A bright future - Nicole's story

Nicole has been attending Great Ormond Street Hospital (GOSH) since she was eight years old. Now 18, Nicole is moving on to adult services and has shared the story of her GOSH journey from the past 10 years.

“My name is Nicole. In 2006, when I was eight years old, I was diagnosed with Brugada syndrome – a rare, genetic heart condition that I’d unknowingly had since birth.

“Sadly, in 2002 my Uncle passed away from sudden adult death syndrome (SADS), which was related to Brugada syndrome. A few years later when I was seven years old, I was taken to the doctors with chest pain and heart palpitations – both of which are symptoms of Brugada.

“Understandably, due to our family history my mum was really scared that it could be something dangerous. As not many hospitals understood the condition, she decided it was best to write to our MP to get me transferred GOSH for further tests.

“For me it was a shock to potentially have a heart condition, as I’d never been in hospital myself. It was really worrying.”

Tests at GOSH

“Once at GOSH, I had lots of tests done such as ECGs and echoes. However, nothing was found.

“It wasn’t until I had an ajmaline provocation test that it became clear I had Brugada syndrome. The drug ajmaline was inserted into my blood stream to see how my heart would react to it on an ECG. I was incredibly scared, I didn’t understand the condition or the test that I was having and I was scared to be put under anaesthetic.

“The ECG I had when under this drug showed a clear Brugada pattern. Thankfully, the GOSH nurses put me at ease and made me feel comfortable. They even put a hospital band on my teddy’s wrist, too!”

Living with Brugada syndrome

“For a couple of years after the diagnosis, I suffered symptoms of Brugada, such as dizziness, intense chest pain and heart palpitations. Luckily I saw Dr Kaski every six months who put my worst fears to rest and made me feel safe and taken care of. Waiting for diagnosis was a very scary time for me and my family, but the nurses and doctors made us feel welcome and relaxed so I soon learnt the process for each time I visited.

“Unfortunately there are no treatments for Brugada syndrome, and the best thing to do is monitor it. If the condition was to take a turn for its worst, then there would be the possibility of having an ICD fitted into my chest.”

Looking forward

“I will always have Brugada syndrome and it will always need monitoring, but now I’m 18 years old, and the symptoms have decreased. I’m currently working full-time in digital marketing for a great IT firm in Kidderminster.

“Sadly, I’ve outgrown the hospital and I’m waiting to be transferred to adult services. I was incredibly sad to leave as I have been treated at GOSH for 11 years and have received fantastic care from the team. I can’t thank Dr Kaski enough for his research and care – he has been fantastic to both me and my family. It’s been a pleasure being a patient at such an exceptional hospital.

“If I was to give any advice to a patient or their family members, it’s to hope for the best but prepare for the worst. Be prepared to receive bad news – it is a hospital after all! But hope for the best, I did and my condition has got much better as I’ve grown up.”

Find out more about GOSH’s work with rare diseases, or donate now to help us treat even more patients like Nicole.