Charlotte's Story

Exhilarated in the wake of completing the Edinburgh Half-Marathon, Charlotte has raised nearly £1,500 for the Marfan Trust. As a busy, newly qualified doctor with Marfan syndrome, this was no mean feat! Read Charlotte’s story:

Charlotte approached our charity, offering to volunteer her time and expertise. As a doctor with Marfan syndrome (MFS), she is uniquely qualified to help us spread the word and raise awareness of the condition.
 
Charlotte wasn’t formally diagnosed with MFS until the age of 17. Suspicions that she had Marfan, or something similar, emerged when she was only 19 months old and not walking. A paediatrician examined the little girl and noticed a constellation of signs that suggested a connective tissue disorder. But Charlotte didn’t present a classic picture and the geneticist felt she perhaps had only marfanoid habitus (a condition in which a person has the skeletal features of Marfan syndrome but doesn’t have any aortic or eye features). Therefore, she remained untested.
 
Nonetheless, Charlotte was monitored in Oxford with regular echos, as though she had Marfan syndrome. And all the while, she continued to grow taller and taller. At 13, she had her growth plates removed from her knees, which limited her final height to 6 foot 2. Then, at 16, Charlotte developed hip problems and was diagnosed with protrusio acetabuli on both sides, with osteoarthritis. She had a hip replacement at 19 but just prior to that, was genetically tested and found to definitively have Marfan syndrome.

Charlotte graduated recently with a degree in medicine and is now a newly qualified doctor, working in Edinburgh!

There's still time to donate to Charlotte's campaign.