Tay Sachs: One Family's Story
Goldberg, Doris
one family's story Doris Goldberg It was evident as soon as Irwin opened the door that there was something seriously wrong. He had given up smoking and seldom took an alcoholic drink; but now he...
...Again, testing was indicated...
...The parents, and sometimes the grandparents, spelled each other in walking with her and crooning to her...
...but now he held a cigarette in one hand and a drink in the other...
...At such times, it was a question whether the soothing motion of being carried outweighed the distress of being touched...
...She died that afternoon, seventeen months and four days old...
...At the proper time she rolled over in her crib, but only once...
...At times it seemed cruel to thrust interminable conferences regarding architectural planning and decisions about furniture and color schemes on a young mother who was already occupied with children, a household, and the discomforts of pregnancy...
...The light, silky hair, characteristic of Tay-Sachs babies, framed finely-chiseled features...
...In the winter, I remember James Russell Lowell's "The First Snowfall": "I thought of a mound in sweet Auburn where a little headstone stood...
...On two Sundays in the spring of 1976, testing became available to the many who sought it...
...However, when the second child passed his fourth birthday, the couple knew that there would be another baby...
...At about the time of her first birthday, her pediatrician agreed to send her for testing to a nearby university hospital...
...After Bobbi's death, Paula and Irwin, having been told that their daughter's illness had not been genetic, started another baby...
...Saturday, April 27, 1968...
...With rare insight, Irwin timed the construction of the house so that Paula was busy with it during all the months of her pregnancy...
...This time there was a firm diagnosis of Tay-Sachs disease...
...Thus, Paula, who had once believed herself to be without any ability to grasp the most simple concepts of science, learned everything there was to know about the killer of her babies...
...There followed an eerie repetition of Bobbi's agony...
...She became increasingly lethargic and unresponsive...
...She was dry-eyed, but the expression on her face made it clear that this baby too was to be swept away by a devastating disease...
...There the young parents were not given any conclusive answer...
...She could not bear to be touched...
...They took Bobbi to a children's "home" administered by a remarkable couple, parents of five retarded children...
...and I think of all loved, lost babies, and of Paula...
...Paula was sitting in the family room, with their baby in her arms...
...In a short time, it became obvious that she was suffering from whatever it was that had killed Bobbi...
...With incredible stoicism and self-control, she described the disease and its course, quietly and with composure naming Amy and Bobbi and Debbie and Tommy and Andy and Danny—without any indication that she was the mother of any of these tragic children...
...Then she began to slip...
...One of the saddest of sights was Bobbi's noiseless crying—the flowing of tears, the little pink mouth open in a cry without sound...
...Still, she found an answer: "So that I may act to prevent this agony from coming to others...
...But she appeared to be healthy, aside from a puzzling, involuntary, rapid flickering of the eyes back and forth...
...They were told that Tay-Sachs disease had been considered because they were Jews, but that it had been ruled out because of the absence of a characteristic cherry-red spot behind the eye, that probably what appeared to be a severe retardation was due to cerebral palsy caused by a birth injury, that the only "solution" was to place the child in an institution and to have another baby...
...Tay-Sachs babies suffer from migraine headaches...
...But this pregnancy was particularly uncomfortable, and Paula had forebodings that she feared to put into words...
...For seven years, with Irwin's unfailing encouragement, she battled the ignorance, the apathy, and even the hostility of those in influential positions...
...The pansy-colored eyes became sightless...
...On many nights she slept only until two or three o'clock in the morning, then woke crying piteously...
...The young couple built a house with five bedrooms, which they hoped to fill with healthy children...
...and only once she lifted herself to hands and knees...
...She died on Friday, May 28, 1965, at the age of twenty-nine months and thirteen days...
...It was as if all had dreaded that putting the fears into words might give them reality...
...The grandmother noticed...
...The air was filled with bird-song and the promise of spring...
...and had very obviously regressed...
...The baby was a girl— Bobbi...
...She spoke to men's and women's organizations, to medical students, to parents and potential parents, to groups of doctors...
...after awhile, even the small amount that she had been consuming was rejected...
...The March of Dimes sent her two thousand miles away to an international conference of genetic experts, from whom she learned much...
...She became so proficient that she was called on to speak to groups which encompassed all degrees of scientific knowledge—from the completely ignorant to the most sophisticated...
...Meanwhile, she could no longer assimilate food...
...how the flakes were folding it gently...
...But there was a conspiracy of silence, unbroken until Bobbi was nine months old Doris Goldberg is a freelance writer of poetry and mysteries...
...Her mother and grandmother designed and sewed little kimono-like sacs in which she could be dressed with a minimum of handling...
...after two more months, the parents agreed that the two older children were being denied a normal childhood because of Bobbi's need for twenty-four hour care...
...Her children are my grandchildren...
...They built another house...
...And I think of how much she has done, in response to her own suffering, to help spare others the agonies of Tay-Sachs disease...
...Evoking a smile from Bobbi was a great triumph...
...Paula is my daughter...
...By the winter of 1975-1976 she had enlisted a team of more than two hundred medical and lay volunteers...
...If Paula ever cried out, "Why me...
...On that morning Paula said to her mother, "If you and Daddy want to see Amy again, come over soon...
...but this preoccupation served to push aside fears and to shorten the long months...
...Amy, like Bobbi, was inordinately distressed by sudden or loud noises...
...Paula and Irwin had wanted a household of children, but somehow, after the arrival of two healthy, lively babies, the third pregnancy was delayed...
...For five or six months she appeared to develop normally...
...no one heard her...
...Slowly and painfully she awakened the sleeping comprehension of her community...
...She developed a tolerance for sedatives, even in adult dosages...
...Within a month of their moving in, Amy was born...
...Her birth was difficult, and was attended by some anxiety...
...Bobbi was now blind...
...The parents knew...
...At about this time in a Tay-Sachs baby's life, all bodily functions degenerate rapidly...
...She was a beautiful child, with blue eyes, reddish-blond hair, and delicately translucent skin...
Vol. 3 • December 1977 • No. 2
