A Modern Marriage Ritual
When genetic illness hits home.
BY: Michael Kress
This is the fifth installment in an engagement-to-wedding journal.
Some months ago, I went to a hospital, had my blood drawn, and was tested for genetic diseases specific to Jews of Ashkenazi (East European) descent. Several tense weeks followed as my fiancée and I waited for and dealt with the results.
For Stephanie and myself, the issue was more tangible than it is for most couples. My 3-year-old nephew Ezra, my brother's son, was born with a little-known genetic disorder called familial dysautonomia. FD has been known to affect only Ashkenazic Jews and manifests itself in many ways: Patients cannot produce tears, cannot swallow instinctually, are prone to vomiting and pneumonia, and experience severely delayed developmental milestones, like walking and talking.
Genetic testing has become a modern marriage ritual: At some point in their relationship, couples from similar ethnic backgrounds seek to find out if they are at risk for having children with diseases stemming from endemic genetic mutations. These are particularly prevalent among Jews, long confined by tradition and preference to marrying other Jews; in Europe, this often meant marrying one's not-so-distant, yet still technically legal, relatives.
FD, like most genetic diseases, is a recessive gene, meaning both parents need to carry the gene in order to pass it on to their kids. Since my brother clearly carried the gene, I had a 50-50 chance of carrying it as well. Stephanie, being an Ashkenazi Jew without a family history of FD, had a one-in-30 chance of being a carrier. If both parents carry the gene, there is a 25% chance that their children will be born with FD.