From parties to carol singing: Ruby's first Christmas at GOSH

What comes to mind when you’re asked to think of a zebra? You might envision a black-and-white striped animal, roaming the grassland, or maybe even the character of Marty from the movie Madagascar.

For mum Elle and dad Steve, the zebra is an incredibly important symbol – an international symbol for rare disease. “We’d love it if people saw the zebra, knew what it was and would wear a striped badge like you do a pink ribbon for breast cancer awareness,” Elle says.

They’re passionate about this cause because their daughter, Ruby, was only a few months old when she was diagnosed with PMM2-CDG, a rare genetic condition that can cause a range of symptoms, from motor development issues to liver disease.

Ruby’s journey began soon after she was born, with local midwives flagging that she wasn’t putting on weight. Elle and Steve took her to the hospital nearby, where doctors ordered lots of tests, including an echocardiogram.

“I’d never seen an ‘echo’ before, but I remember looking at the screen and knowing that something wasn’t right,” Elle says. “I could see Ruby’s heart, tiny and surrounded by a black mass. It was a really scary moment.”

Ruby had pericardial effusion, or fluid around her heart. That’s when she was referred to GOSH, arriving with her family just before Christmas 2023.

There, the fluid was drained straight away, and once Ruby was stable, different specialists came to see her and run more investigations. A genome sequencing test revealed PMM2-CDG.

“Ruby’s diagnosis was such a shock,” Elle says. “I was looking at my tiny baby, and it felt almost like she’d been taken away from me. There was grief there, because you have an idea of how something is, and then you have to accept how things actually are.”

Ruby spent a few weeks at GOSH, before being discharged in January 2024. She and her family went home, but things started to deteriorate when Ruby came down with Covid-19 and a second virus. After four weeks at a local hospital, she returned to GOSH.

Elle says the Play team and GOSH Arts, which are funded by Great Ormond Street Hospital Charity (GOSH Charity), were lifesavers. At their core, these teams help make hospital a bit less hard and a lot more fun for patients and their families.

“Ruby could be having a rubbish day, but when Jodie, the Play specialist, appeared, she’d turn the whole day around,” Elle says. “She turned the day around for me too. The Play team’s support makes you feel like you’ve got friends in the hospital.”

During her stays at GOSH, Ruby also enjoyed music therapy sessions, which Elle says were fantastic. Their family benefitted from other support as well, including meal vouchers and vouchers for breastfeeding mothers, which are provided by GOSH Charity to help ease the financial burden for parents with a child in hospital.

In addition to daily play and regular activities, celebrations and holidays were a big source of comfort to Ruby’s family. While at GOSH, they celebrated birthdays, Mother’s Day, Father’s Day, and Christmas. The hospital’s staff go above and beyond to make those days special, Elle notes.

“The teams at GOSH do a really good job at Christmastime,” Elle says. “Last year, we took Ruby to a special party for patients, and we went to hear some carols too. And when Ruby had her first birthday, Gunnersaurus, the Arsenal FC mascot, came to the ward to celebrate.”

Elle and Steve are going above and beyond too, in their mission to raise awareness about rare disease. Along with a handful of other parents, they’ve set up an organisation called GO RARE.

“Before Ruby, I didn't think about rare disease. I didn't know anything about it,” Elle says. “I don't want people to feel sorry for my family, but I do want to give proper recognition to families who are also dealing with rare disease.

“Everyone deserves a chance at a full life. Just because someone has a disability or is medically complex, doesn't mean that they should be overlooked or pitied.”

Earlier this year, Ruby had a liver transplant with Elle as her donor. They're planning to spend Christmas at home together this year.