Hornchurch man ‘lucky’ for rare disorder diagnosis, thanks to junior doctor
- Credit: Freddie Beard
A Hornchurch man was able to be quickly diagnosed with his rare condition thanks to a junior doctor who had recently encountered the syndrome in his studies.
Freddie Beard was diagnosed with Marfan Syndrome - an inherited disorder affecting connective tissue - when he was around 13 years old.
As Freddie lost weight and seemingly had a pigeon-chested rib cage, his doctor was able to swiftly identify the signs of the rare disorder because he had recently learned about it.
According to the US Centers for Disease Control and Prevention (CDC), Marfan only affects about one in 5,000 people
It saw Freddie having open-heart surgery mid-way through his university degree, which he says "saved his life".
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Freddie had six weeks off his course and is now left with a reminder of the operation through a scar on his chest, but the surgery helped him to “live a normal life”, he said.
The 25-year-old said being diagnosed “didn’t make him feel any different”.
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“I’m the only one in my family with the gene and I'm a very mild case, but it’s good to have awareness so you don’t suffer in silence and I feel lucky I was monitored.”
Now, wanting to give back to the people who research Marfan, he is fundraising for the Marfan Trust.
On his fundraising page, he wrote: “This swim is my chance to give back to this cause, and hopefully to help any and all who may be diagnosed with this condition in the future.
"I was the fortunate (or unfortunate) one to be the only person in my family with this mutated gene, but on the upside, when the X-men come calling I know I’ll have earned my place!"
Freddie will swim the Serpentine in Hyde Park on Saturday, September 18 with his sister, Alexandra Beard, 30, who he hopes he can beat to the finish line.
Freddie and Alexandra dad Jason Beard, 54, said: “ I am really proud of him and hope he is an inspiration to others with Marfan.
"When you get something like that from a young age you may think that’s it, but he’s finished his degree and done so well - he now wants to give something back.”