A Modern Marriage Ritual
When genetic illness hits home.
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.
Deciding to get tested when we did was not easy, because we were not sure where it would lead. We both were certain that it would not break up our relationship (though some people do take this step, it was unthinkable to us). We also are not planning to have children immediately, so the results of the tests would not affect us in the short run. We feared that only heartache and worry would come of it.
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.
We also weighed the potential heartbreak of finding out we were both carriers of FD with the sheer terror of the unknown if we postponed testing. We decided to confront our fears, hoping of course for good news but girding ourselves for bad news and its consequences. We realize that life's challenges and tragedies can, sadly, strike at any moment, and the most important thing to us is facing them together as husband and wife.
Making the decision was the first difficulty we encountered. Next was actually getting tested. Only a few months ago, there was no easy test for the FD gene. Doctors recommended testing only for people in my situation, whose siblings or other close family members were known to carry the gene. If my test came back positive, Stephanie needed to mail her blood to Israel--along with their parents' samples--where only one lab in the world performed a complicated test that relied on both generations' blood to see if that person carried the gene.
Not surprisingly, I received the news that I was a carrier of the gene for FD. The situation suddenly became more tangible--and more scary. Stephanie and her parents had to ship their blood samples to Israel. As we waited for the results, we were suddenly forced to discuss issues and face potential problems that other young couples would not have to face for years. It seemed unfair and even impossible to do: With children not yet on the horizon, how could we intelligently and honestly discuss such an unknown? We had no choice but to try.
We knew we'd still get married, but what would we do in terms of children? Adopt? Take our chances? Have our children tested in utero and terminate the pregnancy if the fetus has FD? Hope that in-vitro fertilization technology would allow doctors to screen for the disease before actual conception takes place (a possibility that will likely exist before too long)? All were viable options, yet none was what we wanted to be discussing at this joyous time in our lives, when we were otherwise focused on our dreams and expectations. When the time comes, we will love our children with all the love inside us, however they are born and whatever their health problems. But at this point, we felt a premature sadness in contemplating the decisions we might have to face later on.
After about six weeks, we found out that Stephanie is not a carrier of FD. We additionally were tested for the more well-known "Ashkenazi" diseases--Tay-Sachs and several others--and are not at risk for those either. We were obviously very relieved and thankful for the results.
In just the few months that have elapsed since this episode, researchers have isolated the gene for FD, meaning that a direct test is already available. Anyone can simply have blood drawn and quickly know if they carry the disease. It will be added to the "panel" of diseases Jews are routinely screened for. No shipping blood to Israel, no weeks of uncertainty. Soon, FD may be as well known--and screened for--as the other Jewish-specific diseases. Tay-Sachs has been almost entirely eliminated by widespread testing. Hopefully, FD will go the same way. And, of course, isolating the disease is a major step toward the eventual discovery of a cure for FD, a prospect still sadly far off.
Throughout this ordeal, one image kept popping back into my mind: Ezra's smiling face. Sweet, friendly, playful, and intelligent, I can't wait to watch him walk down the aisle at our wedding. As with any 3-year-old, who knows how he will react? He may love the spotlight and walk down beaming; he may be scared and cry. Either way, he'll steal the show. And his proud uncle and new aunt will love him for it.