When Your Chromosomes Dictate Your Treatment Options : The Stigma of Trisomy 13 and Trisomy 18

Why do most hospitals refuse to provide corrective surgeries and other interventions to children with Trisomy 13 and Trisomy 18? Is withholding treatment solely on the basis of chromosomes ethical?

Trisomy 13(T13) and Trisomy 18 (T18) are no longer considered lethal conditions. Yet, the medical community continues to deny lifesaving therapies to these patients. A 2018 article by Pyle, et al in the Journal of Perinatology (https://doi.org/10.1038/s41372-018-0151-6) examined the ethical basis for refusing medical and surgical treatment to children with T13 and T18. It found that most physicians still believed that T13 and T18 were universally fatal in infancy. They often viewed providing treatment to children with these genetic conditions as expensive, futile, prolonging Patient suffering, worsening caregiver burden, and wasting limited medical resources. Interestingly, none of these beliefs were proven valid when subjected to a rigorous ethical analysis. The authors concluded that medical interventions should be offered to children with T13 and T18, and parental choice must be respected in the decision making process. The authors were also unable to find any other childhood condition where the decision to treat was driven exclusively by cost.

I've had the opportunity to care for five children with T13 and T18 in the past five years. Three of them are now between four and five years old. All these children were diagnosed prenatally. Though they were born at different California hospitals, the families received similar counseling from their neonatologist at discharge ; since their child would die within weeks, they only needed to provide comfort care. There was no need to establish care with a general pediatrician or a sub specialist. Similarly, supplemental nutrition,vaccines, or other interventions were not necessary. The families who sought corrective surgery were surprised to learn that several children's hospitals in California had a stated policy of not providing surgical interventions to patients with T13 and T18, even as they operated on children with identical cardiac anomalies or other genetic syndromes.

Families began seeking pediatric care from me when their child was still alive at several months of age. The lack of early intervention, appropriate nutritional supplementation, and access to routine medical care made it all the more difficult to keep these children's health optimized. For one patient with Trisomy 18, cardiac surgery was no longer feasible as she had already developed pulmonary hypertension by the time she saw a cardiologist. During an Emergency Room visit for a treatable pneumonia, the family of the same patient was discouraged from seeking hospitalization as this would only delay the inevitable.

Physician bias affects patient health outcomes, as does institutional bias. The medical community did not provide treatment to children with Trisomy 21 until a few decades ago. We are displaying the same bias towards children with Trisomy 13 and Trisomy 18 when we fail to recognize that they have the same right to medical/surgical treatment as all other children. The families of children with Trisomy 13 and Trisomy 18 have the undeniable right to participate in medical decision making. Children's hospitals must stop their discriminatory practices of withholding life-saving interventions in these children. It is the ethical thing to do.

A MOTHER'S STRUGGLE TO GET CARDIAC SURGERY FOR HER SON WITH TRISOMY 13: READ BELOW

"When I was five months pregnant the neonatologist performing my sonogram explained that my son’s heart had not developed properly. He told me my son had Tetralogy of Fallot. However, he was surprisingly encouraging, even giving examples of celebrities and athletes who had the same condition and thrived after surgery. He mentioned this condition is commonly linked with chromosomal anomalies and though he didn’t see any other major markers he suggested genetic testing. Had I known then how drastically a label would alter the way everyone viewed and valued my son’s life I would have never agreed. 

 Suddenly, the idea of my son receiving the essential life-saving surgery, I had previously been informed had an exceptional rate of success, was ludicrous because, as I kept being told, “these babies don’t live”.  

 Six hospitals, nine months, countless meetings/phone calls and sitting through comments like “He’s going to die anyway.”, “You can always have another.”, “Why burden your family.”, “I don’t doubt he would survive the surgery, but I won’t operate on a Trisomy 13.”. That’s what he called my son, a Trisomy 13. In that moment I realized my son was no longer viewed as a unique individual or even a living being. He was seen as a condition. 

 I kept being reminded these babies die, yet no one person could give me a definitive answer aside from not receiving the necessary interventions, why they were certain my son was going to die. I would point out that Trisomy 13 does not kill babies, its secondary untreated conditions that result in death. A few would tell me I was only prolonging the inevitable. But isn’t that one of the main goals of medicine? Saving lives from death and helping people reach their potential?  

 One surgeon said no because even if they performed the surgery they couldn’t guarantee it would significantly prolong his life. I understood his reasoning, however I also understood by not performing the surgery they were guaranteeing my son’s imminent death. How long did he have to live in order for his life to be considered worth saving? 

 Prenatally I was told the odds of him making it to full term and living past a week were slim. He was born at 40 weeks and 2 days gestation. When his heart rate started dropping during labor I opted for a Cesarean, even this was initially met with opposition. The obstetrician felt putting my body through the procedure for a baby with such poor prognosis wasn’t wise. At 5 days old my son had a small omphalocele repaired and healed magnificently after surgery, however heart repair was still out of the question at that hospital. When my son wasn’t gaining weight, they blamed the Trisomy even though he had been without milk or even TPN for a week, when his breath holds started I was told it was Central Apnea because of the Trisomy and there wasn’t anything they could do, however they refused to do a sleep study. I had learned about and requested caffeine therapy, though we soon discovered what they thought was Central Apnea was actually tet spells in response to the discomfort he was feeling from a urinary tract infection. Moreover, It wasn’t until I started sending out the paperwork for second opinions that they started him on medication for his heart.  

At 2 months the tet spells were becoming more frequent and he had to be intubated and put on prostaglandin. During intubation he fought off 3 bouts of pneumonia and a respiratory infection. Aside from this my son was otherwise healthy. Still his resilience wasn’t enough for this new hospital to consider heart repair.  

 After nine months of being told no and repeated suggestions to let my baby pass in the comfort of our home, I was able to track down the number to the assistant of a prestigious pediatric cardio thoracic surgeon. I begged her to help me save my son’s life. At 3 months old my son was finally able to receive, what his cardiologist calls, “the best Tetralogy of Fallot repair he has ever seen”.  I am fortunate and grateful to say my son now has an impeccable care team and thanks to Dr. Rao receives the care he needs to help him reach his potential. Julius is a happy active 19-month-old, says mama and wawa, has a huge personality and even larger love of music, his favorites being Stevie Nicks, Pink Floyd and Biggie, and a smile that can light up a room. Contrary to what some may assume, my son is not a burden nor is the hardest part about being a special needs parent the extra support he requires. The hardest part has been the fight for care. I understand Trisomy 13 is traditionally taught as being incompatible with life and while no one procedure or treatment can guarantee life, withholding or limiting care will guarantee death."

____ JM, mother of a patient with Trisomy 13