FS2024 Charitable Partner
St Andrews Charity Fashion show is incredibly proud to support our 2024 charity partner, ‘Genetic Alliance UK’, a charity with personal significance to some of our longest standing committee members.
Genetic Alliance UK is a coordination of over 230+ membership organisations (the largest alliance of organisations supporting people with genetic, rare, and undiagnosed conditions in the UK) and will be reaching their 35th year anniversary in 2024.
Their fantastic organisation focuses on the various challenges of rare genetic diseases, including:
- Championing timely diagnosis and coordinated care for people living with rare conditions.
- Providing a strong voice for people living with genetic and rare conditions.
- Ensuring that scientific breakthroughs in genomics drive better research and services.
- Promoting opportunities to expand screening in line with international best practice.
Within the Genetic Alliance UK family, they run two long-standing projects:
– Rare Disease UK: A campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment.
– SWAN UK: The only dedicated support network in the UK for families affected by a syndrome without a name – a rare genetic condition that often remains undiagnosed.
Another crucial element of Genetic Alliance’s cause is highlighting personal stories as a means of promoting improvements to the medical infrastructure of the UK. This is embodied in the individualised story from Portia and her son Ezra, who is diagnosed with the rare genetic condition of spinal muscular atrophy (MSA).
Portia shares the story of her 5-year-old son Ezra who was born with type 1 MSA, the most severe form of the neuromuscular genetic disease. Portia explains that Ezra is part of the first generation with MSA to survive beyond infancy, as her son, who was born in 2016 and diagnosed in 2017, was told by doctors that he would not make it past his second birthday.
Whilst Portia was able to obtain medication to prolong Ezra’s life, allowing for a ‘new normal’ where her now 5-year old son lives in a constantly medically-monitored state, a simple heel pin-prick test at birth would have allowed medication to be given before irreversible neuromuscular damage has been done.
Genetic Alliance, together with Portia’s story, emphasise the necessity for new-born screening of MSA to be pushed to the forefront of medical priorities in the UK, as in the UK, a child is born with MSA every 5 days.
Watch this video to learn more about Genetic Alliance and their amazing work