Francesca's Story
Marfan and Milestones
Meeting personal milestones while navigating the vagaries of Marfan syndrome can be tricky but is possible. Francesca has emerged from a whirlwind year, cramming in PEARS surgery, her honeymoon, and a PhD! Here is her uplifting story.
We first learnt about my Marfan syndrome when I was around 8 years old. My mum – a nurse – noticed my feet were flat and took me to see a podiatrist. This was the catalyst on my journey to diagnosis, and from there, I was referred to a geneticist for assessment. Marfan syndrome was confirmed using the Ghent criteria and I began having yearly echocardiograms. After genetic testing in 2018, we found out that I have a de novo mutation: neither of my parents carry the Marfan gene.
Aged 12, I experienced a spontaneous pneumothorax and underwent pleurodesis on my left lung at Alderhey Children’s Hospital. I remember the anaesthetist telling me that while it wasn’t open heart surgery, it was still a big operation, where my ribs would be broken so that the surgeons could get to my lung. I spent my 13th birthday in hospital having visits from friends and family but recovered well after. Apart from some scares (I was fearful of having another pneumothorax!), my teenage years and twenties passed by rather uneventfully health wise. This is something I’m extremely grateful for, because I had the best time meeting new people and enjoying life with some of my best friends, and my now-husband, during these years.
I always had it in the back of my mind that I would one day need open heart surgery for my steadily dilating aorta but had no real idea of when this might be. So, it came as somewhat of a surprise when, in November 2022, I learnt that I would be referred for surgery ASAP. I was just 3 months away from completing my PhD but felt overwhelmed and anxious by the prospect of surgery and decided to postpone my studies. I replaced my PhD research with researching my options for surgery. As a 28-year-old woman who wanted children, the prospect of aortic root replacement and Warfarin wasn’t particularly appealing. I sought another option that would work better for me so I could possibly carry a baby safely in the future. I was referred to Mr Austin at Guy’s and St Thomas’ Hospital in London to discuss PEARS. Deciding what surgery to go for was incredibly stressful and confusing. Did I go for a bigger surgery that was tried-and-tested but might leave me on Warfarin for the rest of my life, or a new option that seemed much more favourable, but the data for which was lacking?
I opted for PEARS and was added to the waiting list. I was due to get married at the end of September 2023, and so was keen to get my surgery out of the way so I could be recovered in time for it. Unfortunately, my surgery was cancelled twice, in May and June 2023, at the last minute. We went ahead and got married in September and I received a call a week later to tell me that my surgery was now scheduled for 17th October 2023. This time, it happened(!), and I underwent the PEARS procedure at St Thomas’. I recovered well and was home after 4 days. I was incredibly well looked after by the hospital staff at St Thomas’, and then by my husband and parents at home, and had many visits from my amazing friends who showered me with delicious food and thoughtful gifts. It took a while for my wound to heal fully at the bottom, but regular visits to the practice nurse at my local GP surgery soon resolved this.
Since my surgery, I’ve achieved so much already. My husband and I went on our honeymoon to Sri Lanka, I turned 30, and we celebrated our first wedding anniversary. I also returned to my PhD in January and passed my viva with no corrections in September. I hope my story will resonate with people with Marfan syndrome. Although it can be a debilitating, painful, and scary disease to have, our experiences can make us stronger, more resilient, and appreciative of life.
