CNBC’s Therapy: Raising my son with Angelman changed me as a doctor and father

A version of this article first appeared in the CNBC Cures newsletter. Click here to sign up.

We tend to think of doctors as stoic figures who parachute into our lives whenever we have a problem.

They meet us at rock bottom, offer any help they can, and leave as quickly as they come in.

Those interactions, however brief, can leave a lasting impression on us. But we don’t always consider how it affects them. After all, we are patients. No matter what message a doctor conveys, we are the ones living with the real-world consequences.

So what happens when the roles are reversed and the medical professional becomes the one receiving the rare disease diagnosis?

Dr. Joseph D’Orazio shares his experience working as a physician and raising a child with a rare disease. One thing to note. When D’Orazio uses the term “happy doll,” he is referring to the history of Angelman syndrome.

—Brad Quick, Senior Editorial Producer

There are moments in every parent’s life that divide time into forward and backward. In my case, it was a phone call.

I had just finished a particularly difficult shift in the ER when I received a call from my wife, Linda. I was sitting in my car in the hospital parking lot when she tearfully uttered the words “Angelman syndrome.” The parking, the lighting, the emotion will never be forgotten. My mind immediately went to “Happy Puppet”. I remember learning about Angelman syndrome in medical school like it was yesterday. No matter how short the lecture was, like a good medical student, I memorized several buzzwords related to this syndrome – chromosome 15, maternal inheritance, happy attitude, happy puppet. At that moment, buzzwords ceased to be abstract. That was my son, Gabe.

And there was nothing orderly about it. As an emergency physician, I was used to delivering bad news. I was used to helping families work through their grief. I understood pathophysiology and how to explain it. But I wasn’t prepared for what it meant to be on the other side of that conversation. I was not prepared for the clinical scenario, but for the feeling of losing control of the future I had quietly imagined for my child.

It can be especially disorienting when doctors become parents. Knowledge can be a double-edged sword. You have enough knowledge to understand its meaning. You have enough knowledge to foresee challenges. However, it quickly becomes clear how little we actually know about controls. There is no algorithm that will prepare you for bedtime after receiving a life-changing diagnosis. There is no civil service exam that will teach you how to grieve the future you envisioned.

This diagnosis instantly changed the trajectory of our family, even if the changes unfolded slowly. That changed the way we talked about milestones. It has changed the structure of our days. It has changed the way we plan for the future. We will never be empty nesters.

I felt sad. At first, I was silently saddened. I felt sad about the imaginary conversations I thought I would never have with my son. I was sad that I couldn’t play catch in the garden. I was sad that we couldn’t talk about Philadelphia sports, the cheers and the boos together. Grief in rare diseases is not a single event, but rather overlaps and occurs repeatedly. It comes back to birthdays, church, Phillies games, the park, and other moments where comparisons are inevitable. It will soften over time, but it will not disappear.

I grieved deeply for at least a year. Sometimes it was heavy. There were some subtle things. When I was caring for a child with special needs, I was sometimes shocked and brought to tears. For better or worse, it affected me as a person, as a parent, and as a doctor.

Sleep, or more precisely the lack of sleep, has had a huge impact on our lives. Angelman syndrome is often accompanied by severe sleep disturbances. The night blurred into morning. Linda and I were in a state of chronic fatigue, which is difficult to describe unless you’ve experienced it. We learned to trade shifts. We learned to manipulate fragments. We learned how deeply fatigue permeates every part of our lives: patience, decision-making, mood, and hope.

At the same time, managing Gabe’s appointments and treatments became almost a full-time job in itself. Neurology examination. therapy session. Care coordination. Insurance approval. phone. Paper work. More paperwork. Follow up. The calendar filled up quickly and was rarely empty. What once felt like an occasional obligation has become a structural pillar of our daily lives.

My wife had to downsize her thriving business to juggle the work that comes with being a special needs family member. Our professional lives did not exist outside of this reality. They were shaped by reality. In order to be the best parents to Gabe, we had to make difficult decisions about our jobs. Schedule has been adjusted. Opportunities were weighted differently. Flexibility has become currency. Productivity and unpredictability had to coexist. We started making intentional decisions as a family to adapt to this life. These were not dramatic decisions made once. They were continuous readjustments.

For me, balancing medicine and fatherhood in this situation required humility. You couldn’t be everywhere at once. I couldn’t drive at full throttle forever. I had to face the limits of my patience. We both were. But even in that exhaustion, something else was taking shape. Gabe changed me.

