VEDS Research Study 2021

Exploring perceived barriers to diagnosis, treatment, and ongoing care in vascular EDS

Taylor Speziale

Taylor is a third-year Master’s student at Cardiff University studying Genetic and Genomic Counselling.

She was born and raised in Thunder Bay, Ontario, where she completed her Bachelor of Science majoring in Biology and minoring in Psychology at Lakehead University.

She became a genetic counselling assistant at the Thunder Bay Regional Health Science Centre where she gained experience working alongside a genetic counsellor in a general clinic seeing patients with a vast array of genetic conditions.

In her spare time she enjoys reading, mountain biking and hiking with her dog.

Charlotte Cowan

Charlotte is a third-year master's student at Cardiff University studying Genetic and Genomic Counselling. Previously, she studied at Dalhousie University in Halifax, Nova Scotia, Canada, where she graduated with a Bachelor of Science in Neuroscience with Honours.

While at Dalhousie, Charlotte completed her thesis on the effects of cigarette smoking on brain activity. She also worked as a summer student at Sunnybrook Health Sciences Centre in Toronto, Ontario, Canada, investigating genetic links between brain imaging and bipolar disorder.

Charlotte was born and raised in Toronto, Ontario, Canada. In her free time, she enjoys watching ice hockey. Her favourite team is the Toronto Maple Leafs.

Kaitlyn Johnston

Kaitlyn graduated from the University of Alberta with a Bachelor of Science specialising in Molecular Genetics and is currently in her 3rd year of her masters degree at Cardiff University studying to be a Genetic Counsellor.

She wants to use her passion for genetics and health sciences to better the lives of others.

She was born and raised in Edmonton, Alberta, Canada and spends her free time hiking and camping in the Canadian Rocky Mountains.

Lead researchers: Taylor Speziale, Charlotte Cowan & Kaitlyn Johnston, MSc Genetic and Genomic Counselling Students.

You are invited to take part in a research study conducted by MSc Genetic and Genomic Counselling students at Cardiff University as part of a dissertation project. We are conducting a questionnaire and interviews as part of a research study to increase the understanding of the barriers individuals with vascular Ehlers-Danlos Syndrome face in diagnosis, treatment and access to ongoing care.

Introduction to the study

Ehlers-Danlos Syndrome is a group of heritable connective tissue disorders consisting of several types varying in severity. Vascular Ehlers-Danlos syndrome(vEDS) is known to be the most severe type and is associated with risk of spontaneous arterial dissection or rupture, and organ rupture.

There is little published evidence reporting barriers vEDS patients face in their care. This study aimed to explore perceived barriers vEDS patients faced in diagnosis, treatment and access to ongoing care in the United Kingdom.