Case Report: Failure to diagnose genetic disorder - Fragile X
(Excerpts taken with permission from Minnesota Trial Lawyer Association’s (MTLA) “Minnesota Case Reports”)
K accompanied her daughter and her ex-husband to an office exam with the defendant pediatrician in 1992. K’s daughter had developmental delays, autistic-like characteristics, and other behaviors somewhat similar to those of K’s brother. K explained this similar behavior pattern and inquired of defendant pediatrician whether there could be a genetic cause of her daughter’s condition. K was divorced from her daughter’s father, was remarried, and was planning on having additional children. For that reason, she inquired about the possibility of a genetic linkage through her.
Defendant pediatrician intended to order tests for chromosomes, inborn errors of metabolism, and Fragile X, but for some inexplicable reason, Fragile X testing was not performed. When the other test results came back, the defendant pediatrician called the family and reported that the test results were normal. She did not explain that the Fragile X test was not done, but needed to be done. She did not reorder the Fragile X test although she had many opportunities to do so over the ensuing three years. Based on the report that the tests were normal, K assumed the test results included a negative Fragile X.
K also accompanied her former husband and daughter to a visit with a pediatric neurologist to whom they were referred by the defendant pediatrician. The pediatric neurologist advised K that if the pending test results were normal, it was extremely unlikely that K’s offspring, particularly with a different father, would suffer a genetic disability. The pediatric neurologist assumed that defendant pediatrician had ordered Fragile X testing. In 1998, K gave birth to a son with developmental difficulties similar to, though more severe than, K’s daughter. The son’s pediatrician ordered Fragile X testing, which was positive. K’s daughter was also tested and determined to be afflicted with Fragile X. K was tested and was determined to be a carrier of the genetic disorder.
Lawyers Handling Birth Injury Cases