Choosing Life ... by Chavah Jacobs
This article originally appeared in the Jewish Family magazine, Mishpacha, and includes extensive quotes from Victoria Miller, Executive Director. It also tells the story of Beth - one of our founding mothers - and her son Avshalom.
This article has been reprinted with the express written permission of Mishpacha Magazine, and originally appeared in Mishpacha Magazine September 27, 2006. To view this article in .pdf format, please visit Mishpacha Magazine.
The opinions expressed in the following article are those of the author, and do not necessarily reflect the views of the Trisomy 18 Foundation.
At this time, when the world stands between the writing and the sealing, the Jewish people are praying for life with every Amidah, begging that Hashem, "seal us in the Book of Life." The value of every life is immeasurable, but sometimes we lose sight of this, especially when we are confronted with the very real trauma of birth defects.
Unfortunately, nothing makes people appreciate life more than death or the specter of death. For some parents, this specter appears at the moment it’s least expected: the moment of birth … The baby, just born, is small. Maybe he or she is blue and not breathing. Maybe the head is abnormally small or the forehead is sloping. Maybe the ears are low-set. Maybe the fists are clenched. Maybe the baby has extra fingers or toes. Maybe the baby’s legs are curved like the legs of an old-fashioned rocking chair, or maybe the baby has a clubfoot. Maybe the baby has a cleft lip or palate. Examinations may reveal heart defects, deafness, blindness, or a host of other serious internal problems. Blood samples are taken. When the results come, the parents hear the heartbreaking diagnosis: “Your baby has Trisomy 18” (Edwards Syndrome) or “Your baby has Trisomy 13” (Patau Syndrome).
AVSHALOM CHAIM'S STORY
Beth, who lives in Tzfas, gave birth seven weeks early, to a Trisomy 18 baby: “Our son was born at 6:00 p.m. on Shabbos. He was rushed to NICU [a neonatal intensive care unit]. My husband went with him. Due to complications from labor, I was put under general anesthetics so that my obstetrician could perform surgery on me. By the time I came out of anesthesia, an hour later, our son had passed away.
“While still expecting, we had discovered that our baby had Trisomy 18. I began researching this condition. Reading the prognosis for Trisomy 18 children, I cried. ‘Oh, for a Down syndrome child!’ was my thought.
The survival rate for Edwards Syndrome is very low. About half the babies die in utero. Of live-born infants, only half survive to two months, and only five to ten percent survive their first year of life.
“At this point, I had a long talk with our rabbi about the traditions concerning the loss of infants. We needed to know what Jewish law required of us in case of death. Our rabbi emphasized again and again that when a baby doesn’t survive more than thirty days after birth, everything except the burial itself is tradition, not law. He also told us that it’s traditional to perform a circumcision, but this is not mandatory.
“‘And the king trembled, and he went up to the chamber over the gateway, and he wept. And thus he said as he was going: “My son, Avshalom! My son, my son, Avshalom! If only I could have died instead of you! Avshalom, my son, my son! (Shmuel II, 19:1)”’ These were the words my husband kept thinking during the hour that he was with our dear son, as our baby struggled to breathe. Our rabbi told us
that we could give him a name at the grave, though the grave was to be unmarked. We named him Avshalom Chaim. Although we had no obligation to mourn, since the Rema allows for being strict in taking on any mourning practices, I lit a seven-day candle. And I do a taanis dibur, a “speaking fast,” on my baby’s yahrtzeit. Our faith was never shaken, but the pain of the loss still surfaces at times. Faith is not a lack of pain, and we accept what we have been given.
“I feel in myself now that I’ve become more attuned to Down syndrome children. I enjoy being around these children, and think they’re the most wonderful children in the world. They’re just so sweet, so special, and it seems to me such a miracle that they’re alive. There are several high-functioning Down syndrome children in my neighborhood. After Avshalom Chaim’s death, one of them, a neighbor’s little girl, started coming around to our apartment more often. I guess she sensed something that made her feel more welcome.
“During my experience, I connected to other mothers around the world who were in the same situation as I was. I found that across all the different faiths, every single one of them expressed the exact same sentiment: these children have very special souls, very lofty souls, and they don’t need to be here in this world. They’re born too perfect to have to be here.”
Most people have heard of Trisomy 21, more commonly called Down syndrome. With Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome), the same problem occurs, but in a different location. To understand, one must begin at the simplest level.
FACT 1: DNA is the genetic material that stores all the instructions necessary
for the body to function normally.
FACT 2: A sequence of DNA that contains the complete instructions on how to create a certain type of cell is called a gene. (See diagram 1.)
FACT 3: Genes are further packaged in a special type of “storage box” called a chromosome. Each chromosome contains one whole molecule of DNA. (See diagram 2.)
FACT 4: Normally, every human being has 46 chromosomes occurring as 23 pairs, half from his father and half from his mother.
FACT 5: It’s possible to photograph chromosomes. After being stained, chromosomes can be seen as banded strings, under a microscope which magnifies them by 1,000 times. A photo is then taken through the microscope. This photograph is then
cut up and rearranged by lining the chromosomes up into corresponding pairs. The resultant picture is called a karyotype. (See diagram 3.)
