A Fundraising Burns Supper
Thank you Kathryn, Pip & Jake
Mixing fun with fundraising, Kathryn held a haggis-soaked Burns supper with family and friends on Saturday, raising £887 (so far) for the Trust. Her son Jake had severe pectus excavatum, leading the family to suspect he had Marfan syndrome. Read their story of navigating diagnosis & surgery.
Meanwhile, there is still time to donate to their campaign:
Kathryn first approached our charity in 2021 when her son Jake was being investigated for Marfan syndrome. Jake's height, build and pectus excavatum were the catalyst for the suspicion and he had been referred for testing at a critical transition in his life, just as he was leaving school for university. To compound the family's worry, it was lockdown when waiting lists were longer than usual, and NHS England's funding for pectus excavatum had been withdrawn.
Jake navigated studies and life at university with a pectus excavatum so severe it was restricting his heart and lungs. We at the Marfan Trust helped to advise on matters such as travel insurance (tricky when you're waiting for a diagnosis), pain relief, day-to-day living, waiting lists, and the path to surgery for his pe.
[pictured: Kathryn's father addressing the Haggis. Alongside him stands Kathryn's sister Pip who organised this fundraising event].
After three years of painful waiting, the story ended happily, albeit slightly inconclusively. Whilst Jake tested negative for the fibrillin 1 marker, he has been told it does not completely rule out Marfan because there may be other genetic markers that are currently not known about. However, he was lucky enough to be one of the first cohort of the new pathway for the fully funded Nuss Procedure. He had his operation in September 2024 and has made a full recovery.
Kathryn wanted to express gratitude for our help by raising funds and awareness for the Trust. Her sister Pip organised a Burns supper, pictured. Thank you Kathryn, Pip, Jake and your wonderful family and friends!
