Owning What Makes Us Rare
By Becky Tilley
Mine and my children’s diagnoses for Koolen-de Vries syndrome were a bolt out of the blue. I could never have seen it coming. At first, I was weighed down by a blameless guilt that made me question everything. Guilt for something I had no control over. Guilt that my children would carry something I didn’t even know I had. It took time, a lot of therapy, and a journey through grief and healing to finally let go of that guilt and make peace with our reality.
I didn’t just make peace with it. I embraced it.
Not only for my own sake but for the sake of my two rare and remarkable youngest children. Children who, like me, would grow up in a world that isn’t always kind to those who don’t fit the mold. Children who might struggle with things that seem so simple for everyone else. Things like processing information, navigating social situations, or grasping concepts that others breeze through without effort. I knew those struggles all too well, and I couldn’t bear the thought of them walking through the same lonely paths I did.
A New Diagnosis
In December 2024 another layer of my journey unfolded: I received an additional diagnosis of ADHD. I thought I had already built a strong sense of identity through my neurodivergent journey, but this diagnosis hit hard. Harder than I expected.
Koolen-de Vries helped explain the learning difficulties, the social challenges, and the feeling of always being one step behind. But ADHD gave me a new understanding of why I struggle to focus, why my emotions sometimes run the show, why organizing my life and completing daily tasks can feel impossible. I felt exposed. Like someone had handed me a mirror that only showed my struggles and told me to make sense of it all. It hasn’t been easy. There have been days I’ve cried from exhaustion, from overwhelm, from trying so hard to function when my brain just won’t cooperate.
But I’ve learned something powerful. ADHD and KDVS are not my fault. But they are my responsibility. And that’s where I’ve found my strength. In owning them. In showing up anyway.
So I shifted. Radically. I changed how I saw being different. I stopped seeing it as a problem to fix and started seeing it as a powerful part of who we are. I got to work on rewriting the narrative, not just for me, but for my kids. I embraced what made each of us unique and began walking forward with courage, resilience, love, and full acceptance.
A New Way of Navigating the World
I’ve created systems that help me function. I have a daily list stuck on the fridge that brings order to the chaos. I include everything that I know helps me thrive—movement, community, time with my kids, fresh air, nourishing food, rest, creativity, and connection. I’ve started exploring new ways to get the support I need so I can keep showing up not just for them, but for myself too.
If I didn’t want my children to grow up feeling like the misfit I once did, I had to show them how to own what makes them rare. I had to stop hiding. I had to stop apologizing. I had to model what it looks like to accept your whole self and hold your head high.
Writing my Thrive Rare book gave me a voice and a place in the world I never thought I’d find. I’ve created and joined communities of others who are just like us—figuring out how to thrive in a world that wasn’t designed for us. A world we’re choosing to show up in anyway, fully ourselves, and finding ways to shine.
My children are already becoming who they were meant to be. They have their own passions and interests and express themselves in such beautiful, unique ways. I get emotional just watching them thrive in their own time, on their own terms. They are not defined by their diagnosis, and neither am I. It’s not something that holds us back. It’s something that reminds us of our resilience.
We all deserve a thriving life. A strong, purposeful, healthy, joy-filled life that reflects who you are, not in spite of your differences, but because of them. Your voice and presence in this world matter, always.
Latest from Know Rare
Discover the latest treatments for IgA Nephropathy (IgAN), a rare kidney disease. Learn how current medications and emerging therapies work to slow progression, reduce proteinuria, and protect kidney function.
Discover how patient education empowers individuals with rare diseases to better understand their diagnosis, make informed decisions, and actively participate in their treatment plans. Learn why clear, compassionate communication is key to improving outcomes in rare disease care.
A heartfelt mother’s account on five years of navigating pediatric specialist waiting rooms with her medically complex child.
A powerful personal journey through Koolen-de Vries syndrome, ADHD, and neurodivergent parenting. Discover how one mother turned diagnosis into empowerment, embracing difference, healing guilt, and raising resilient, remarkable children in a world that doesn’t always understand.
