Edie was born on the 25th of September, 2023. She was taken straight to the Special Care Nursery due to low muscle tone and needing CPAP support. She also had trouble latching and feeding. After an oral examination, the team discovered that Edie had a cleft palate — something that had been completely missed during pregnancy scans. It was such a shock to us.

 

Over the next few days, Edie was weaned onto pigeon cleft bottles, and after five days in Special Care, we were discharged home. We were quickly linked in with the cleft team, and it was confirmed that Edie had a cleft palate, along with Pierre-Robin sequence. She also had prolonged jaundice and slow weight gain, and a micro-array genetic test was arranged to start investigating further.

 

When Edie was two months old, we had our first hospital admission. She had a virus and was becoming dehydrated, struggling with her feeding. An NG tube was placed to help her, and thankfully we were able to return home after she regained some strength. At around 15 weeks old, Edie was admitted again after a febrile illness caused a simple febrile convulsion at home. During her admission, doctors also noted strabismus (eye turning) and some possible seizure-like activity, but no firm diagnosis was made, and we were sent home.

 

Over the next few days, I became more and more concerned. Edie was having twitching and jerking episodes, and even though we were reassured it was “startle reflex,” my instincts told me something wasn’t right. After feeling dismissed locally, I contacted our cleft palate nurse at John Hunter Hospital. She walked straight to the paediatric neurology team with videos I had taken, and they organised an urgent EEG for Edie. That EEG confirmed what I had feared — Edie was diagnosed with myoclonic epilepsy.

 

She was started on her first anti-epileptic medication, Phenobarbital, and underwent further testing, including metabolic screens and an MRI (which came back normal structurally). At six months old, Edie’s seizures worsened dramatically, sometimes having between 100 to 200 myoclonic seizures a day. At seven months old, after catching COVID, Edie completely lost her ability to safely swallow feeds. A speech therapist confirmed she was no longer safe for oral feeding, and a permanent NG tube was re-inserted. During this hospital stay, we also received the results of her more detailed exome sequencing. It was then we learned that Edie had a CRELD1 mutation, linked to an ultra-rare syndrome now known as Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS).

 

Edie became the first child in Australia diagnosed with this condition. Today, Edie is thriving in her own beautiful way. Despite her many challenges with epilepsy, feeding through a PEG-J tube, developmental delays, and complex medical needs she continues to show us what true resilience looks like. She communicates through her expressions, her love of music, and her joy when she hears her big sisters’ voices. She is the brightest little light in our world, and being her family is the greatest honour. We are proud to stand beside her as she bravely faces each day. Our tiny but mighty warrior.

 

To any other families navigating the world of rare conditions please know you are not alone. When Edie was first diagnosed, the unknown felt overwhelming. But as time has gone on, we have found strength in the smallest moments and hope in the people who walk this journey with us. There is no “right way” to cope, to grieve, to celebrate, or to advocate — you are doing an amazing job.

 

Our children are warriors, and so are we. Please reach out, connect, and know that there is a whole community standing beside you.