FACT 6: The 23 pairs of chromosomes are labeled: 1 through 22, X, and Y. Chromosomes 1 through 22 are autosomal chromosomes. X and Y are the chromosomes which determine gender (XX=female, XY=male).
FACT 7: Cells, along with the chromosomes inside them, replicate through either mitosis or meiosis. Mitosis creates two exact replicas of the parent cell, while meiosis creates four daughter cells which normally contain 23 chromosomes each.
FACT 8: Sometimes, during meiosis a problem occurs in the division and separation of the cell. This can lead (among thousands of other possible anomalies) to one daughter cell having 22 chromosomes, while another has 24.
FACT 9: If one of these anomalous daughter cells is used in the formation of a new baby, then the child will have either fewer or more than the usual number of chromosomes.
FACT 10: Autosomal trisomy means that there are 47 autosomal chromosomes, instead of the usual 46. In Trisomy 18, there are three eighteenth chromosomes instead of the usual pair. In Trisomy 13, there are three thirteenth chromosomes. In Trisomy 21, there are three twenty-first chromosomes.
INCOMPATIBLE WITH LIFE
What causes trisomies to occur? Why does an extra chromosome have such devastating results? What cure is possible? Victoria Miller, founder and executive director of the Trisomy 18 Foundation, Inc., provides some answers. She wants to change the perception that all babies born with a trisomy are incompatible with life. Additionally, her foundation helps support research towards a cure. What kind of cure would be possible? “Trisomy 18 is mainly caused by meiotic aberrations. If researchers can discover how to reduce meiotic aberrations, this would prevent Trisomy 18 from occurring in the first place.
“This is the same approach that was taken with spina bifida and neural tube disorders. Researchers discovered that folic acid taken by women in their childbearing years lowers the prevalence rate. Interestingly enough, folic acid may also have some effect on chromosomal disorders, for some women. We’re looking into that and other ways to lower the prevalence rate.”
What about the babies who already have Trisomy 18? “That’s the second aspect of our research: looking into how to ameliorate the effects of extra gene dosage. Within the eighteenth chromosome there are critical genes and non-critical genes. The critical genes are the ones which are ‘heard’ [manifested] in the body. Researchers are trying to find out how to ‘silence’ or ‘intervene’ to change the behavior of that extra genetic material.”
Would this intervention take place before or after birth? “The science of gene silencing is very much in its infancy; it’s not clear whether it would be applied in utero or after birth. Since Trisomy 18 is a developmental disorder, the earlier the intervention the better. Cognitive, or brain, development is particularly rapid in the first three years of life. If we could find a way of intervening during these years, we could significantly alter the potential of these children.
“Trisomy 18 babies are born with many symptoms that are associated with premature babies. They’re born small like premature babies, and have similar medical problems such as central apnea [when the part of the brain that controls breathing doesn’t maintain breathing properly]. Normal babies who are born prematurely can outgrow apnea, and some Trisomy 18 babies also outgrow apnea. But most Trisomy 18 babies who die within the first thirty days of life die of central apnea, that is, their immature brains ‘forget’ the impulse to breathe. Medical interventions to treat central apnea exist, but the application of these interventions depends on the ethics of the attending physician or hospital, and also the desires of the parents.
“Many Trisomy 18 babies exhibit symptoms which medicine can treat. It isn’t understood well by the medical community whether intervening or not is in the best interest of the child. Parents need to be empowered with data and information so they can make informed decisions about what is an appropriate level of intervention for their child. When trying to help parents understand the diagnosis, primary care physicians often generalize, but each child’s phenotype is unique.”
What is a phenotype?
“A phenotype is how the genes express themselves in each individual. You and I, as women, have the same karyotype; we’re both 46 XX. All women have the same karyotype but there’s great variation. In the same way, there’s also a great variation among those with the karyotype of 47 XX or 47 XY. A karyotype isn’t destiny; it’s potential, and there’s great variability within that potential.
“Trisomy 18 is not a one-sizefits-all diagnosis, and certainly not a prognosis. It shouldn’t automatically be considered a condition which is incompatible with life. A fetus that is truly incapable of living will not develop past the first trimester. A baby with a Trisomy 1 or Trisomy 9, for example, is truly incompatible
with life. These chromosomes carry such a large number of critical genes that their extra gene dosage confuses the body to the degree that the basic functions of life do not form in the first trimester. In these cases, the baby is usually miscarried before the end of the first trimester.”
Which trisomies produce a viable baby?
“There are five chromosomes that when tripled can produce a viable baby, although all these children would have impairments: X, Y, 21, 18, and 13. These chromosomes contain the least amount of genetic material and so have the best levels of survivability. From one perspective, these children genetically have a lot more going right than going wrong. In the late gestational period, something happens to the weaker Trisomy 18 babies: Fifty percent of babies carried to term will be stillborn. This is the same statistic for Down syndrome babies. On average, the stronger babies are the ones who are born alive. “However, most of the extant scientific literature about trisomy disorders is based on evidence taken from limited case studies, on just one baby or surviving child, or from tissue samples from babies who were stillborn or miscarried. The science of Trisomy 18 is based on looking biologically at samples taken from these weaker, less viable babies. Since the science is not based on larger samples from the entire range of Trisomy 18 babies, the medical world tends to emphasize only the lethality of the condition.”
