Rare Disease Day: Jessica's story

As part of this year’s countdown to Rare Disease Day, we’re sharing Jessica’s story.

Jessica is thirteen years old and lives with myasthenia gravis, a rare long-term condition that causes muscle weakness. It affects 15 in every 100,000 people living in the UK.

Jessica is a patient at GOSH and is taking part in a clinical trial at the NIHR GOSH Clinical Research Facility.

Jessica said: “I still remember the day I first went to hospital. I went camping with my friends and I was really struggling to walk. My mum's friend is a nurse, and she noticed the way I was walking just wasn't right. She advised my parents to take me to the nearest hospital immediately. For weeks, doctors had no idea what was wrong with me until one suggested myasthenia gravis. I had a test done to me and it turns out they were right.”

Jessica’s strength began to decline, and she eventually couldn’t walk and started to use a wheelchair. She was having problems swallowing and chewing and her Mum had to help her with her personal care.

About three months after being diagnosed, she had a thymectomy, an operation that involved removing her thymus gland, where the doctors believed the autoantibodies which were fuelling her condition were created.

Unfortunately, the operation failed to stop the decline of the condition. At this point Jessica was using a wheelchair full-time and missing a lot of school. She was very weak, and couldn’t stand without falling, let alone walking or using the stairs.

A year and a half later, Jessica was referred to a different hospital who told her about a clinical trial happening at GOSH for children with myasthenia gravis.

Jessica said: “We joined the trial in November 2023, and after the first few doses, I felt a huge change in my strength and ability. After being on this medication for over a year now, I'm a completely different person.

“This trial has given me the ability to do so much. I'm no longer using a wheelchair, and I'm even doing PE at school. I can do all of my personal care and live a very near normal life. I still take regular medication and still get days where I'm feeling really weak or just can't do PE one day or have to miss a day of school. But that's expected with this condition and will look different for everyone.

“Having a rare disease can be challenging and very frustrating, but it's important to remember to stay resilient and know you're not alone.”

We want to thank Jessica for sharing her story!

Caterina Bigi, Senior Research Nurse in the CRF said: “It is a pleasure looking after Jessica and her beautiful family. It is a privilege to have experienced the big impact that the trial had on her daily life."

Louise Wall, Research Co-ordinator in the CRF said: "Working on a clinical trial like this is a huge team effort. There are the clinical team that Jessica and her family will see at their visits but behind the scenes, we have a whole delivery team making sure that the trial is run safely and smoothly. It's wonderful to know that Jessica and her family have had such a positive experience of research at GOSH.”

Throughout the month, we've been sharing stories from other patients and staff to highlight advancements in care for rare disease and celebrate the people who make it possible. Find out more about the day and how you can get involved.

Did you know that GOSH has a Young Persons' Advisory Group (YPAG) for research? Children and young people aged between 12 and 21 are welcome to join us to help shape child health research at GOSH and beyond. Email us at research.ppi@gosh.nhs.uk to find out more.