Weekly Spotlight - 10.10.24

In the News

International Ataxia Awareness Day 2024

International Ataxia Awareness Day, observed on 25th September, highlights the challenges faced by those with ataxia, a condition often misunderstood by the public. Many people, including health professionals, are unaware of ataxia, leading to misconceptions and a lack of support for those affected. Laura shares her personal journey, emphasising the importance of awareness and understanding. Her story of passing a driving test, despite the difficulties posed by ataxia, illustrates the strength and determination required to overcome daily challenges.

Laura's narrative underscores the need for greater awareness and empathy. She reflects on the fear and uncertainty of living with a chronic illness, yet she chooses to embrace life and its opportunities. By sharing her experiences, Laura hopes to inspire others to spread awareness about ataxia, aiming for a future where the condition is recognised and understood. Her message is clear: while ataxia presents significant challenges, it does not define her, and she remains proud of her achievements and the support network around her.

Embracing Ataxia: Living Twice the Life with Unyielding Spirit

Mohammad's journey with ataxia is a testament to resilience and living life to the fullest. Despite the unexpected twist of fate, he embraced the condition as an opportunity to live twice as fully. Once a biotechnologist, Mohammad now channels his energy into his community, becoming a spokesman for the Islamic community and organising the Bradford Ataxia support group. His story is one of adaptation and thriving, as he finds love, builds a family, and raises awareness about ataxia through his YouTube channel.

Ataxia may be part of Mohammad's life, but it doesn't define him. His narrative is filled with love, purpose, and a strong sense of community. By sharing his experiences, he invites others to embrace challenges and rise stronger. Mohammad's life is not just about surviving; it's about living vibrantly and making a real impact. His journey encourages others to find strength in adversity and to live a life full of meaning and connection.

TUG1: A Promising Biomarker for Friedreich's Ataxia

The study highlights the potential of TUG1, a long non-coding RNA, as a promising blood-based biomarker for Friedreich's ataxia. This neurodegenerative disorder, characterised by reduced frataxin levels, leads to severe motor and sensory impairments. Researchers found that TUG1 is consistently downregulated in both human and mouse models of the disease, correlating with frataxin levels and disease severity. This discovery offers hope for earlier, non-invasive diagnosis and monitoring, potentially transforming patient care and therapeutic development.

By examining gene expression in Friedreich's ataxia patients and a mouse model, the study underscores TUG1's role in disease pathways. The findings suggest that monitoring TUG1 levels could provide valuable insights into disease onset and progression, offering a new avenue for treatment strategies. This research brings a sense of optimism to the Friedreich's ataxia community, highlighting the importance of continued exploration into molecular biomarkers for improving patient outcomes and advancing therapeutic options.

Living Positively with Ataxia: Monika's Inspiring Journey

Monika, a 47-year-old widow, shares her journey with Cerebellar ataxia, a genetic condition affecting her life profoundly. Originally from Slovakia, she has lived in the UK since 2000. Her late husband Ian, who was 36 years her senior, was her support until his passing from lymphatic cancer. Despite the challenges, Monika remains positive, focusing on acceptance and maintaining her mental health. She emphasises the importance of nutritious meals and core exercises, while managing allergies and eczema. Her cognitive abilities remain intact, allowing her to make decisions and prepare meals safely.

Living with ataxia presents daily challenges, particularly with mobility. Monika now resides in a stair-free home, essential for her condition. She uses a walker and avoids walking outside due to slowed reflexes and discomfort around dogs and people. Despite these difficulties, Monika remains resilient, supported by a caring neighbour. She acknowledges the condition's impact but refuses to blame herself, focusing on staying calm and practical. Her story is one of hope and resilience, highlighting the importance of mental health and community support in facing life's challenges.

FARA Celebrates 16 Years of Transformative Adaptive Cycling Support for Ataxians

The Friedreich's Ataxia Research Alliance (FARA), alongside partners like the Burrows Hill Foundation and Catrike, proudly marks 16 years of the Ataxian Athlete Initiative (AAI), which provides adaptive cycling equipment to individuals with ataxia. This year, honourees include Peter Tait from South Africa, Mónica Herrero Huerta from Puerto Rico, and Andrew Harthorne from Maine. Ataxia, a challenging neuro-degenerative condition, affects balance and coordination, often leading to severe symptoms. The initiative empowers recipients to maintain an active lifestyle, as highlighted by Andrew Harthorne's transformative experience with adaptive cycling, which alleviated his anxiety about stopping safely.

The Burrows Hill Foundation's significant funding underscores the importance of staying active for those with Friedreich's ataxia (FA). The initiative's competitive application process ensures that recipients receive equipment tailored to their needs, enhancing their quality of life. The programme not only supports physical health but also fosters independence and joy, as expressed by Jack Perme of the Moving Forward Fund. The next application cycle begins in Spring 2025, continuing the mission to support and uplift the ataxia community.