DC Action signs joint letter to the government from the Together for Healthy Marrow Alliance

An open letter to the UK’s Chief Medical Officers from the Together for Healthy Marrow Alliance 12th July 2021 Professor Chris Whitty, Chief Medical Officer, England Dr Frank Atherton, Chief Medical Officer, Wales Dr Gregor Smith, Chief Medical Officer, Scotland Dr Michael McBride, Chief Medical Officer, Northern Ireland Dear Chief Medical Officers, We are an[…]

Telomere testing just got easier

Dyskeratosis Congenita (DC) is caused by premature shortening of the telomeres, and tests for telomere length are important in making the diagnosis. Accurate telomere length testing can be difficult, but scientists are making promising advances in this area. Researchers at Cardiff University and Queen Mary University of London have developed a rapid test for the[…]

UK government announces new Rare Diseases Framework

The UK government has announced a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment. The UK Rare Diseases Framework, signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living with rare[…]

COVID-19: Get vaccinated

COVID vaccines are now available in the UK. Make sure you get yours as soon as it is offered. Most people with dyskeratosis congenita will be classified as “extremely vulnerable” and will have priority for vaccination. Not registered as extremely vulnerable? Register here: https://www.gov.uk/coronavirus-shielding-support All currently available and future COVID vaccines are suitable for those[…]

Understanding the COVID risk for patients with rare diseases: new interactive tool

A team of clinical genetics doctors working in collaboration with the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT company) have developed an interactive tool for people with rare diseases. The tool is a quick online questionnaire that allows patients to better understand their risk of Covid-19 and is based on advice[…]

COVID-19: Staying safe

Advice for patients with Dyskeratosis Congenita (DC), telomere biology disorders and their relatives Coronavirus COVID-19 is a new virus which can cause severe pneumonia and damage to other organs, although most people will have a milder illness. It is estimated that 97 to 98% of people contracting the coronavirus will recover, and the vast majority[…]

Blood vessel abnormalities can be challenging in dyskeratosis congenita (DC)

The international DC medical community, along with patient representatives from DC Outreach and DC Action have published an overview of newly recognised complications of DC, including stomach/bowel bleeding, bleeding at the back of the eye (retina), liver and lung complications of abnormal connections between blood vessels. Understanding underlying problems in this way is the first[…]

ball and stick

Low dose danazol study starts in the USA

Danazol is believed to slow down the shortening of telomeres that causes the problems associated with dyskeratosis congenita (DC). A study in 2015 appeared to support this: people treated with danazol actually had lengthening of their telomeres, as well as better blood counts,  better lungs and better liver function. Many doctors believe that low dose[…]