A Rollercoaster Beginning

Elodie arrived peacefully on her due date via water birth (how wonderfully appropriate for a ReNU baby!). What began as a calm and joyful moment quickly turned into concern. It wasn’t long before unfamiliar medical terms were being quietly exchanged between midwives and doctors. From the very beginning, Elodie was an unsettled baby and feeding became an immediate and overwhelming challenge. She couldn’t latch when breastfeeding and wouldn’t take a bottle either, leaving us desperate and exhausted. As first-time parents, we knew something wasn’t right, but the hospital support we so desperately needed just wasn’t there.

At three days old, Elodie was finally diagnosed with a cleft palate. This had developed during pregnancy and was making feeding not only difficult, but exhausting for her. We thought we had an explanation for Elodie’s difficulties, but it was only the beginning. Concerns quickly turned to whether her brain had developed properly. What followed was a whirlwind: brain ultrasounds, MRI scans and the discovery of multiple brain abnormalities. Though her cleft palate was initially our biggest concern, it quickly became clear it was just one piece of a much more complex puzzle.

Once home, Elodie continued struggling to gain weight and was labelled “failure to thrive.” However, during the first COVID lockdown, a simple diet change eradicating broken down milk protein brought a turning point. Her constant crying eased, she began to smile more and finally started to sleep, which brought enormous relief.

Despite this, Elodie missed key developmental milestones. She wasn’t crawling, babbling, or pulling to stand like other children her age. Then, at 13 months old, she had her first seizure. Just two days later, our tiny Elodie endured 15 seizures lasting several hours, requiring emergency treatment and her first stay in a High Dependency Unit (HDU). This was the start the of her epilepsy journey adding yet another layer of her growing medical complexity.

A Million Appointments
Over time, Elodie’s care became all-consuming. We juggled countless medical appointments, therapies and hospital visits. At one point, over 16 different specialists were involved. Managing it all became a full-time job in itself. We were thrust into a world of complex medical language and had to quickly learn to navigate systems, advocate for her needs and absorb more information than we ever thought possible.

From Undiagnosed to ReNU
Despite extensive genetic testing, we were left without a diagnosis. Our geneticist believed there was a gene behind Elodie’s challenges, but science simply hadn’t caught up yet. We joined the SWAN (Syndrome Without A Name) community and waited. Then, in 2024, just before Elodie’s fifth birthday, we finally received a diagnosis: ReNU syndrome. It brought both relief and a new sense of direction. We were no longer alone and found a small but growing group of families like ours, beginning to build community, share knowledge and raise awareness together.

Importantly, the diagnosis didn’t change who Elodie is. She’s still the same vibrant, cheeky, loving girl, but it helps us understand her better, anticipates her needs more clearly and gives us a clearer path forward.

Life with Elodie Today
We’ve learned to celebrate inchstones rather than milestones with every small step forward feeling hard-earned and meaningful. Elodie has taught us patience, resilience and how to find joy in the smallest of moments.

She may be non-verbal, but Elodie has no trouble making herself heard and her determination to connect with others is remarkable. She uses a photo-based AAC communication book to let us know what she wants (usually snacks!) and we use Makaton signs to support her understanding. Although non-verbal, she consistently uses one word “Huh Duh” which is reserved for her absolute favourite: Hey Duggee. Still, not being fully understood can be incredibly frustrating for her. It’s heartbreaking to see her in distress, trying so hard to communicate, while we do our best to piece together what she needs.

Today, her seizures are most often triggered by sleep: either falling asleep; waking up; or being overtired. We sleep with one ear open every night, listening for the smallest sound and live with ongoing anxiety around her sleep. The fear of missing a seizure never really leaves us.

Life with ReNU syndrome is both beautiful and exhausting. As parents, we juggle work, hospital appointments, therapy sessions, endless paperwork and the emotional toll of complex care. And the truth is, Elodie’s strength gives us strength. Her joy is infectious, her resilience is inspiring and her cheeky smile can brighten even the hardest days. We don’t know what the future holds, but we know we’ll face it together with Elodie leading the way, just as she always has.

Lucy Bartlett