Genetic Counseling Through Hope
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PROFESSIONAL ISSUES
Genetic Counseling Through Hope Dana Knutzen
Received: 13 April 2011 / Accepted: 16 November 2011 / Published online: 10 December 2011 # National Society of Genetic Counselors, Inc. (outside the USA) 2011
Keywords Campomelic dysplasia . Hope
Hope. It’s a word we don’t often hear associated with the term genetic counseling. The Merriam-Webster dictionary defines hope as “to cherish a desire with anticipation” (Hope, n.d.., para. 1). In an article describing her journey of being faced with a fetal anomaly, a genetic counselor expressed “hope for the future is what saves you” (Anonymous 2008). Before I started in this career, my understanding of hope was limited to hoping for acceptance to school, finding a job, and passing the board examination. Just months out of graduate school, however, my perception of hope was redefined. My first job landed me at the local Children’s Hospital where I was asked to accompany one of our geneticists to the neonatal intensive care unit to see a newborn transferred with multiple skeletal abnormalities and dysmorphic features. The geneticist felt the infant’s clinical features were consistent with campomelic dysplasia (CD). Unfortunately testing for alterations in the SOX9 gene at that time was only available on a research basis through a foreign laboratory. The infant was the first child to a young couple, and prenatal records revealed that ultrasound had failed to identify any anomalies during the pregnancy. I can remember sitting in the patient’s room as the geneticist
The views expressed are those of the author and do not reflect the official policy of the Department of the Army, the Department of Defense or the U.S. Government. D. Knutzen (*) Department of Obgyn, Madigan Healthcare System, Attn: MCHJ-CLG-A, 9040 Jackson Avenue, Tacoma, WA 98431-1100, USA e-mail: [email protected]
explained to the couple the diagnosis as well as the likelihood that their daughter would have a shortened lifespan given the severity of the disorder. Following a normal karyotype to rule out sex reversal, the couple refused any further consultations and failed to return any of my calls. In the months that followed my interaction with this family, I was haunted by a feeling of failure. Why would this couple not want to be seen in our clinic again? Weren’t we the ones who figured out why their baby looked the way she did? In my naivety, I expected the family to thank us for determining the diagnosis. Wasn’t this the ultimate job of pediatric genetics–putting all the pieces of the puzzle together to come up with a unifying explanation? We had solved the mystery! Instead, I was left feeling insecure and questioning everything I had said to the family. Had I learned anything in graduate school? Would I ever make it in this profession? Seven months later, I received a phone call from the mother. Her daughter had died recently, but she and her husband were interested in discussing recurrence risks for CD and desired genetic testing to confirm the diagnosis. Unfortunately, the cou
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