As a woman living with achondroplasia, the most common form of short-limbed dwarfism, I’ve experienced firsthand the indifference our society often shows to those living with rare conditions. But I believe when we make space for conversations — even when they’re difficult — we can live better lives through the incredible power and profound connection of sharing our experiences.

Achondroplasia occurs in roughly one in every 15,000 to 25,000 live births worldwide and around 80 percent of individuals are born to average-height parents like mine. Beyond differences in height, achondroplasia can cause respiratory and neurological issues, sleep apnea, and/or musculoskeletal problems, with many people requiring dozens of corrective surgeries throughout their lives. On a deeper level, living as a little person in a world not built for your needs can be physically and emotionally challenging. 

As a child I was taught that I was capable of anything and navigated my world with happiness and pride. But as I made my way through grade school, I began to understand society’s perception of someone like me: I was seen as less capable and even a subject of ridicule. It felt like many people wanted to put me in a box, to move me to the side and forget I was ever here in the first place. At 12-years-old, I made a decision that would shape the rest of my life: I wasn’t going to let them.

Finding a better start to the conversation

Since childhood, finding the right doctor has been incredibly challenging and often means traveling long distances to get the care I need. This experience is shared by many people living with achondroplasia or other skeletal conditions and can be especially difficult for parents expecting and caring for children with achondroplasia. In fact, it’s common for new parents to find themselves sitting in front of healthcare providers who have in their careers only worked with one or two people with achondroplasia — if any at all. 

I recently had the honor of hosting a panel at The Boston Globe’s Rare Disease Summit, sponsored by BioMarin, where a group of advocates and experts discussed how making space for conversations can lead to better outcomes for people living with achondroplasia. There Kate McLeod, a teacher, advocate, and parent of a child with achondroplasia, shared how her first conversation about achondroplasia left her with more questions than answers. 

“I was 33 weeks pregnant when I had the longest ultrasound of my life,” McLeod says. “The doctor finally walked in and said, ‘I’m so sorry, your daughter has achondroplasia.’ The doctor then proceeded to tell me all the things my daughter wasn’t going to be able to do.” 

For McLeod, her own experience raising her daughter is proof that we need better conversations about achondroplasia from the start. “I wish I could go back and show myself my beautiful child who can jump and skip and play and sing.”  

Dr. Christina Jacobsen, Assistant Professor of Pediatrics at Harvard Medical School and Director of the Bone Health Program at Boston Children’s Hospital, says that McLeod’s experience is unfortunately rather common. 

“Are there challenges? Absolutely,” Jacobsen says. “You want to give people a clear picture of what life’s going to be like, but you also want to leave them with the fact that their child will live a happy life.”

Healthcare providers play a critical role in the dialogue

Having the right healthcare team has helped me get through many challenges throughout my life, but it hasn’t always been easy. Nine years ago, I was diagnosed with spinal stenosis, or compression of the spinal cord, which threatened to leave me paralyzed. Thankfully, because of the community that I had built, I was able to find a doctor who saved my ability to walk.  

Part of improving the quality of care available to people with achondroplasia means having healthcare providers willing to educate their colleagues. Dr. Jennifer Arnold, a pediatrician and neonatologist living with skeletal dysplasia while raising two children with achondroplasia, believes healthcare providers can do more.

“In one of my first meetings as an attending neonatologist, I sat in a conference room of colleagues discussing a mother’s unborn child who had been diagnosed with skeletal dysplasia, and the things I heard were devastating,” Arnold says. “I thought ‘Don’t you see me sitting right here while you’re saying these things?’ And so it became my goal to help raise awareness within the professional sphere.” Jacobsen agrees. In her experience, one of the most valuable things healthcare providers can bring to the conversation is the right mindset.

“My advice to healthcare providers is to start with high expectations for your patients with achondroplasia. Start with the belief that they can do really well and lead wonderful lives.”

Fostering open and honest conversations about treatment

Within the dwarfism community, there have always been differing views on treatment. It’s crucial to understand that no treatment should ever be seen as a “fix.” There is nothing wrong with me — achondroplasia is a part of who I am — but the choice to pursue or even simply consider therapeutic options should never leave someone feeling like an outsider.  

My health care choices have always been to avoid potential complications, decrease pain, and increase independence, not to erase my identity. Yet my decision to pursue surgery was often met by negative reactions that left me feeling like an outsider simply because I did what I believed was in the best interests of my health. And I know I’m not alone in my experience. As the landscape of treatment options for people with achondroplasia continues to evolve, having open and honest conversations — both within the community and with our healthcare providers — has never been more important.    

And like in any good conversation, listening is critical. For Jacobsen, that means occasionally thinking less like a physician and more like a trusted confidant. 

“I have learned a great deal from the community and families by listening,” Jacobsen says. “When people open up about their challenges, it’s often these simple things that you don’t always think about when you’re checking off your boxes during an exam.” 

She also understands that every individual and family is different.

“Part of my job is to let patients know what options exist, but I make it very clear that whether or not they’re interested has no effect on our relationship whatsoever.” 

To better help parents, caregivers, providers, and people living with achondroplasia navigate tough decision-making, I was a co-author on the recently published first international achondroplasia treatment guidelines. At the most fundamental level, we’re talking about a child’s future. The reality is there are some serious medical complications that can arise from skeletal dysplasia that go beyond height and it’s so important that families have the guidance they need to feel confident in their healthcare decisions. 

Ultimately for McLeod and her family, every conversation with their physician comes down to a simple goal. 

“Our focus is on what will give our daughter the best quality of life and the best chance at success,” she says. “We take that to our doctors, have those conversations, and go from there.”    

Finding strength to take on the tough conversations 

As an advocate, I’ve dedicated my life to smashing stereotypes, dismantling barriers, and boldly engaging in conversations that untangle life’s intricacies. However, my path is by no means a template that everyone should follow. All individuals need to decide for themselves what makes them feel empowered, safe, and fulfilled.  

For McLeod, finding this balance while raising her daughter hasn’t always been easy. 

“Having to educate people about their language choices or why asking questions about someone’s appearance is inappropriate has been really tricky,” she says. “But I feel that as an educator, it’s important for me to step in and have those tough conversations, even with strangers in the grocery store.” 

In Arnold’s view, sometimes the most powerful way to shape the conversation is to live your best life despite the challenges. 

“My advice is don’t give up. It may sound a little cliche but it’s true,” Arnold says. “I have always believed that if I let all of the adversity stop me from doing the things that I want to do, then the only person that’s suffering is me.” 

Sharing my journey and educating others has been the work of a lifetime. My message to anyone facing the ups and downs of adversity is simple: No matter what you’re going through, embrace the tough conversations. There are always people willing to listen, whether it’s a parent, friend, doctor, therapist, or even a complete stranger at the grocery store. The more we understand each other, the more we understand ourselves and see the beautiful, brilliant people we truly are.  

Kristen DeAndrade is an author, advocate, and founder of The Little Legs, Big Heart Foundation whose mission is to empower and uplift individuals living with skeletal dysplasia and their families, encouraging them to live life beyond height. 

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