| On Crying And Genetics (Part One) |
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She came in with two children; a six-year-old girl and an infant boy in a stroller. Batya (not her real name), the elder of the two children, was to be assessed. At age six, she had been held back in kindergarten for a year to help her "mature." When Mrs. L. began to explain the reason for bringing her daughter, she mentioned that she seemed to have difficulties in attention and learning and that after already repeating kindergarten, the Gannenet (kindergarten teacher) recommended that she undergo a developmental neuropsychological evaluation. An assessment begins with the first phone call and the basic information the parent provides regarding the referral. In the case of children, when the parent or parents bring the child, even without speaking, they also provide important information, which is part of the evaluation. Do both parents accompany their child? How do they relate to each other? What information about their educational and intellectual skills does their expressive language say about them? Mrs. L came without her husband; she gave the impression of being well educated and articulate as well as presenting as an attractive mother in her early 30s; she was also smiling uncomfortably, which isn't unusual when someone brings a child to be assessed by a neuropsychologist, but what I remember the most about this mom was that, although she was not crying at all, her eyes were swollen and red as if from crying. I had this odd association of Leah, wife of Yaacov, our forefather's wife number one. The Bible refers to her soft, tender, reddened eyes. Rashi (the noted scholar) comments that, as Lavan's oldest daughter, she cried all the time at the prospect of having to marry Esau, Rivkah's oldest son (Genesis 29:16-17). According to the Midrash, she was crying because of the "inescapable" nature of the proscribed shidduch. At the outset, she thought she'd have no choice but to follow the societal norm, yet Hashem had different plans for her and she became Jacob's wife, not his twin brother Esau's (I am not relating to alternative primogeniture issues here). I pushed this spontaneous association aside and continued to take the anamnesis, medical history. Batya had been born by breech delivery and developmental milestones including language were delayed. I was watching Batya as her mother spoke. I noticed that Batya had blotchy skin tone, her hands seemed puffy and red, her gait seemed clumsy and unsteady and, when I touched her hands, they were ice cold even though it was warm in the room. As her mother was speaking to me, Batya was playing with some toys, which I had put out. All of a sudden she stumbled and fell. She began to cry. Her mother went over to console her but Batya continued crying. What became obvious was that though she was crying, no tears were coming out of her eyes. I had a glimmer of an idea as to why her mother could not stop crying. I began to ask some specific questions. Mrs. L. looked aghast as she answered each question, one by one. "You guessed didn't you!" she exclaimed sadly. "I'm not sure," I answered, "but has she been tested by a geneticist?" The mother started to cry and mumble. "You don't understand, 'it' shouldn't have happened. We were each married to someone else and for different reasons divorced and were given this shidduch. We married and were so happy and thrilled when Batya was born. Then the problems began, but before we understood what was happening we had another child. Then the doctors suggested that we have tests to tell if the next baby would be okay or not. We are religious, we went to our Rav, and he said try again. We did and the baby has 'it' too," she wailed. What Batya and her siblings "have" is Familial Dysautonomia (FD). What is Familial Dysautonomia (pronounced "dysauto-NO-mia")? FD is a genetic disease present at birth in male and female Jewish babies, which primarily causes dysfunction of the autonomic and sensory nervous systems. These systems control bodily functions that are often taken for granted such as: Overflow tears when we cry Breathing when there isn't enough oxygen Regulation of blood pressure and body temperatures Normal swallowing and digestion Safe responses to stress The sensory nervous system, which regulates: Protective reactions to pain Perceptions of hot and cold Taste The prognosis of the disorder depends on early detection, severity of symptoms, and the individual response to therapeutic treatment for this disorder. Supportive treatment can enhance quality of life and promote better survival. The lack of tears is the landmark symptom of FD. Specifically, children with FD have an absence of overflow tears with emotional crying. FD children are usually of normal intelligence. There has been an increased frequency of learning disabilities in FD children, however. Early intervention and aggressive therapy in areas of language and learning have been extremely successful in prevention of greater variances between non-affected peers and treatment. FD is inherited. It is estimated that one in 27 individuals of Eastern European Jewish (Ashkenazi) ancestry is a carrier of the gene for FD. All parents of children with FD are carriers of the defective recessive gene that transmits the disorder. A parent has no symptoms or warning signs of being a carrier. The first clue for most individuals that they are carriers is the birth of a child with FD. Today there are tests done by geneticists that can identify the gene (as with Tay Sachs, Cystic Fibrosis and others). In regard to Tay-Sachs Disease, another more "infamous" Jewish Genetic disorder, Rabbi Moshe Feinstein, z'tl, was asked whether or not it is advisable for a boy or girl to be screened for it, and if it is proper, at what age the test should be performed. His answer was: "... It is advisable for one preparing to be married, to have himself tested. It is also proper to publicize the fact, via newspapers and other media, that such a test is available. It is clear and certain that absolute secrecy must be maintained to prevent anyone from learning the result of such a test performed on another. The physician must not reveal these to anyone... these tests must be performed in private, and, consequently, it is not proper to schedule these test in large groups as, for example, in Yeshivas, schools, or other similar situations (Feinstein Moshe, Responsa: Even Haezer Part 4 #10, Bnei Brak, 1985.) Dor Yeshorim Organization in the USA and Israel does pre-marital (pre shidduch) screening. * Sadly, she went on to tell me that she felt so alone in her pain, as they hadn't told anyone in either family. She had siblings that were still unmarried, she explained, and was afraid to harm their shidduch prospects. I could only think of how many more red, swollen eyed mothers were in harms way. I requested that she come in with her husband to talk about these issues. Later, after we had met, I gave them the name and phone number of a Rav who is also a physician who could speak with their Rav in a common rabbinic language (see also The Schlesinger Institute, Shaare Zedek Medical Center; PO Box 3235. Jerusalem 91031. Tel:     (972) 2 655 5266 . Fax: (972) 2 655 652 3295;). The story of Biblical Leah and her "soft red swollen" eyes, teaches us that Hashem works to change what might be thought of as inevitable. In this case, it truly resonated in the words of Mrs. L. when she said: "'It' shouldn't have happened!" *(Another Halachically accepted method of avoiding this and other genetic diseases prior to birth will be discussed in the second part of this article.) For further information on FD see: http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm http://www.jewishvirtuallibrary.org/jsource/Judaism/genetic.html#5 Originally published in the Jewish Press on September 19, 2007. |
