Dyskeratosis Congenita (DC) and Fanconi Anaemia share some common medical issues, so it makes sense that our two support organisations tackle these together. This is made easier by the fact that both of our organisations have been working together for over 2 years now as part of the Better Together for Healthy Marrow project, funded by the National Lottery Community Fund.
Both conditions greatly increase the susceptibility to oral cancers particularly in adulthood, but regular oral surveillance by experienced healthcare professionals is not uniformly available across the UK. In particular, we need to find more effective techniques for the early detection of oral cancers and pre-cancers. Some promising techniques using artificial intelligence are currently being applied to other types of cancers, and we are jointly working with Sheffield Medical School with the aim of applying these to FA and DC.
Bob and Jeannie Dalgleish were pleased to be invited to the DC Action’s Telonet Meeting in November.
This was the formative meeting of Telonet, a Network set up by Dr Hilary Longhurst and Dr Jane Paxton of DC Action to address the lack of recognition, diagnosis and treatments for people with dyskeratosis congenita and telomere biology disorders.
Telomeres, the protective caps on chromosomes, are vital for DNA stability. In DC, short telomeres cause cell damage, especially in regenerative tissues like bone marrow. In FA, faulty DNA repair also leads to telomere instability. Both conditions share issues with DNA stability, linking telomere health to repair processes.
Our two conditions share many of the same healthcare professionals which helps considerably in our combined approach to tackling common issues.
Dr Jane Paxton also attended an Oral Dysplasia Research Workshop on behalf of both charities at Sheffield Medical School in November which brought together UK & international collaborators, researchers, clinicians, pathologists, surgeons & patients.
The workshop sought to identify research that might produce more reliable clinical or pathological predictors for oral dysplasia. Oral dysplasia is highly relevant to individuals with FA because they are at a significantly increased risk of developing squamous cell carcinoma (SCC), particularly in the head and neck region, including the oral cavity. Oral dysplasia is a precancerous condition characterised by abnormal changes in the cells of the oral mucosa, which can progress to SCC if left untreated.