Story
I am taking on the Three Peaks Challenge to raise vital funds and shine a light on the families living with rare diseases.
This will be the biggest challenge I have ever taken on and something I am very excited about. The dog walks have got longer and I am now actually looking for hills to run up rather than avoid them. There is only one charity that could have got me to do that and its MORcure.
This charity was set up by my friend and her family after her daughter was diagnosed with MORC2, a rare genetic condition. I saw the struggle for diagnosis and the isolation they faced in this rare disease community with limited information and answers. I have seen the dedication and work both put in by their whole family for treatments, answers and therapies and they are now pushing to ensure other families have different experiences.
Behind every rare disease diagnosis is a family facing uncertainty, challenges and often a long journey to find the right support. We’re climbing Ben Nevis, Scafell Pike and Snowdon to stand alongside these families and help make that journey a little less lonely.
As the only global organisation focusing on this disorder, MORCure also plays a critical role in advancing scientific discovery by identifying and funding research that will transform how M2RD is understood and, ultimately, how it can be treated. By identifying how MORC2 mutations disrupt normal biological processes, researchers can begin developing strategies to correct or mitigate these effects in patients.
MORCure's current research has already made some meaningful progress toward this goal. The research team, combined with direct insights provided by patients and their caregivers, have identified several previously undiagnosed cases of MORC2. Ongoing research aims to further elucidate the mechanisms that cause and drive M2RD. Through the promotion and funding of interdisciplinary and cross sector collaboration, MORCure is advancing the understanding that will inform future strategies to address M2RD.
Every step, every sore muscle and every donation will help provide hope, support and a brighter future for families affected by rare disease.
Please support our challenge and help us make every step count. ❤️
Whether you donate or not, please do look at the MORcure website. Raising awareness of rare diseases including MORC2 is a huge step in improving our understanding of them.
Thank you so much for reading and for supporting if you can.