Koolen-de Vries Awareness Day

The Tilley Family’s Journey of Love, Resilience & Advocacy

Editor’s Note: In recognition of Koolen-de Vries Awareness Day, we’re honored to share this personal story from one of our adult advocates and parents. Every family’s journey with KdVS is unique, and stories like these help raise awareness, build understanding, and remind our community that no one walks this path alone.

Each year on July 17, our family joins many others around the world in recognizing Koolen-de Vries Awareness Day. It’s a time to celebrate our incredible community, raise awareness, and share the stories that connect us.

As Kool families, we navigate many challenges—physical, medical, emotional, and developmental. But those challenges don’t define us. We’re also known for our biggest, brightest smiles, contagious laughter, fierce determination, and beautiful resilience as we live, love, and learn in our own rare and wonderful ways.

Our Kool Story Begins

Our journey into the Kool community came after 14 months of waiting and wondering. My husband and I finally received an answer to the struggles our newborn son, Josh, had been facing. Our geneticist emailed to say that Josh had received a diagnosis—one that explained why he was born with hypotonia (low muscle tone).

The diagnosis came as a complete surprise.

He had endured so many tests after a very tough start in life: 34 days in the NICU with severe jaundice, floppy limbs, and feeding difficulties. Despite everything, he was already thriving in his own rare and wonderful way.

Josh had speech and language delays, but he babbled away happily with the biggest smile. At 14 months, he was walking—an incredible answer to prayer. During lockdown, we received home visits from a physiotherapist and did daily exercises to build his strength and mobility. No progress was too small to celebrate; every step forward was a victory worth cheering.

The Surprise Diagnosis

At the time, I was four months pregnant with our third precious baby. As I braced myself for my own diagnosis, the biggest surprise came when I learned that our son had inherited Koolen-de Vries syndrome (KdVS) from me.

I’ll never forget hearing the words “Koolen-de Vries syndrome” over the phone. Not only did Josh have KdVS—I did too.

We were the first family in the UK to be diagnosed using trio genome sequencing, and it was the very last test available to us. It involved three blood samples—one from me, my husband, and Josh. The results were analyzed together and confirmed that both Josh and I carry a KANSL1 gene mutation causing KdVS.

Because our unborn daughter, Avary, had a 50% chance of inheriting KdVS, I received extra monitoring, including additional scans and MRIs. One MRI showed enlarged ventricles in her brain, but thankfully they settled down to a healthy size during the pregnancy.

After she was born, Avary was spared the NICU stay and NG tube her brother needed—an enormous relief. Like Josh, she was diagnosed with hypotonia and needed physiotherapy.

Today, I’m grateful to say both children are thriving—active, energetic, and full of joy.

Early Challenges & Hospital Visits

As babies and toddlers, both Josh and Avary struggled with viral infections during winter—especially severe croup and one bout of pneumonia. They also faced difficult bouts of sickness and diarrhea that sometimes required hospital drips for hydration. We made many trips to A&E and the children’s ward.

At every visit, I made sure to explain their KdVS diagnosis and hypotonia. Although many healthcare professionals had never encountered KdVS before, they took the time to learn about it, listened to our concerns, and provided thoughtful, compassionate care. I’m so grateful for that.

To every Kool parent reading this: You are your child’s greatest advocate. Never hesitate to speak up for the care they need and deserve.

Thankfully, now at ages six and four, their hospital visits have become far less frequent. Overall, they are happy, healthy, and making wonderful progress.

Support, Education & Thriving

Both children share speech and language delays, but they are progressing beautifully. Like their mum, they’re eager to communicate. We started with Makaton sign language and image boards to help them express their needs, wants, and emotions.

In the UK, the Child Development Centre has been an absolute lifeline—providing physiotherapy and speech and language therapists who do home visits, as well as support in nursery and school. The SEN (Special Educational Needs) support has also been excellent. Both children have individualized education plans tailored to their specific needs and developmental stages.

I was open about their KdVS diagnosis when applying for nursery and school. The staff and management have been incredibly supportive. At home, nursery, school, and church, Josh and Avary are welcomed, valued, and celebrated for the amazing, brave, and beautiful individuals they are. They are loving life and making incredible progress.

At church, I help lead an inclusion group for neurodiverse children. It’s a joy to support them as they learn and grow in faith in fun, engaging ways that build a strong sense of value and belonging.

My Own Journey as an Adult with KdVS

As an adult with a diagnosis of KdVS, ADHD, and anxiety, I’ve reached out for support to help me manage and thrive too. Like many others with KdVS, one of my greatest strengths is my friendly, cheerful, and sociable personality.

I faced many insecurities growing up. I was bullied and rejected in school and church as a child, and later in the workplace. Without answers, I believed I must be “stupid” because I learned at a slower pace and in a different way. It was extremely isolating.

Now, however, I fully embrace what makes us different. With faith, hope, and courage, I can say: God made us Kool and has a plan and purpose for each of us.

I’ve had therapy, taken anxiety medication when needed, and rely on a strong Christian faith that gives me hope, courage, and belonging. Although paid employment can be challenging due to slower processing, I’ve found deep purpose and joy through volunteering in church and sharing Jesus with the world through my digital ministry.

My Hope for the Future

My greatest hope for my Kool kids is that they will grow up confident and secure in how God made them. I want them to know they were created with love, purpose, and intention. They are infinitely loved—exactly as they are—by Jesus and by their family, always.

A Call to Advocate

To every individual and parent in the Kool community: please use your voice. Share your real-life experiences and needs with teachers, medical staff, family, friends, and church communities. The more we share and advocate, the less “unheard of” KdVS becomes, and the more seen, supported, and celebrated we all are.

Our Kool kids need us. Let’s advocate for them boldly and lovingly—always.

Awareness begins with conversation, and every story shared helps another family feel a little less alone.

Happy Koolen-de Vries Awareness Day! 💙

Written by: Becky Tilley

Adult Advocate, Parent, and Member of the Koolen-de Vries Community