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28th February 2017

Better late than never: a rare heart condition discovered

Rare diseases are tricky. Just ask Becky Scheffe, who waited 20 years to get a proper diagnosis for her Long QT syndrome, a heart condition that only affects about one in 7,000 people.

It all started when Becky was 17. “I had a terrible experience as I went to bed one evening and had my first seizure. It was so terrifying, I thought I was dying. The doctor was called but he suggested it was a panic attack,” she tells This Is Medtech. A friend who had seen the whole episode said that Becky had fallen out of bed while convulsing, thrashing around and arching her back, with her eyes rolling back.

“I can only describe the feeling like I was dreaming which stopped abruptly by manic, loud, distorted noises and the feeling of being pushed, pulled and falling all at the same time.  When I eventually came around I was very confused and unable to speak for a while,” she says.

This was the first of many seizures in the years to follow, leading doctors to diagnose Becky with nocturnal or “night time” epilepsy because they only occurred at night. “They usually came in clusters which was horrible as I would worry about having one, and stress and sleep deprivation would bring them on,” she explains. “I would never sleep in a house alone and I dreaded going to bed every night. I cracked my head and teeth a couple of times and chewed my lip so it was swollen and bruised,” she recalls.  Sometimes she would also have a migraine straight afterwards, resulting in blurred vision, headache, numbness and sickness.

However, Becky’s epilepsy medication didn’t stop the seizures, and after having a particularly severe cluster of seven over three days, a neurologist finally referred her to see a cardiologist.  She had an electrocardiogram to test her heart’s rhythm and electrical activity, after which doctors decided to insert a device under her skin that would monitor her heart activity 24/7 for up to three years.

After two and a half years, she had another seizure and the device picked up a very fast abnormal heart rhythm, known as an arrhythmia. This led doctors to make the diagnosis of Long QT syndrome, a condition that causes a disturbance in the electrical system of the heart, while the mechanical function can remain completely normal.

When this arrhythmia occurs, the blood is pumped out of the heart and the brain quickly becomes deprived of oxygen, explains the UK charity Arrhythmia Alliance. This can result in a loss of consciousness and very occasionally death. “Being diagnosed 20 years later was such a relief but also a shock that I had survived when others had not,” comments Becky.

Within a few days, she had an implantable cardioverter defibrillator (ICD) fitted to monitor her heart rhythm and deliver electrical impulses to correct any potential problems. She was also prescribed heart medicines for life. Since then, there have been some complications, but she remains focused on the positive. “Having had these experiences I think it has made me appreciate life and cherish every day,” she says.

“I have a great quality of life, I got married three years ago and we are lucky to have a gorgeous son who is six months old, who unfortunately has inherited the Long QT so he is currently on a liquid beta blocker.  I just hope that he won’t have to go through any trauma and get to live life to the fullest!”

In the EU, as many as 30 million people may be affected by one of over 6,000 existing rare diseases. But relatively common symptoms can hide these diseases, often leading to initial misdiagnosis like Becky’s. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

Rare Disease Day, which falls on the last day of February every year, is organised by the European patient-driven alliance EURORDIS and aims to raise awareness around the world. This year’s theme is “research”, which can lead to the identification of previously unknown diseases and increase understanding of diseases, bringing hope to millions of people living with a rare disease as well as their families.