Sophie Journet
Sophie & Simon are running a marathon
Fundraising for CGD Society
Story
The Zayed Centre for Research into Rare Disease in Children is not a common place for a pre-natal blood appointment at 30 weeks - but this is where Simon and I found ourselves in August 2022. I was being screened for CGD. Chronic Granulomatous Disorder (CGD) is a life-threatening and life-limiting genetic condition that affects the immune system - a condition that my nephew Ben had been diagnosed with earlier that month.
CGD is an inherited disorder, which means that it is passed from parents to their children. My test was negative, so baby (now Sidney) and I were given the all-clear.
Since diagnosis a year ago; Ben has been on daily medication, been through many scans & tests (overcoming his discomfort with needles!) and most incredibly been matched with a bone marrow donor. All being well in October, one week before the marathon, he will begin a Bone Marrow Transplant treatment (BMT) that will repair his immune system. Ben has faced the last year and his diagnosis with incredible level-headedness & positivity and I am so proud to be his Auntie.
Whatever this marathon throws at us, it will pale in comparison to the challenges being faced head-on by Ben in that week as he begins the chemotherapy for his BMT. If we can carry with us just an ounce of his resilience or a glimmer of his cheeky smile, 26.2 miles will fly-by. And when times do get a little tough we'll try to listen to some advice from Ben himself and just "stay in the moment" and enjoy it - knowing that we are supporting an amazing cause.
We love you Ben xx
The Chronic Granulomatous Disorder (CGD) Society is the leading global charity dedicated to providing information and support to all those affected by CGD. The charity funds a clinical nurse specialist at Great Ormond Street Hospital for Children and responds to enquiries from all over the world.