time. Each one’s genuine response was, “She’s beautiful!” I love how they could see her preciousness and not be distracted by her looking different from other babies.
I drove back to see my sister later that first night, and along with everything else, I could see a searching guilt in her eyes. What had she done to make this happen? Was it something she had eaten? A virus she had? Was it the time that she had fainted?
No. No. No. Trisomy 13 is an extra copy of the 13th chromosome that slips in at the moment when the sperm and egg join. Nothing that happens later can change that unalterable fact. Most embryos with trisomy 13 do not survive to be born. Most who are born have mothers, like my sister, who took exquisite care of themselves — not who did something wrong.
Melissa, I am thrilled that your chromosome tests came back normal. This indicates that Quinten’s translocation began with him, a spontaneous event at conception. I do recommend meeting with a geneticist to go over together as much as is known about your family history. The geneticist should be able to give you the risk of recurrence for your specific situation. In all likelihood, the risk of having another baby with trisomy 13 will be extremely low. No other pre-conception testing is available, or necessary. After conception, you can know for certain by 16 weeks, using a combination of ultrasound, CVS, and/or amniocentesis.
When I wrote you last week, I wanted to say something about how trisomy 13 children live on after they die in the way that they change those who love them — but I didn’t want to sound trite, or minimize your loss. Today, though, I’m not afraid to say it. Brooke Michelle and Quinten Gabriel will have a legacy that will ripple through generations to come. Those precious, brief lives have changed us with their searing intensity. I have always loved my sister, but today I love her with a fierceness and tenderness that aches sweetly in my marrow. I feel joined to my brother-in-law as never before. The borders of my heart have been stretched a little wider, to take in more of the beauty and tragedy that surrounds us all. None of us will ever be the same.
Let Quinten Gabriel’s life deepen your capacity for joy and for pain. Let it open you and connect you and make you willing to risk. And thank you, Melissa, for the uncanny way that you and Quinten Gabriel helped prepare me and my family for our little treasure.
N.B. A special fund has been set up in Brooke Michelle’s memory. Contributions can be made to the Brooke Michelle Fund for the Prevention of Birth Defects. This charity will be administered by the University of California San Francisco and will help fund medical research. Checks should be made out to: UC Regents–Brooke Michelle Fund. Mail should be addressed to the Brooke Michelle Fund, c/o Dr. Karin Vargervik, University of California San Francisco, 521 Parnassus Avenue, San Francisco, CA 94143-0442.
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