Toni Roberts lives with Epidermolysis Bullosa, a rare genetic disorder that causes the skin to be extremely fragile and prone to blistering and tearing. Toni’s condition profoundly impacted her older sister, Cady Ward. Witnessing Toni’s daily struggles and challenges, Cady was inspired to become an advocate for rare disease and take on an extraordinary challenge—run an ultra-marathon.
Dr. David Fajgenbaum was in his third year of medical school when a rare and mysterious illness derailed his plans. Crushing fatigue, abdominal pain, and multiple swollen lymph nodes progressed rapidly, and he found himself in the ICU with multiple system organ failure. Recovering from the brink of death, he was diagnosed with Castleman disease (CD), a rare condition that at the time was thought to be a lymph node disease with similarities to cancer.
Learn about Dr. Rohit Aggarwal’s efforts in creating more centers of excellence for myositis, as well as educating, empowering, and connecting patients to clinical trials.
Recognizing the need for an effective way to treat becker muscular dystrophy, researchers have been studying the cause of muscle loss, and ways to stop it from happening.
After his diagnosis of limb-girdle muscular dystrophy type 2B at age 21, Chris initially opted for a safe career path, choosing jobs with steady income, benefits, and predictability. However, this decision made him feel like something was missing. Find out how Chris was finally able to follow his heart, finding purpose and contentment in becoming a writer.
Learn more about CureGRIN, founded in 2018 by parents of children diagnosed with GRIN Disorder to help find cures and therapies for people around the world suffering from these conditions.
Learn about the incredible story of Edward Gent, a Sports Nutritionist diagnosed with MMN, who decided to create an app to help others worldwide with their disease and symptom management.
Find out about 7 research areas identified as priorities in Sickle Cell Research and about a sickle cell disease drug, which was originally approved for treatment, that has been taken off the market.
It’s no secret that it is difficult to get to a pain medicine specialist. There are just so many people in pain who cannot find relief, and are looking for help. Learn about Bliss Health, which provides access to pain management services through virtual consultations, through a dedicated team of medical professionals who specialize in the diagnosis, treatment, and ongoing management of various types of chronic and acute pain conditions.
There are over 50 million people in the United States that live with chronic pain. However, researchers studying pain have learned something important: perception of pain is personal, and may have more to do with other factors than just the physical cause of the pain.
If you are coming across high copays and struggling to afford your treatment plan, here are a few options that may help you reduce the costs of your medications.
At age 15, Becca Salky became her own medical detective, playing a key role in uncovering her diagnosis. Now, as a Clinical Research Coordinator at Massachusetts General Hospital, she focuses on spreading awareness about MOG, finding better diagnostic tools, leading clinical trials, and fighting gender disparity.
On the “Rare Insights” podcast we bridge the gap between those living with rare diseases and the biopharmaceutical industry.
Why Men’s Health Week (June 10-16) matters for the Rare Community, and how you can take part.
June is Pride Month, and at Know Rare, we are committed to celebrating the rich diversity within the rare disease community.
Journalist Lindsay Guentzel describes navigating a diagnostic odyssey and how she manages day-to-day life with myositis in an impactful webinar.
When you live with a rare disease, the joyful experiences risks can bring are all the more valuable.
This summer, NMOSD and MOGAD patients, caregivers, clinicians, nurses, researchers, and advocates are invited to join The Sumaira Foundation at Emory for TSF's Atlanta Patient Day.
Know Rare writer Gina DeMillo Wagner’s new memoir, Forces of Nature explores powerful themes related to caregiving and rare disease.
Journalist Lindsay Guentzel offers an inside look at life with the rare muscular condition.
This May, Know Rare is shining a light on myositis, a group of rare autoimmune muscle diseases that can have profound effects on daily life. This is an important time for the myositis community and the rare disease community at large: a time to share stories from those living with the condition, share more information about the current state and future of the disease, and advocate for better treatments that will ultimately enhance the quality of life for those impacted by it. Whether you're a patient, caregiver, or advocate, join us in raising awareness and supporting those affected by myositis.
Author Chris Anselmo explains why being mindful of your pace can have major benefits for your health and well-being, and offers some tips to help.
