It is estimated that 300 people have been diagnosed with a Telomere Biology Disorder in the UK but this is likely to be an underestimate, the true prevalence is unknown. DC Action has supported approximately 50 people in the last year.

Most people with TBDs remain undiagnosed through lack of awareness and routinely available diagnostic tests.

Many are wrongly diagnosed and, as a result, receive inappropriate and inadequate treatment.

Those affected have multiple medical needs and require access to multidisciplinary care; from haematologists, respiratory physicians and liver specialists and are likely to need access to oral medicine, dermatology, opthalmology, orthopaedics and cancer services at some time during their lives.

Medical, financial and mobility problems often make it impossible for patients to attend multiple clinics and relevant knowledge and expertise is often unavailable.

A substantial number of doctors from the services needed by patients will have little or no knowledge of Telomere Biology Disorders.

When asked in our Rare Voices report, 59% disagree that general NHS professionals (outside of their core medical team) have knowledge of their condition.

In November 2024 DC Action held the first ever TeloNet meeting, a networking meeting for clinicians and physicians from various disciplines.

By joining in with Super Rare our annual fundraising campaign you will help facilitate clinical knowledge and build expertise of Telomere Biology Disorders, as we plan the next steps for the Telonet group.

Raise £200 in February and March and we’ll send you a Super Rare t-shirt.

Join our Alpaca Walk on the 1st March. See details here