This week’s blog is written by Rhys Holmes, who you may know from Drug Repurposing for Rare Diseases 2022! Rhys was diagnosed with the rare neurodegenerative disease superficial siderosis. He joined us at #DrugRepo22 to share his rare journey about losing his hearing and how an off-label drug, deferiprone, has improved his quality of life. Rhys summarises his experience at our Drug Repurposing for Rare Diseases conference!
In honour of World Mental Health Day on 10 October 2022, Rare Patient Voice helped to launch “Beyond Limits: Rare Men Talking Mental Health,” a new short film from our rare disease patient/advocate David Ross! Watch his film now!
This week’s blog is written by Isabela Ribeiro, mother to three-year-old Alice who was diagnosed with Infantile Neuroaxonal Dystrophy (INAD). Isabela became a volunteer at the INADcure foundation after her daughter was diagnosed with the ultra-rare disease INAD. She has been raising awareness of this unknown rare condition ever since in Brazil and beyond. This is Isabela and Alice’s story!
This week’s blog was written by Geraldine Renton, author of Ethan and Me. Ger’s firstborn son, Ethan, had a very rare genetic condition called MPS II Hunter Syndrome and sadly passed away in September 2020. She chronicled her adventures with Ethan on her award-winning blog, ‘It’s me and Ethan’, until she decided to approach Tribes Press to memorialise their story in book form. Ger was kind enough to write a guest blog for us to share her time with Ethan.
This week’s blog was written by Erin Paterson who discusses her experiences of living with Huntington’s Disease (HD) and trying to start a family. Read her guest blog now and let us know what you think on social media!
This week’s blog was written by Sonia Sankoli. Sonia is the Communications Officer at Soft UK, and her son, Dhian, was diagnosed with Trisomy 13. In his honour, we are sharing their story to mark Trisomy Awareness Month this March.