Behind every diagnosis of Marfan Syndrome lies a unique story. Here’s Lynsey’s.

by Lynsey

"I wanted to share my Marfan story. 

I was 40 years old before I was diagnosed. I was never a sick child so was very rarely at the doctors, when I was around 15 I started to complain of back pain. My doctor said that I had a curve in my spine that may be causing the pain. When my mum asked what could be done I was told nothing- that any surgery was unnecessary. I didn’t really have any major symptoms beside the compensated curve. So life went on with back pain and just getting by with the odd painkiller.

I got pregnant at 31 and had my daughter via natural birth. I did suffer a prolapse after birth. 

My scoliosis started to worsen and I was struggling with breathlessness as well as pain. I went to doctor and was sent to lung specialist. It turned out my lung had collapsed because of the curve in my spine pushing against it. I was told that I needed to have my spine straightened in order to save my lung. When I met the orthopaedic surgeon he asked me straight away if I had heard is Marfan syndrome. I hadn’t, and he explained the symptoms and sent me to a geneticist who confirmed that I did have Marfan syndrome. 

It was amazing to finally understand why I had all these symptoms. A few days after my 40th birthday I had 2 major operations to reflate my lung and insert a titanium rod from my neck to my pelvis.

Last year a 5.6cm aneurysm was discovered in my aorta and I had a valve-sparing aortic root repair followed by a permanent pacemaker 12 weeks later due to complete heart block

Life is difficult sometimes and I’m never not in pain. However, I am here living life with my beautiful daughter Sophie and thankfully she doesn’t have the Marfan gene."


Marfan Trust, a CIO registered as a charity in England in Wales with charity number 1198847 at: c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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