Philippa's Story

The first clue in the diagnosis of Marfan syndrome can be external or internal. For Philippa, it was the sound of a heart murmur during a routine school medical appointment that first alerted doctors.

I'm a 55 year old female and was diagnosed with a heart murmur at 13 and Marfan Syndrome at 24. I count myself as lucky as I haven't needed any heart surgery to date and have lived a full and active life. I'm married with two children (one with Marfan Syndrome) who are now in their early 20s.

My heart murmur (floppy valve) was picked up at a routine medical when I started boarding school (which must mean I was 13). The doctors unfortunately didn’t explain to me what was wrong (I assume they told my mum but she didn’t pass the information on) and told my mum I needed to be seen again when I reached 21 and discharged me. The lack of explanation caused a lot of anxiety and for those years in between  I thought I could have a heart attack at any time because I didn’t understand what the murmur was. It didn’t help that I was unhappy at boarding school and bullied because I was so tall and skinny. I saw another cardiologist at 21 who noticed my long, slim fingers and they referred me to Dr Child who was amazing and explained everything to me. She always reassured me at my annual check-ups which was especially important after having worried about my heart so much when I was a teenager. I think (and hope) it’s probably the case that young people are given much greater access to information about their medical symptoms these days

I started taking beta blockers in my early 40s and have recently started taking ramipril for my mitral valve prolapse. One of the things I have learnt over the years is that I need to be very proactive in managing my symptoms and that I feel much better when my self care is a priority. I have suffered with back and joint pain since my early 20s and in those days I relied on osteopaths (with limited success), painkillers and Pilates.

These days my back and joint pain are better than they were when I was younger. I have a weekly one-to-one yoga therapy session, do a tai chi class at my local gym, have Alexander Technique lessons, do a weekly meditation class, as well as my own practice, and I try to walk or stretch every day to keep everything moving. To be honest it feels like a full-time job just maintaining my body and staying as pain-free as I can! 

When I start skipping the things I do regularly or there's a long summer break I feel my body start to seize up and I usually end up feeling stuck, miserable, in pain and needing to see an osteopath to get me moving again. 

I've also done quite a bit of therapeutic work on myself which has included dealing with feelings of anxiety about having Marfan Syndrome (and passing it on to my daughter), how I feel about my body and how it felt feeling very different to my peers and siblings when I was younger (including being bullied at school). This work has meant I have started to see myself in a different way and I feel more confident about the things I can do rather than worrying about the things I can't do. I can move my body in my yoga practise in ways that I couldn't have managed in my younger days which feels good.  I'm fortunate that I don't work and am able to dedicate so much time to my physical and emotional wellbeing and I understand not everyone has that luxury. I'm due to talk to a surgeon in the coming months about having my mitral valve repaired or replaced and my aim in the lead up to that is to feel as strong as I can both physically and mentally.

The one thing I still find difficult is managing my fatigue which feels like an invisible symptom and I don't think people around me understand quite how tired I feel on some days. I'm also not great at explaining my levels of fatigue to others or allowing myself to rest when I need to. But I'm working on it!!!