When living with any rare condition, decisions around care are rarely straightforward. They often begin early, sometimes before a child is born, and can carry lifelong implications. For families, they are deeply personal — shaped not only by medical information but by lived experience, values, and long-term goals. As a physician, a person living with skeletal dysplasia, and a mother of two children living with skeletal conditions, I’ve spent much of my life navigating complex medical decisions. These experiences have shaped how I approach care, not only as something delivered to patients but as something built with them. 

Skeletal dysplasia encompasses a group of genetic conditions that affect how bone and cartilage develop. These conditions, including achondroplasia, can result in differences in height, mobility, and overall health — often influencing daily routines, long-term health planning and quality of life.

Within this reality, shared decision-making becomes essential. At its core, shared decision-making is a collaborative approach through which clinicians, patients, and families work together to evaluate options and determine care pathways that align with the patient’s goals, values, and lived experiences. 

I recently joined a panel at the Boston Globe Rare Disease Summit, where patients, parents, clinicians, and advocates explored how collaboration and open dialogue can reshape the way care decisions are made.

The importance of lived experience and listening

Living at the intersection of physician, patient, and parent has taught me that we cannot medicalize every challenge. This perspective helps me to come from a place of empathy and compassion, informed by what it feels like to sit on both sides of the conversation — to guide decisions and to live with them.

The power of listening is undeniable in care settings. It requires humility to recognize that patients and families are experts in their own lives, and that their perspectives are essential to making informed care decisions.

Kristen DeAndrade, an advocate and woman living with achondroplasia, shared that lived experience shows up in care as spaces where “acceptance and listening and nonjudgment are the norm.” Her advocacy work is rooted in a desire to help individuals and their families feel supported in making decisions that align with their values.

Listening also means understanding that decisions take time. Cristian Garcia, who lives with achondroplasia and is a father to two children with the condition, explains that, “Shared decision-making just shows up in slowing things down and really talking things through with each other. Our care team’s decisions reflect not just medical input, but our kids’ real experiences and what works best for our families.”

In medicine, there’s sometimes a tendency to move quickly toward answers. But for families, these decisions are layered with emotion, uncertainty and long-term implications. Creating space for thoughtful dialogue leads to better outcomes.

As clinicians, our job is not to tell parents or patients what to do, but to elevate them as experts alongside us. When we shift from directing decisions to guiding conversations, the dynamic transforms into a partnership grounded in trust, respect, and a shared understanding of what matters most. 

Partnership in practice

Shared decision-making requires clinicians and families to move beyond their traditional roles as advisors and choose to engage as partners. 

Becky Jackson Curran, an advocate and woman living with achondroplasia, reinforced the importance of shifting these interactions: “Instead of physicians saying, ‘You should do this,’ they should say, ‘What is it that you want?’ Have that open line of communication and help work toward that plan.”

And yet, I know firsthand that speaking up in health care settings is not always easy. There is often an unspoken hierarchy that can make patients and caregivers hesitant to share their perspectives. Even as a physician, I have felt that tension. That’s why creating space for open, nonjudgmental dialogue is so important. The best outcomes happen when every voice in the room is heard and respected. 

For many families, these conversations begin before a child is even born. A diagnosis such as achondroplasia during pregnancy can bring a wave of questions and uncertainty. In these moments, access to clear information and thoughtful communication can make all the difference as families consider what’s right for them.

Community, collaboration, and the path forward

Beyond the clinical setting, I’ve also seen the profound impact of community support. Connecting with others who share similar experiences can offer both reassurance and perspective, as well as a reminder that they are not alone.

As DeAndrade shared, “There’s so much power that comes from community and from these shared decisions.” I couldn’t agree more. These connections provide not only emotional support, but also practical insights that can inform decision-making and build confidence.

Looking ahead, continuing to improve care for individuals with rare skeletal conditions will require that same partnership. Clinicians, patients, caregivers, and advocates each have a role to play in creating a more informed, connected, and supportive care experience. 

Ultimately, shared decision-making is shaped by partnership and community support. It requires both honest conversations, even when they are difficult, and a shared understanding that the best decisions are not made for patients, but with them. When care reflects that sense of community, we can improve individual outcomes while strengthening how we care for one another. And that is where meaningful change begins.

For more information about achondroplasia, helpful resources, and support, visit The Inside Story.

Dr. Jennifer Arnold, MD, MSc, FAAP is a pediatrician, board-certified neonatologist leading the Simulation Program at Boston Children’s Hospital and a professor at Harvard Medical School. Prior to joining Boston Children’s Hospital, Dr. Arnold served as the medical director of the Simulation Center at Johns Hopkins All Children’s Hospital in Florida where she helped lead national efforts in immersive, hands-on learning to improve outcomes in pediatrics. Dr. Arnold has dedicated her life to improving health care for the most vulnerable – from premature infants in the NICU to children born with rare conditions requiring lifelong, specialized care. She has also focused much of her career on advancing health care simulation, patient safety, and medical education.