Baby Jack on his PPFIBP1 journey…

Help Us Support Baby Jack – Our Little Fighter

Hi, my name is Amanda. I’m a proud mum to four beautiful children — and I want to share the story of our youngest son, Jack.

Jack was born in July 2024, and at just 9 weeks old, he was rushed into intensive care after a life-threatening seizure. Genetic testing later revealed a devastating diagnosis: Jack has a rare mutation of the PPFIBP1 gene, which causes drug-resistant epilepsy, global developmental delay, and blindness.

There are only 15 known cases of this condition worldwide, and Jack is the only known child in the UK with it. There is no treatment, no roadmap — just uncertainty and constant worry.

Since his diagnosis, we’ve spent over 50 nights in hospital. Jack’s epilepsy remains uncontrolled. He suffers from prolonged seizures, relies on a feeding tube, and requires 24/7 care. He is unlikely to ever walk or talk. To try and reduce his seizures, we are now beginning the Ketogenic diet, and every night we hook Jack up to a monitor due to the terrifying risk of SUDEP (Sudden Unexpected Death in Epilepsy).

We are doing everything we can to give Jack the best possible life, but the emotional, physical, and financial toll has been enormous.

In July 2023 — just a year before Jack was born — his dad, Nick, suffered a stroke. He underwent heart surgery in May 2024 and still battles daily fatigue. While he’s always been the one to do work around the house, he now juggles a physically demanding job just to keep a roof over our heads, while trying to recover himself.

I’ve had to give up my career in Social Services to care for Jack full-time. We’ve always worked hard to support ourselves, but now, we are stretched to our limit — emotionally, physically, and financially.

We are fundraising to give Jack the support, comfort, and environment he needs — and to relieve some of the growing pressure on our family. Your donations will help us with:

• A specialist pushchair and P-Pod (NHS waiting lists are long, and Jack urgently needs proper seating)

• A sensory room in Jack’s bedroom to stimulate his development and calm his senses

• Finishing home renovations (plastering and flooring) to create a larger, accessible living space for Jack’s equipment

• A bigger car to safely transport Jack and his specialist equipment

• Travel costs for frequent emergency hospital admissions

• Special treats and days out for Jack’s siblings, who are incredibly strong but feeling the emotional strain

The emotional weight on our family is immense. Every day is a battle — balancing medical emergencies, sleepless nights, financial stress, and the heartbreak of watching our baby boy suffer. But despite everything, Jack is always smiling. His joy is infectious. His strength inspires us. And we are determined to give him a life filled with love, happiness, and dignity.

If you are able to help — in any way — we would be so deeply grateful. Your kindness will directly impact Jack’s quality of life, and help our whole family breathe a little easier as we continue this incredibly tough journey.

Thank you for reading our story and for supporting us with love, generosity, and hope.