Alport UK Chief Executive Susie Gear has written a new article for Nature Reviews Nephrology, highlighting why earlier diagnosis of rare kidney diseases can make such a difference to people’s lives.
Although rare kidney diseases are individually uncommon, together they account for a significant proportion of kidney failure. An earlier diagnosis gives people the opportunity to access treatment sooner, benefit from genetic testing and receive the right information and support for themselves and their families.
Early diagnosis can have life-changing benefits, including:
- Starting treatment earlier to help protect kidney function for longer.
- Identifying family members who may also be living with the condition through cascade genetic testing, allowing them to access monitoring and treatment sooner.
- Giving people with milder forms of disease the best chance of preserving kidney function for as long as possible, and in some cases delaying or avoiding the need for a kidney transplant.
The article also celebrates the remarkable progress made by the global Alport community over the past decade. Collaboration between people living with Alport, researchers, healthcare professionals and the pharmaceutical industry is accelerating research, improving care and bringing hope for the future.
We are incredibly proud that Alport UK has played a key role in this journey over the past 12 years, working alongside partners across the Alport Syndrome Alliance to improve outcomes for people living with Alport.