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.
In addition, we worried about the statement that getting tested could be seen as making. It is important to us--as it is to all relatives of people who live with disease or disability--to ensure that my nephew Ezra is not defined by his illness. We feared that by being tested so soon before our wedding, we'd be unfairly pointing a finger at Ezra and saying, "We don't want a child like you."
Ezra is a wonderful, cheerful, intelligent, personable little boy, who loves his preschool, his toys, and the family members who visit him and play with him. He is, however, fed through a tube directly into his stomach, has suffered through pneumonia several times, and at three and a half, does not yet speak more than a few sounds. He understands everything that is said to him and has developed a quasi-sign language of pantomimes to make his wishes and feelings known. FD fortunately does not affect a patient's intelligence, and Ezra is unusually perceptive. He is in physical, speech, and feeding therapy, but it is a long-term struggle for him to do that which most 3-year-olds find natural.
It is my highest hope to have children who are as sweet, intelligent, and well adjusted as Ezra. But I wish more than anything that Ezra would not have to suffer as he does, and I pray for the day that he will be able to live a life blessed with good health. In working to ensure that my own children do not have FD or other diseases, I realized I was not rejecting Ezra; rather, I was maintaining hopes and dreams that Jeff and Adena, my brother and sister-in-law, share, and that Ezra, when some day he understands these things better, will too. There is no shame--or blame--in wanting to try to prevent the perpetuation of a disease.