In the last few weeks, a large swath of the American public has been asking, “What is Trisomy 18?” for the first time. It began in the wake of Senator Santorum’s decision to leave the campaign trail in the Florida primary the last weekend in January to be with his critically-ill daughter who was hospitalized, and then many began questioning the severity of Bella’s condition. As the Executive Director of the Trisomy 18 Foundation, I know many families who all have their own stories of loving a child with Trisomy 18. As a community of parents, they are all grateful to the Santorum family for their openness in sharing the exact nature of Bella’s condition with the world. For too long, Trisomy 18 has been a hidden disorder, as well as the stories of the families coping with a Trisomy 18 diagnosis.
I run the Foundation that supports these families, but I am also a parent of a child lost to Trisomy 18 at 11 days old. At the Foundation, we hear from families in the thousands every year because, although survivors like Bella Santorum are rare, families learning about a Trisomy 18 diagnosis, usually at around 16-20 weeks of pregnancy, are not rare at all. Studies in recent years at the CDC found that approximately 1 out of every 2500 pregnancies result in a Trisomy 18 diagnosis.* Learning about this condition turns these parents’ worlds upside down and steals their dreams of the healthy child they were expecting.
Parents are faced with the challenge of making heart-breaking decisions about how to be the best parent they can be to this child with a disorder they’ve never heard about. And they grieve deeply for the “fantasy” child they were expecting that would grow up to live a long life and make them grandparents one day. From my position within the Foundation, I have had the honor to witness, listen, and advocate for the needs of literally tens of thousands of families over the last decade. What I have learned to be true is that is that all these parents fear three things: they are afraid of losing their child to death; they are afraid of the dying process; and they are afraid of their child suffering. Depending on which of those fears are foremost in the parents’ mind at any given time, parents can make very different choices about how to best care for their child as a unique individual. Some parents choose to interrupt their pregnancies and “Say Early Goodbyes” (their term). Some others whose children survive the newborn period choose surgical interventions, such as cardiac malformation repairs, feeding tubes, and tracheotomies, all of which may give the child and family more time beyond the newborn period. But death will still come for this child sooner than it should. Of the babies who make it to birth, 90% will not live to see their first birthday. Knowing that, many parents also embrace the principles of perinatal hospice and palliative care to give their infants as peaceful and comfortable a passing as nature would dictate. But I know that all these choices are made out of a parent’s love for their child. I know that every child’s life . . . no matter how fragile or brief, forever changes these parents’ worlds, far beyond the child’s lifetime.
The biggest challenge they face is the lack of evidence-based information about how Trisomy 18 actually impacts a child’s life and what interventions may be helpful or hurtful. We also don’t understand the wide disparity in clinical outcomes for these children. Surgery is always risky for a medically-fragile child. Trisomy 18 is a genetic diagnosis, but it is not a medical prognosis. These children all have the same genetic makeup with an extra 18th chromosome — but that doesn’t actually tell us very much about how the unique genes providing this “extra dosage” of genetic information and how it disrupts the development of the individual child. And without that, parents and their doctors are left without any treatments or specific guidance to address the condition itself. That is what the Foundation is committed to changing through our investments in clinical and basic research.
From the many families with children like Bella Santorum that are in our Trisomy 18 community, we know today that Trisomy 18 is not “incompatible with life,” but it is still incompatible with a long life. It is still incompatible with a life free of major health and developmental challenges that will require life-long care and home nursing support. But does that mean that because we assume they will die, that we should let them die? Futile language can lead to fatal outcomes because these children are expected to die. Decades ago, children born with Down syndrome tended to die around 3-5 years old because they had congenital heart malformations that were considered futile to correct. Now it is considered the standard of care to treat these defects early, and the average life expectancy for adults with Down syndrome is around 60. And we are seeing amazing breakthroughs in the study of Alzheimers from studying the lives of adults with Down syndrome who themselves exhibit symptoms of early-onset Alzheimers disease. These adults are living today instead of dying as young children because our standards of who to treat with cardiac surgery has changed and evolved. Who is to say that the children with Trisomy 18 may not hold the key to other pediatric or adult onset diseases searching for preventions and treatments?
The truth is there is much we do not know about Trisomy 18 and how to prevent it or treat the children born with it. We can only treat the symptoms today, and only for so long before death inevitably comes. Every day in the United States alone, 10 families are learning their new baby has Trisomy 18. And most of those families will never get the chance to celebrate their first birthday.
It’s unacceptable that there isn’t medical research trying to understand how this condition can be treated or prevented. Genetic research today can uncover much we do not presently know. And Trisomy 18 can become a preventable and treatable condition for future generations. That is my commitment, shared by many parents working together as a community of parents, to bring new research and new treatments to children with Trisomy 18, so that fewer families lose their precious newborns to this condition.
*Crider KS, Olney RS, Cragan JD. 2008. Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet Part A 146A:820-826.