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Georgi Dakovski, Meghan Halley, and children Philip (age 5), Gabriella (age 6), and Emily (age 2),

When a child’s quality of life outweighs the next test or procedure

A Stanford researcher talks about navigating the uncertainty of making medical decisions for her 5-year-old son with an undiagnosed genetic disorder.

Stanford Medicine social scientist Meghan Halley, PhD, has learned to embrace uncertainty when making medical decisions for her 5-year-old son, Philip, who has an undiagnosed genetic disorder with physical and medical complications that never end.

"People often say to me, 'I don't know how you do it. I could never do it,' But as a parent you do it," Halley told me in a 1:2:1 podcast. "You do what you need to do."

To be sure, caring for Philip is a family affair. Her husband, she said, is "a wonderful partner ... an incredible father and advocate." An identical twin physician sister helps her understand the challenges that doctors face in treating patients with complex illnesses. And a younger sister donated a portion of her liver to Philip when he needed a transplant.

Meghan Halley and baby Philip
Meghan Halley with Philip, age 6 months, after his fourth bowel surgery

In a poignant perspective piece published last week in the New England Journal of Medicine, Halley, a researcher at the Stanford Center for Biomedical Ethics, talks about how she navigates the sea of uncertainty about Philip's care by focusing on the quality of her young son's life.

This Q&A is edited and condensed from that conversation.

When did you first learn that Philip had major medical issues?

We knew something was concerning before Philip was born. An ultrasound late in my pregnancy showed issues with his bowel, but we didn't quite know what they were.

He was born about three weeks early in an urgent induction and was rushed to the neonatal intensive care unit to be assessed. Three days later, he had a major exploratory bowel surgery that fixed a number of blockages and a large perforation.

We brought him home three weeks later, on Christmas Day -- his original due date -- feeling like we had really dodged a bullet. By New Year's, he was back in the hospital.

As the years went on, his medical condition didn't stabilize, did it?

Coming up on his third birthday, Philip woke up one morning unable to walk, speak or eat. He had a major stroke that immobilized most of the right side of his body. That was when we really started to understand the complexity of what was going on with him, and how little we knew about it.

We were referred to the National Institutes of Health's Undiagnosed Diseases Network. It's a network of geneticists and clinicians who are committed to finding answers for patients who, despite extensive clinical and genetic workups, remain without a unifying diagnosis to explain their complex health issues.

Philip, age 5, during a hospitalization

You're a social scientist in the field of biomedical research. What is the upside of being armed with data, expertise and knowledge?

As a medical anthropologist, a lot of my work and research have focused on medical decision-making: How do we support patients and families in making decisions about their health in collaboration with their physicians?

Medical decision-making is really challenging for patients and for providers even when the decisions are relatively straightforward or when there's a preponderance of medical evidence to support and inform a decision.

We've barely begun to scratch the surface of what we need to do to support patients and physicians struggling with decisions under extreme uncertainty.

What made you want to write the poignant perspective piece for the New England Journal of Medicine about Philip and your family?  

I hope it reaches other patients and families grappling with undiagnosed and rare diseases, but also those facing known chronic illnesses that require repeated hospitalizations or procedures.

The experience of trying to make individual decisions, while also seeing the cumulative impact of those decisions on your family, is one that will be familiar to them.

My goal was to convey to physicians that it's OK to acknowledge and discuss uncertainty, and that couching decisions in a broader discussion of what feels feasible and right for a family can be the best medical care you can provide.

I have come to recognize that the repeated interactions with the health care system -- the chasing, with good reason, of an answer and attempts to mitigate symptoms for which there is no known cause -- has a dramatic long-term impact on Philip's and on our family's quality of life.

Is Philip's illness still an undiagnosed genetic disorder?

He has some sub-diagnoses and a conglomeration of symptoms but they have still not found a diagnosis. We remain hopeful.

Rare and undiagnosed diseases are often thought of as uncommon, but in total they actually affect about 30 million people in the United States. Individuals diagnosed with rare diseases go through a diagnostic odyssey that averages about six years.

Philip at age 4, with sister Gabriella, then 5

They are trying to make the best decisions they can for their health without knowing what they are trying to fight against.

How is Philip doing today? 

He has always been a happy kid -- he has the best laugh. His life is both beautifully typical and incredibly atypical.

We hope for the best, but are constantly planning for the worst. There's uncertainty in his medical condition, and that inserts a stunning level of uncertainty into his life and into our life as a family.

It's small decisions you have to make day-in and day-out that really take a toll. Do I wake Philip up to give him his medications, or does he need his sleep more than he needs a medication on time? When a provider recommends a new treatment regimen, how much do I push back because it will be too onerous for Philip?

I feel like I've had to develop my own approach and style as I've evolved as a decision-maker for Philip.

Photos courtesy of Meghan Halley. Top photo: Georgi Dakovski, Meghan Halley, and children Philip (age 5), Gabriella (age 6), and Emily (age 2).

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