In the midst of 2020, 23-year-old Jess found herself with some unusual chest pains that she put down to going through her first COVID-19 lockdown. With the pain becoming severe, she made her way to our ED where scans showed cardiologists what Jess wasn’t expecting. Read her story below.
"In mid-2020, I attended the Emergency Department with severe chest pain. As a 23-year-old with no prior medical conditions, I assumed that this was a response to the stress of going into Melbourne’s first COVID lockdown. After scans showed inflammation, scarring and structural changes to my heart, however, cardiologists suspected an inherited heart condition and referred me to the RMH’s Genetics Clinic for genetic testing and counselling.
With no prior knowledge of genetic heart conditions in my family, the possibility of having an inherited condition was overwhelming and difficult to comprehend. The genetic counsellors I saw at RMH were warm and supportive and made sure that I understood the process of genetic testing and prepared me for what different results may mean for me.
Although it was difficult receiving the news that a fault in my DSP gene had been identified, confirming a diagnosis of Arrhythmogenic Cardiomyopathy, I felt deeply supported by my genetic counsellor. The hardest part of receiving this news was thinking about the impact that this may have on my family. My genetic counsellor explained the likelihood of my family members also sharing the gene fault and assured me that my family would receive the same high-level of support from RMH genetic counsellors.
I am deeply grateful for the genetic counsellors who have supported my family and I throughout this process. I have a strong understanding of what having a gene fault means for me and I feel confident in making informed medical decisions. I attribute this to the exceptional care I that have received from the genetic counsellors at RMH."