Vol. 18: Fall, 2000
Consumer Issues in Genetics
Difficulties in the Diagnosis of Genetic Disorders
Editor’s Note: The following experience of this patient and her child underscores the limitations of current genetic diagnostics. As many practitioners already know, the results of genetic testing do not always provide a clear diagnosis or indicate a specific course of therapy. The frustration and stress borne by patients presenting with multiple indications of a genetic disorder require that professionals employ not only medical expertise in determining the nature of the disorder, but also significant support and empathy in helping the patient cope physically and emotionally with the day-to-day challenges of the condition -regardless of its origin.
I am a 34-year-old wife and mother. My son, Nick, was born on October 31, 1994 by normal vaginal delivery - although induced because of IGR (inter-uterine growth restriction). Nicholas weighed 3 pounds, 10.5 ounces. He was in NICU from the time he was born and finally got to come home from the NICU the week of Thanksgiving (on oxygen).
When I first found out I was pregnant, I felt something was wrong with our baby. But everything seemed normal, and after a few months those feelings went away. I figured it was just overactive hormones! Finally, at eight and a half months, I convinced my doctors that there really was something wrong. I was very small for being so far along; some people at work didn’t even know I was pregnant. The baby wasn’t moving much anymore either. More ultrasounds were done at the local hospital. It was obvious something was wrong, but nobody would tell us anything. Later that evening, my doctor called me and ordered me down to the University of Colorado Hospital in Denver immediately! Many ultrasounds were done and I spent hours lying there, staring at monitors and trying to see if our baby was okay. They also said my amniotic fluid was low and that I had a two-vessel umbilical cord instead of the normal three-vessel cord. I was in the hospital for two weeks before labor was induced and Nick was born.
Although irregularities in Nick’s physiology and development were detected by ultrasound, and were immediately apparent at birth, a clear diagnosis was not forthcoming. During his first year, Nick had two hernia and undescended testicle operations; he was hospitalized for pneumonia when he was two. In the past four years, I’ve lost count of the number of doctors and specialists we have seen as we searched for a diagnosis of Nick's condition: at least seven in person, two or three others by mail.The rigors of trying to determine the cause of Nick’s disorder so that he could be treated appropriately, and the stress of the diagnostic runaround, were hard on our family. Most stressful was when we were told Nick was Trisomy 18 (this was done without verifying the diagnosis with a blood test). Nick's life expectancy at that time was two weeks. We were told a few days after that diagnosis that it was not correct. He was seen by a geneticist at birth, and about every three months thereafter. He was nine months old before a diagnosis of Cornelia de Lange syndrome (CdLS) was made. It was confirmed in 1996, but in 1998 was "un-confirmed." We are working with Dr. Jackson Laird in Colorado on getting a firm diagnosis. At least we have been able to rule some syndromes out. It’s also been comforting to confirm that Nick is generally healthy (no heart problems, etc.), though developmentally delayed.
The general outcome of our experience has been useful, if trying. The most difficult period was the "roller coaster" of our emotions when we were wrongly told Nick only had two weeks to live. Happily, he is now a healthy, happy child, although we have a few concerns with skeletal development, craniosynostosis and swallowing. Although we have no developmental prognosis, his life expectancy is optimistic.For medical professionals and other families facing issues regarding genetics and the diagnosis of unknown disorders, our experience may offer some insight. When Nick was first born, and we knew there was SOMETHING genetic going on, I expected the doctors to look at blood test results and tell me what my son’s diagnosis was exactly. Patients need to be aware that the doctors may NOT have a diagnosis, or it may take a while to find one. Parents and family members involved in the situation need to know that there is so much that is still unknown about genetics, and that a diagnosis may not be very easy.
Contributed by Ginger Dodge
The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Regional Genetic Services Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131
Consumer Issues in Genetics
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