Katie has hypertrophic cardiomyopathy. Here she tells her story.

Katie first thought something was amiss when she started waking up in the night feeling like her heart was racing. She went to her GP, who encouraged her to visit A&E.

“I thought it was a bit over the top, but I did as I was told!”

A&E did a series of tests on Katie and with one result outstanding, they sent her home. Later that day, they called asking her to come back straight away.

“That’s when it got scary. They kept me in hospital for several weeks and I became really unwell. Tests revealed I had hypertrophic cardiomyopathy.”

Hypertrophic cardiomyopathy is a genetic condition that causes the walls of the heart chambers to thicken which means the flow of blood through the heart can be obstructed. In some cases it can trigger abnormal heart rhythms. It’s caused by a change in one of more genes and can be passed on through families.

“All I heard was the word ‘genetic’. In that moment, my only thought was for my children and what it would mean to them. I didn’t listen to anything else, and I had to get them to write everything down.”

Katie had an ICD fitted which is a miniature defibrillator to prevent any further abnormal heart rhythms.

Back home, Katie felt very alone.

“I started to worry about my kids, my sister, my parents. I felt very lonely. All I had was a piece of paper which would trigger genetic testing for my whole family.”

Thankfully, Katie discovered a local support group in Brighton run by cardiologist Tommy Alway and Cardiac Nurse Jo McQueen.

“For the first time, I was with other people who had cardiomyopathy too. I shared my story and got very upset. Afterwards, the nurse Jo stayed behind and that’s when everything changed for me.”

As a cardiac specialist genetic nurse, Jo was able to reassure Katie and helped co-ordinate genetic testing for her entire family despite them living in different parts of Sussex. With Jo’s support and guidance, all three of Katie’s children will have genetic testing.

“My eldest son Michael is only 23 but he’s already had a few funny turns. Genetic testing has revealed that he too has the same genetic change as me and has hypertrophic cardiomyopathy.”

Katie’s two children, her sister and both her parents are also now awaiting genetic testing thanks to Jo’s help and guidance.

“It’s unimaginable to think how we would have navigated this complex process and pathway without Jo’s support. It’s a very complicated and all we had was a letter but no idea what to do with it. Thanks to Jo, Michael now has a diagnosis and can start to get the care that he needs.”

The specialist service means that all the family are now seen by a single cardiologist who can build a complete family history which is vital in genetics. Without Jo’s help, they would have been treated separately and their care disjointed.

“Every time one of us is admitted to hospital, Jo and our cardiologist Tommy, are able to join the dots and ensure our medical team always have the full picture of our genetic diagnosis. Without that complete picture, doctors would be in the dark about what treatment we need. The ongoing support, information and guidance that Jo has been able to offer us since our diagnosis has been invaluable.”

The family are very grateful for the service they have received from the cardiac specialist nurse role.