With the advancements of science and technology, it is now possible to reliably diagnose rare conditions early in pregnancy. Likewise with the explosion in genetic analysis, we can now identify the cause of previously uncharacterized syndromes. Whereas these diagnostic capabilities offer the certainty of a diagnosis, they also have the potential to launch families into new, and often uncharted waters filled with an array of questions about the future.
Many rare conditions carry risks of future cancers, intellectual disability, autism, psychiatric co-morbidities, or seizures. The risks of future diagnoses are based on small numbers of patients with conditions that have variable presentations and outcomes. Parents are faced with statistics that we might try to represent as a slim possibility, but we must remember that they are seeing this slim possibility through the lens of a parent whose child has a rare condition.
Receiving a diagnosis of a rare condition seems such a random and unimaginable event, making the leap to seeing your child with a series of future random and unimaginable events is actually rather obvious. If we add to this the anachronistic label of “lethal diagnosis”, the advent of rapidly expanding technological boundaries may not seem so comforting.
My experience has been that most parents will do anything within their means to help their children. Parents of children with disabilities or medical complexity are no different and are frequently quite innovative in their attempts to create opportunities for participation and inclusion. When the status quo is not enough, they advocate for something different or they figure out a way to make it work.
Statistics also provide a window into survivability. We know with certainty that many conditions carry the prognosis of a limited lifespan. Since it is nearly impossible to predict the length of a lifespan, especially as the boundaries of science and technology continue to expand, we land, once again, in the arena of uncertainty. Parents and clinicians alike must learn to live with uncertainty.
So, where does hope fit into this equation? We all need hope to continue in the day-to-day care of our children and patients. We certainly need hope to support one another. We also need hope to innovate, to advocate, to make meaning and to risk love.
And what about the notion of false hope? If we know that an outcome is unlikely, is it wrong or misleading to encourage abundant hope? Is it truly in the best interest of the patient, family or clinician to protect each other from the disappointment of a sad outcome, even if it is anticipated? Is it any less sad if it is unexpected? Is it false hope, to imagine with a parent that their child will walk, or talk, or make it to Disneyworld with a ventilator in tow? I don’t think so.
Encouraging hope in a parent or caregiver is an act of kindness.
Recently I was invited to take part in an annual round table dinner-discussion hosted by the Anne L. Brodie Fund for medical education. The fund also supports students as they learn the "skill and heart to care for patients" with the aim of becoming The Brodie Renaissance Physician.
The Brodie Renaissance Physician: Is called to artful, compassionate,
patient centered care. Takes responsibility for the whole patient / person.
Is adept with the newest technology but also possesses
finely honed listening and physical exam skills
to limit dependence on technology.
Strives to improve on each individual patient encounter,
and also on systems of practice.
Is a scholar, teacher and role model.
In preparation for our dinner discussion, each guest was asked to reflect on the intersection of technology and caring, and to give an example of a situation where technology could never replace the physician. Offering hope, and expanding the frontier of hope seemed an apt example from my work with families of children with medical complexity.
As I have gotten to know families whose children carry a “lethal diagnoses” or live with significant, life-limiting disability and medical complexity, I have seen magnificent hope blossom amidst slim possibility for success. I have experienced the frontier of hope expand as parents and clinicians join together with proximity to the challenges and the risk of disappointment.
Extending hope across the chasm of feared disappointment is a great kindness. Learning to expand the frontier of hope is as significant as extending the boundaries of science and technology. We need to challenge ourselves with equal energy and determination on both fronts.