Embracing the Joy and Gratitude in Skeletal Dysplasia Resources

Let’s talk about something that’s been buzzing around the skeletal dysplasia community. Yesterday, we shared MyAchonJourney.com a new educational resource designed to support individuals and families affected by achondroplasia. Created in partnership with QED Therapeutics, a Bridge Bio Pharma company, MyAchonJourney provides reliable information and practical tools from
pregnancy through the first five years of a child’s life, empowering families. How amazing, right? Especially considering no other organization has taken the bull by the horns to create such a valuable resource!

Well, apparently not. The fact that big pharmaceutical companies like BioMarin and BridgeBIO have snatched up domains like Achondroplasia.com — everyone has cued the alarm bells. I get it. Some folks are worried that these companies might be reducing our lived experiences to some “medical problem” that needs “fixing.” They’re concerned these sites will be dripping with ableism, framing achondroplasia as a condition that needs to be treated rather than a life that’s meant to be lived. And yeah, I feel that.

But let’s be real here—before we go lighting torches and grabbing pitchforks, let’s look at the site before making all of these bold ableist assumptions and see what it actually has to offer. get one thing straight. When it comes to this issue, I’m more on the side of pharma. Why? Because you snooze, you lose. Seriously, what individuals are going to own the domains of medical diagnoses? Hi, my name is Kristen, and I’m the proud owner of achondroplasiadwarfism.com. Ummm, no. Come on, people. It doesn’t work like that.

As someone who’s been advocating for our community since forever, I see a bigger picture here. Just the other day, I had this exchange that perfectly illustrates the point. A Facebook member said, “The information on the MyAchonJourney site is biased as the information is framed in a medical model paradigm, which supports ableist understandings of dwarfism.” So, I asked, “What model would better suit the information? And what do you consider an ableist understanding of dwarfism?” The response? “A critical disability rights perspective. One that does not ignore the medical aspects of dwarfism, but also provides a socio-cultural understanding of the condition.” And while I appreciate the passion behind this perspective, it’s missing the bigger picture. Also, how about we actually take the time to look at the resource that is offered before jumping to conclusions and making our bold, ableist assumptions?! If people had done so they would notice that included are: home adaptations, psychosocial support, extracurricular activities, and school adaptations for a child that is 0-5 years old. That goes FAR BEYOND a medical model paradigm. What else needs to be taken into account for an individual 0-5 years of age?

One of the biggest gaps we’ve got is the lack of a solid “diagnosis roadmap” for parents raising a child with skeletal dysplasia and for those of us trying to navigate life as we grow older. Not everyone is lucky enough to be part of the Little People of America (LPA) or have access to their resources. And let’s be real—not everyone has the privilege of being seen or treated by the top-tier doctors on the medical advisory board. Enter these newly acquired domains.

Yes, these websites are owned by pharmaceutical companies researching achondroplasia. But guess what? They also serve as critical platforms for those of us who need legit information, access to the latest treatments, and guidance from world-renowned skeletal dysplasia experts. These are the resources that help parents make smart decisions, support kids as they grow, and help adults navigate the unique challenges that come with living with achondroplasia. It’s not all doom and gloom, folks.

Let’s be clear—nothing like this exists elsewhere. These resources, while not perfect, are being developed with input from people living with achondroplasia, parents of children with achondroplasia, and experts who eat, sleep, and breathe this stuff. They’re not just about “treating” achondroplasia; they’re about giving us a roadmap for living our best lives.

These websites offer something we’ve been seriously missing: a go-to place where families and individuals can find information that’s relevant, up-to-date, and actually useful for our specific needs. It’s not about shoving a medical agenda down our throats; it’s about creating a space where our community can find the support and info we need to thrive.

We need to be mindful of how these resources are used and developed, absolutely. But let’s not throw the baby out with the bathwater. These platforms have the potential to be transformative, offering a level of access and information that simply hasn’t been available before. As advocates, it’s our job to ensure that these resources continue to reflect our voices and our experiences, not just the interests of the companies that own them.

So, let’s engage, let’s contribute, let’s work together and let’s shape these resources into something that truly serves our community. After all, who better to help guide the narrative than us?

And if you are one of the few people with achondroplasia who has gone through life with ZERO medical issues… I am jealous and congratulate you on this accomplishment. I’m also going to warn you that things can take a turn when you least expect it and to be ready. Now, sit down and allow those who want to be educated, prepared and take advantage of this valuable resource show their gratitude and share the joy with the rest of the community.

Thank YOU to BridgeBio and the QED Team for facilitating this project. These little legs are so grateful to join you in your advocacy efforts.

Mic drop.

**These are MY (Kristen’s) OWN thoughts, words and opinions and the purpose of the post is to shift perspectives to view efforts being made to help our community through a POSITIVE lens.**