He taught me patience like never before. He taught me that joy is not proportional to accomplishment. He taught me that dignity and independence are not equal. He taught me to see vulnerability not as weakness, but as humanity in its purest form. Over time, I realized that I was practicing medicine differently. My passion for caring for vulnerable and stigmatized people has taken on new depth and meaning.

Gabe gave me a lens that my medical training never could have afforded. He made me a better doctor. Not because I understood genetics more deeply, but because I had a more honest understanding of fear, hope, and resilience. As a clinician, I may once have been insulated from work absences, insurance claims, transportation arrangements, and the emotional burden families endure. The weight of being a special needs parent has given me a new perspective. Empathy is no longer an abstract professional virtue, but is taught through lived experience. Gabe has made me a more patient listener, a more insightful observer, a more passionate advocate, and ultimately a better physician.

Our family relationships have evolved as well. Linda and I learned how to communicate differently. We learned to share responsibilities in new ways. We learned that partnership under pressure requires intention. Rare diseases don’t just affect children, they are a pressure cooker for families. Reframe dinner table conversations and long-term planning sessions during life’s unexpected lulls.

Becoming Gabe’s father has made me a different parent to both of my children. I parent Madeline and Gabe very differently. Not because they love differently, but because they walk through the world differently. Madeline is brilliant, capable, insightful, and growing. She easily learns new skills. She navigates school, athletics, art, and new experiences with complete confidence in herself.

In contrast, Gabe struggles with just about everything except social engagement. Tasks that come naturally to most children require a great deal of effort from them. Still, I have extraordinary patience with him. His unintentional behavior, his impulsiveness, his limitations—they don’t irritate me. We see a vulnerable young boy working hard inside a body and brain that doesn’t function properly. I see efforts that others may find confusing. Where others might see delay, I see perseverance. Raising him has made me softer. It expanded my patience and readjusted my expectations about what progress really means.

At the same time, I was acutely aware of the experience of “The Glass Child.” When we go out in public, Gabe’s presence fills the space. He is a sociable and charming person, like a politician in a crowd, eagerly waving at strangers, laughing, smiling and engaging with anyone he makes eye contact with. Since his disability is visible, people’s attention naturally focuses on him. And too often, it gets through Madeline. She is next to us, accomplished, thoughtful, stable, and she can be invisible at the moment.

I’ve learned to be careful with it. To bring her back to the center. To ensure that she is fully seen, heard and celebrated. But it’s difficult. No matter how careful parents are, they cannot overcome the experience. Parenting in our family requires us to hold both truths at the same time. That means passionately advocating for children with great needs, while protecting and nurturing children whose needs may be less significant, but no less so.

Along with the grief and readjustment, something else grew. That’s the purpose. I became involved with the Foundation for the Treatment of Angelman Syndrome (FAST) initially looking for information and connections. What I found was community. Other parents who understand without explanations, scientists who push boundaries, advocates determined to accelerate research, and fundraisers who turn personal pain into collective momentum.

Advocacy turned isolation into connection. It allowed me to put my medical training to work in a very personal way. This allowed us to build a relationship rooted in shared experiences. It allowed pain to evolve into purpose. Rare diseases, by definition, affect a small number of people individually. But collectively, they represent thousands of families navigating uncertainty, resilience, advocacy, and love. Often these stories remain invisible. Families often feel like they are walking a lonely path. But within our Angelman community, they are not alone. I feel incredibly fulfilled when I have the opportunity to speak with families who are newly diagnosed and are navigating their new reality. I stand on both sides of the aisle: clinicians and their parents.

Looking back on that phone call in the parking lot of a remote hospital, the moment when time was split into two, I couldn’t have predicted that the “after” would be anything more than sadness. It will bring growth, realignment, community, and a deeper understanding of what it means to love without conditions or expectations.

This is our story. And there are countless others who are quietly rewriting what family, work, and resilience look like while balancing hospital shifts, treatment schedules, sleepless nights, and advocacy work.

Their stories also deserve to be told.

—Dr. Joseph D’Orazio, an addiction medicine physician at Cooper University Hospital in Camden, New Jersey. D’Orazio is also a member of the FAST Action Council, serving as a leader in advocacy, fundraising, and ambassadorship.

Dorazio’s son, Gabe, is 9 years old, and his daughter, Maddie, will be 11 this month. Gabe was diagnosed with Angelman in 2018, just before his second birthday. D’Orazio said Gabe continues to face challenges, but is currently doing well and making progress with “inch stones.” Maddie continues to be an inspiration to her brother, adding that Linda holds the family together with “an unseen level of organization and resilience.”