The History & Future of Spina Bifida
Spina Bifida has been around since the fall of man. Anthropologists have made numerous discoveries revealing spines with defects representative of myelomeningoceles. Because these individuals were born when little or no medical treatment was available, one would assume that most of them died as a result of their defect. However, there are a large number of artifacts from early civilizations that suggest otherwise. These sculpted figures appear to depict both children and adults with spinal defects of various shapes, locations and sizes.
Descriptions of spinal defects date back to the ancient writings of Hippocrates, Galen and others. Their writings suggest that these civilizations lacked not only an understanding of the condition itself, but any type of treatment as well. The earliest definitive description of Spina Bifida can be found in the writings of Dr. Peter van Forest, a 16th century Dutch physician. His notes describe a surgical procedure in which he removed a mass at the base of the neck, but the child subsequently died.
The first printed use of the term Spina Bifida appears in an illustration found in the textbook, Observationes Medicae, written by Dr. Nicholas Tulp in the early 1600s. Tulp is best remembered as the prominent doctor in Rembrandt’s painting, “The Anatomy Lesson of Dr. Tulp,” painted in 1632. In Observationes Medicae, Tulp describes six Spina Bifida cases. The referenced illustration depicts one of these patients, a child with a large lumbar level myelomeningocele defect. Tulp attempted a surgical repair of the defect, but the child soon died of infection.
A review of the surgical history of Spina Bifida reveals that for almost 200 years, from the early 1600s to the mid 1800s, surgeons around the world attempted various surgical treatments, but eventually concluded that Spina Bifida was untreatable. In the late 1700s, Dr. Benjamin Bell declared Spina Bifida to be “the most fatal disease to which infancy is liable; for as yet no remedy has been discovered for it… Experience shows, however, that every attempt of this kind should be avoided for hitherto the practice has uniformly proved unsuccessful. The patient has either died suddenly, or in the course of a few hours after the operation.”
Innovative doctors continued their research, developing new techniques for the treatment of Spina Bifida. These techniques most often included either draining or injecting various solutions into the sac. Though mortality rates decreased using this type of treatment, patient debilitation was significant. Then, in the middle of the nineteenth century, Dr. James Morton devised an iodine & glycerine solution for injection into the sac. News of the success of this new technique spread quickly and was used throughout Europe for the next 50 years.
Surgical techniques were not reconsidered as a plausible treatment option until the introduction of aseptic surgical techniques in the 1870s. Surgeries had previously been fatal due to septicemia. Therefore, with the advent of aseptic procedures, surgeons began discussing the possibility of performing a closure surgery that involved freeing the neural elements, returning them to the canal and closing the lesion using a multilayer (dura, fascia, muscles & skin) technique. A good example of this type of closure can be found in Charles Frazier’s textbook, “Surgery of the Spine & Spinal Cord.” Frazier was a professor of surgery in Philadelphia and became an early pioneer in neurosurgery. His repair and closure techniques would become the standard of care for the first half of the twentieth century.
Though spinal closure surgeries greatly improved survival rates, doctors were now faced with deaths caused from untreated hydrocephalus. In the 1950s, doctors began inserting needles into the soft spots of the skull to drain excessive fluid. Neurosurgeons were working on the development of a shunt, but were having limited success.
Then in 1955, a baby boy named Casey was born to a toolmaker from Connecticut. Casey had Spina Bifida and his parent’s were told that he had “water on the brain.” Dr. Holter worked day and night trying to invent a device that could save his son. He was fortunate to meet Dr. Spitz and together they developed the Spitz-Holter valve or “shunt”. Unfortunately it was not in time to save Baby Casey, but his dad’s work has helped millions since.
It was at this point that Spina Bifida really took a dramatic turn. Early mortality rates decreased rapidly, reversing the earlier 90% mortality rate to a survival rate of over 80%. But higher survival rates came at a price. The shunts that so effectively treated hydrocephalus required frequent revision. The long-term effects of impaired bladder function resulted in renal failure becoming the leading cause of death for individuals with myelomeningocele in the 1970s. So procedures for urinary diversion were developed to preserve renal function and allow children to gain social continence. Clean intermittent catheterization “all but eliminated the mortality rate associated with urological complications.”
The 70s & 80s could be considered the “dark ages” of Spina Bifida care. A debate over “quality of life” caused needless death and disability for those born with Spina Bifida, and resulted in a medical pessimism toward Spina Bifida that still lingers today.
Up until the 1960s, surgeons typically treated Spina Bifida babies on a case by case basis, opting for some to have spinal closure surgery within the first week of life, while others were delayed for up to 2 years. In 1967, a panel of doctors evaluated 522 cases of myelomeningocele born over a 7 year period (between 1955 and 1962). They concluded that there was “no place for the selection of patients for conservative treatment rather than operative treatment on the grounds of paralysis, deformity or hydrocephalus present at birth.” As a result of this study, most centers in the United Kingdom and United States adopted the practice of operating within 12 to 48 hours of birth.
But one of the doctors on the panel, Dr. John Lorber, changed his mind. He became the leading voice of pessimism, arguing for the abandonment of the practice of treating most infants with the defect in favor of treating only the most promising cases. He wrote that the “majority of children have very few or no friends; most are left without jobs, have no chance of love or marriage, and when their exhausted parents can no longer cope, they will end their days in an institution.” In his view, rejection by the world justified non-treatment and ultimately death.
In stark contrast to Lorber, Dr. Robert Zachary maintained the original position and spearheaded the other side of the debate, maintaining that “extreme disability is not synonymous with unhappiness and we are only at the beginning of finding ways of developing the capabilities of these patients….”
