Today we share Steffanie's story. It sadly spells the urgent need for early diagnosis of Marfan syndrome. Capturing Marfan syndrome in the present generation could save the lives of future generations.

“We didn't know Angel had Marfan syndrome until she suddenly and unexpectedly passed away in my arms one night aged just ten. We later found out from the coroner’s report her aorta had ruptured and they strongly suspected Marfan syndrome based on her physical body. They asked if they could do a genetic test. This confirmed it was Marfan.

Now since I was a child I've had issues with my heart and was admitted many times to hospital but was diagnosed with anxiety and put on beta blockers at a young age. After Angel died I was advised to see a specialist as they thought she may have inherited Marfan syndrome from me. I was sent to Leeds where they confirmed from my characteristics and measurements that I had actually have Marfan syndrome. they did some genetic testing to confirm this. It all makes sense now. How I felt for years the pains in my body, the tiredness, the fluttery heart, the chest pains -  these were symptoms of anxiety but of Marfan syndrome.

We have tried to raise as much awareness as possible about this horrible disease as I truly believe that if a doctor had picked it up in me all those years ago then Angel would have been saved and would still be with me now.

Every day is a struggle as you can imagine and I'd never want another family to suffer like I have. I have no other children and lost two babies after Angel died. Now I've been told not to have children as my heart won't cope. It's all truly heart-breaking.”
By Steffanie

Steffanie has raised £3,500 for the Marfan Trust and has offered to share her story in the hope it will help others. Thank you, Steffanie.

The Marfan Trust is registered in England and Wales under charity number 328070 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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