?A Texas couple has filed a lawsuit against a New England sperm bank because their child was born with cystic fibrosis. Sharine and Brian Kretchmar of North Texas turned to the New England Cryogenic Center for help when they were unable to conceive a child on their own. Their son, Jaxon, was born in April 2010 and tested positive for cystic fibrosis within a few days. Currently 22 months old, Jaxon wears a special vest to help him breathe and takes 20 pills per day.
The news was very devastating due to the fact the sperm donor had tested negative for the disease. Since the results of genetic testing are limited to the specific mutations a lab is testing for, important markers may be missed. In the Kretchmar's case, it was especially unfortunate, as cystic fibrosis can only be passed to a child when both parents carry the mutated gene and it has been determined that Sharine is a carrier. The CTFR gene has over 1,000 known mutations and is estimated to be present in one in 25 Caucasian persons.
This is not the first time a serious disease has shown up through sperm donation. In 2009, it was determined that a donor to a San Francisco sperm bank passed a deadly heart defect to nine of the 24 children he fathered, one of whom died by age two. A similar case in Philadelphia in 2006 involved five children inheriting a rare blood disorder from a sperm donor.
The reality of the situation is no matter how carefully genetic testing is conducted, there is no guarantee of perfect health. The focus is better placed on finding a cure for genetic disease rather than trying to weed out its possibility.