Does your foundation try to educate the medical world about Trisomy 18?
“Yes. Besides our research goals, we also have a goal of setting up advisory boards for a broad range of medical personnel who come into contact with Trisomy 18 babies, such as genetic counselors, obstetricians, perinatologists, neonatologists, and nurses in these fields. These are the people working on the frontline with parents who have a Trisomy 18 baby. We want to work closely in partnership with them to develop patient and physician educational materials. We want to help raise physicians’ awareness of how they can most help their patients.
“I’m a big believer in the hospice system, and don’t think it is right to fight the dying process. At the same time, I don’t think an extra chromosome is killing these babies. Too many babies are dying due to the consequences of untreated complications. I don’t think that all Trisomy 18 babies are good candidates for maximum medical interventions, such as a baby with a large number of malformations, but at the end of the day, decisions about these babies need to be family-centered, and taken on a case-by-case basis. Again, Trisomy 18 is not a one-size-fits-all diagnosis. Every child is unique.”
INCIDENCE OF AUTOSOMAL TRISOMIES
According to MedlinePlus, a service of the United States National Library of Medicine, Trisomy 18 occurs in one out of every 3,000 live births (and affects girls three times as often as boys), and Trisomy 13 occurs in one out of every 5,000 live births. This is in comparison to Down syndrome which occurs in one out of every 660 live births. As mentioned, survival rates for Trisomy 18 and 13 are low. It is estimated that as many as one in four early miscarriages involve a trisomic fetus, and that one in twentyfive stillbirths are babies with a trisomy disorder. Including all the trisomies (including those of X and Y), the prevalence rate might be as high as one in every 300 live births. Science cannot tell us why trisomies happen; only Hashem knows. Though the risk of having a trisomy baby increases with age, the majority of trisomy babies are born to parents in their twenties, since this age group has the highest birthrate.
An excerpt from an essay by Barbara Farlow, of Toronto, Canada, whose baby daughter, Annie, was born with Trisomy 13:
WHEN WHAT SEEMS BROKEN IS PERFECT
The graph is still taped to the inside of my kitchen cupboard, pencil on a string dangling down beside it. It depicts the progression of my newborn daughter’s weight, most days showing a moderate increase and thus reflects a thriving child. It ends abruptly at eighty days. Annie was born full term, crying. As the syndrome goes, she was mildly afflicted. She needed a very small amount of oxygen and had
hypoglycemia. Annie could not take all of her nutrition orally and so she had an NG (nasal gastric) tube, which was a tube that went in through her nose down into her stomach. I became skilled at its reinsertion, every three days. We fed her expressed mother’s milk. Somehow, we dealt with all of the issues. We knew that with time, Annie would take more feedings orally and her need for oxygen would lessen, and likely be eliminated completely. We were aware that the first year would be rough. Everyone pitched in. Our twelve-year-old son took over the lawn maintenance and his older sisters took on Annie’s developmental progress, bought “mind stimulating” music and ordered her a “Bumbo seat” [a seat designed to help a baby sit upright as soon as she has head control] to help develop strength. The whole family came together in ways that I never dreamed possible. We discovered how true our friends and family were, by their support and encouragement. Somehow, the homework got done and the gang made it to their normal extracurricular activities.
At age seventy-five days, Annie smiled at us for the first time. Even now, a year later, the memory of that first and only smile causes me to cry. Annie experienced respiratory distress at age eighty days and was transferred by ambulance to a children’s hospital. The physicians told us she had pneumonia. Our beloved baby died less than twenty-four hours later.
There are two ironies to this story. The first is that we thought we had a choice of life for Annie but the reality is that we did not. The medical records, which we instinctively felt compelled to obtain and have had reviewed, reveal no signs of pneumonia. An effective “Do not resuscitate” was ordered without our knowledge or consent. The final computerized medication report from the intensive care of an excellent hospital is inexplicably missing.
During her eighty days, our little Annie taught us our greatest lessons in life. Through her life, we experienced the deepest sorrow and the most intense love. She taught us the true meaning and purpose of life and we are forever changed as a family. Our children have learned that if they are ever in need, their family will love them, protect them, and do anything to support them, just like we did for Annie. They developed an incredible empathy for the disabled and the vulnerable.
The second and ultimate irony is that this little girl who seemed so broken, flawed, and seemingly without purpose or value, was in fact, perfect after all.
The stories of Avshalom Chaim and Annie are just two among thousands. Some of these
babies live for hours, some for days, some for months, and some for years. There was a case of one woman with Trisomy 18 who lived for thirty-six years. Life and death are in Hashem’s hands. The most important thing to remember is that however long these babies live, their lives are valuable. They impact those around them with a strength belied by their seemingly defective exterior. These babies teach others how to be more loving, more caring, more compassionate, more understanding, and more giving. They teach others how to emulate Hashem.