Based on Lorber’s views that disability equated to poor quality of life, Dr. Lorber established criteria to predict which lives would be “worth saving.” Those who did not meet his criteria were to be heavily sedated and withheld from food and antibiotics. Unfortunately, his criteria became widely adopted internationally during the 1970s and 1980s, but a vocal minority objected, refusing to implement the protocol on the grounds that it would be a denial of care. This resulted in children who survived (being granted food and medicine), but were severely disabled due to their lack of treatment and delayed spinal closure surgery. This large number of surviving patients might truly be described as having “poor quality of life” thanks to Lorber’s protocol. Unfortunately, the condition of those patients only further contributed to the already negative perspective of the medical community.
Improved bladder treatments, better shunt designs and improved neonatal care resulted in better treatment and fewer complications. Though prognoses improved, the debate continued.
The establishment of Spina Bifida Clinics, where children could receive ongoing care from multidisciplinary teams of doctors produced a generation of children who had normal intelligence and could achieve independent mobility & social continence. The disability rights movement educated the public and opened up opportunities for independent living and employment.
But all of this happened so fast, that the medical community had to scramble to catch up. “Technological change has been so rapid and so progressive, that it is virtually impossible to give a completely accurate prognosis of an infant born with meningomyelocele and hydrocephalus,” explained pediatric neurosurgeon Anthony Gallo.
This pace of change meant that many physicians were unequipped to help parents make informed decisions. Apart from the doctors directly involved in the actual care, the strong pessimism among the medical community remained. This included primary care physicians, pediatricians, obstetricians and even maternal/fetal medicine specialists. The later two presenting the condition to newly diagnosed parents as a “worst case scenario” and recommending termination.
Then in 2003, the National Institutes of Health began the “Management of Myelomeningocele Study,” or The MOMS Study. Three hospitals, Vanderbilt, CHOP & UCSF were chosen to participate in the study of 183 fetuses which were randomized, 91 for fetal repair and 92 for postnatal repair. The study took 8 years to complete. Prenatal surgery was performed between 19 and 25 weeks of pregnancy. Deliveries for both groups were performed by C-section at approximately 37 weeks of pregnancy. The infants in the postnatal surgery group had their spinal openings closed at the MOMS Center as soon as possible after delivery, usually within 48 hours. Medical information on the mothers and babies were gathered throughout the study and follow-up of their progress continued until the child reached 2-1/2 years of age. The study found that, 1) babies that underwent fetal repair of Spina Bifida were half as likely to need a ventricular shunt, 2) Chiari malformation was less common in the fetal repair group, and 3) standardized test scores for motor skills were superior in the fetal surgery group, and twice as many children were walking independently at 30 months as compared to the postnatal surgery group. Based on these outcomes, fetal repair of spina bifida is now considered a standard of care at some fetal centers.
Having encountered many misinformed parents in their pioneering work in fetal surgery, in 2004 Bruner and Tulipan wrote an editorial urging other physicians to “tell the truth about Spina Bifida.” de Jong cites that editorial in his critique of the Groningen Protocol, which permits the euthanasia of newborns with myelomeningocele in the Netherlands. According to de Jong, the Protocol is based on outdated and often false information about the condition, leading to overly pessimistic assessments in most cases.
As doctors and researchers continue to make great strides in medical and surgical interventions, the future holds great hope for those born with Spina Bifida. One recent surgical advancement has eliminated the need for a shunt, offering children with Spina Bifida a life free from the burden and worry associated with a shunt. Shunt technology has not changed since the 1950s, and unfortunately they have a high failure rate – 30% fail in the first year and almost 100% fail within 10 years. Shunt failure is a life-threatening emergency requiring surgical replacement. An innovative new surgical procedure called the ETV/CPC combines two treatments for hydrocephalus that don’t involve a shunt or hardware of any kind. The surgery creates a new pathway for the CSF and slows its flow, allowing the brain to absorb the fluid, and eliminating the need for a shunt. This is a remarkable advancement in the management of hydrocephalus. Another much more recent procedure which has a paralyzed man walking again has been said by a leading researcher to be “a bigger thing than landing a man on the moon,” and a neurosurgeon, “I have waited 40 years for something like this.”
The history of Spina Bifida is riddled with stories of triumph and cases of loss. Children and adults successfully living with Spina Bifida are often portrayed as having miraculously overcome the odds. But in reality, the odds have been misrepresented in ways that have cost countless born and unborn lives and sometimes negatively shaped the experiences of those who live with Spina Bifida. Luckily, not everyone chose to dwell on the negative. There were the parents, striving for personal progress as their child’s life and future were on the line. There were the brilliant, out-of-the-box thinkers, who made great strides in medical advancement. But we still have a long way to go when it comes to reeducating the medical community about the truth of Spina Bifida.
We owe a great of gratitude to the doctors whose ideas and efforts have touched the lives of millions of children across the globe. As a result, the great majority of children now go on to live independent and productive lives.
Spina Bifida: Management and Outcome, Özek, M. Memet, Cinalli, Giuseppe, Maixner, Wirginia (Eds.), Springer, 2008, Chapter 1: A Historical Review of the Surgical Treatment of Spina Bifida, Goodrich, James T.
The Treatment of Spina Bifida by a New Method, Morton, James; James Maclehose, Publisher to the University, Glasgow, 1877.
Living with Spina Bifida: A Historical Perspective, Pruitt, Lisa J.; Pediatrics: Official Journal of the American Academy of Pediatrics, Vol. 130 No. 2 8/1/2012, pp. 181-183
“A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele”. New England Journal of Medicine. Adzick, NS; Thom EA, Spong CY, Brock III JW, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D’Alton ME, Farmer DL (9 Feb 2011).