With a precocious interest in genetics, 16-year-old Charles has always felt different. Tall and slim, he was often in pain and feeling tired. He secretly suspected he had Marfan syndrome. Then, in February this year, a hospital consultant confirmed his diagnosis, to the surprise of Charles’ mother who had never heard of the condition. Although shocked and a little scared, Charles remains undaunted and has gone on to achieve 10 straight A*s in his GCSEs. He wants to spread the word of Marfan syndrome and help the cause. Read his unusual and unusually uplifting story!

by Helen Pugsley

I had never heard of Marfan Syndrome until my son was diagnosed back in February. Charles had always been tall and slim but I’d never thought much of it. 

Charles started to feel unwell last year with chest pains, back pain and other symptoms. Meanwhile he has always felt he was different. He is naturally interested in genetics and was doing some reading online when he came across Marfan syndrome. He thought the description fitted him. But he never said anything. Then in February when we met with his consultant and they started examine him, he said he knew at that point what they were thinking and he just came out and said it: ‘Do you think it’s Marfan Syndrome?’ - the consultant wasn’t expecting it and I’d never heard of it!

Since February he has been dealing with the emotional side of the diagnosis and what it means for his future, as well as adjusting to medications and dealing with pain. He was in hospital several times during his exam period, suffered migraines and a dislocated shoulder but was determined to do well.

He worked so hard, despite the pain he was in and achieved fantastic results - amongst the best in the country.

He has such a positive attitude - and said "I may have a shorter life but I’m going to have a full one! He’s going on to study 4 A levels - Maths, Physics, Computer Science and Politics."

He’s just so talented - he enjoys acting and musical theatre and has done several shows at the theatre - playing Friedrich Von Trapp in The Sound of Music.

He is hoping to be Head Boy, share his story and inspire his fellow students to not let anything hold them back.

As you can tell, I’m super proud of him - 10 A*s is just remarkable.

He struggled a little for a few weeks, whilst awaiting further tests and he was really worried about his heart. He’s dealing with it amazingly and already thinking about how his career aspirations can link to Marfans - and what he can do /develop to help people with the condition.

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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