Our Story

From the Beginning

Ellia is nine years old — sweet, funny, deeply affectionate, and one of the most engaging people you will ever meet. She is also a child who has faced extraordinary challenges from the very start of her life.

As a baby, Ellia cried almost constantly — for eight months. Her development was markedly delayed: she sat independently at nine months, crawled at eighteen months, and didn’t walk until twenty-six months. She was completely non-verbal. Despite my growing concern, I was repeatedly reassured that she was “fine,” that “all children develop at their own pace,” and that she would “catch up.” I had to push hard for every referral, every evaluation, every service — and time after time, the evaluations sadly confirmed she more than qualified.

I enrolled her in every therapy I could access: speech therapy, physical therapy, fine motor therapy, Integrated Sound Therapy, aquatic physical therapy, and equine-assisted therapy. For her first four years, our lives revolved around medical and therapeutic appointments. Through it all, we discovered something remarkable: although Ellia wasn’t speaking, she could communicate using sign language. I learned American Sign Language alongside her and enrolled her in a school for the Deaf. Signing seemed to unlock something in her — and gradually, speech followed. Today, she is quite the chatterbox.

The Hardest Years

When Ellia was two and a half, an MRI revealed that she was missing a portion of the white matter in her brain. The neurologist told us he believed she either had a progressive degenerative neurological disorder and would likely die before her fifth birthday — or that she would be profoundly disabled for life, unlikely ever to walk or talk. We spent over ten months waiting to learn that her condition did not appear to be fatal.

At age three, Ellia had her first seizure. It lasted five hours. Multiple neurologists and emergency specialists were unable to stop it, and she was placed in a medically induced coma in the ICU. Since then, her seizures have always been prolonged — never lasting less than ninety minutes — most often triggered by illness. This past year alone, we have spent significant time in the ICU. Because of this, Ellia takes extraordinary precautions: she wears a mask daily, must avoid certain activities and travel though she rarely complains. Her resilience is remarkable.

Diagnoses accumulated over the years: hypotonia, developmental delay, epilepsy, cortical visual impairment (CVI), autism, developmental coordination disorder. Whole Exome Sequencing showed no relevant findings. We were living with mounting answers to individual symptoms, but no unifying explanation — and no community. Having a child with an unnamed rare disorder is profoundly isolating.

Finally, an Answer

Years earlier, I had submitted our information to the Rare Genome Project at the Broad Institute in Cambridge. Whole Genome Sequencing initially revealed nothing. We continued on without answers.

Then, in April 2025, everything changed. Researchers identified a newly discovered genetic disorder caused by variants in a non-coding gene called RNU2-2. Ellia’s results showed a pathogenic variant in that gene. Suddenly, everything fit. It was clearly the correct diagnosis.

At the time of the first published paper, Ellia was one of only 25 known cases worldwide. Ellia’s life today is full — she dances, skates, sings, reads, rides horses, and lights up every room she enters. She also requires significant daily support. She attends a specialized school for children with moderate to severe disabilities, needs assistance with dressing and other daily tasks, and requires 24-hour supervision. Her medical needs remain complex and serious.

Within the international RNU2-2 community, her abilities are unusual — very few children with her form of the disorder can walk or talk at all. She has beaten extraordinary odds, and she continues to work hard every single day. When I think back to being told she would likely never walk or talk, I am grateful beyond words. And I am clear-eyed about how much she still needs, and how much work remains — for her, and for every family in this community.

Why ReNU2 United Exists

The isolation of raising a child with an undiagnosed rare disorder is something no family should have to face alone. For years, we had no name, no community, no roadmap. Now we do — and I am committed to making sure other families find theirs faster.

ReNU2 exists to connect families, support clinicians, accelerate research, and ensure that RNU2-2 is no longer overlooked. Currently, this disorder can only be detected through Whole Genome Sequencing — a test that most children with unexplained neurodevelopmental disorders never receive. Every family still searching for answers deserves the chance to find them.

I am deeply relieved to have found other families who understand this journey. I look forward to knowing you and your children, and to building something meaningful together.

About Laura Wilson

Laura Wilson is a Massachusetts-based marriage and family therapist and the founder of ReNU2 United. She founded this organization not as a scientist or a physician, but as a parent who spent years navigating a medical system that wasn’t built for children like Ellia — and who refused to stop looking for answers.

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My daughter’s name is Ellia — and she is, quite simply, a wonderful human.