Rare Disease Diagnosis: A Patient’s Perspective

Rare disease, by definition, is sporadic, and information on it is sparse; but with over 7000 rare diseases currently classified worldwide, 1 in 17 people will suffer from a rare diseases at some point in their lifetime, and ‘rare’ does not seem like the right term any more. Tragically, 30% of those affected by a rare disease will not see their fifth birthday, and 95% of the disorders known today have no drug treatment available at all.

Three years ago, six of the country's leading geneticists began ground-breaking research into rare diseases at the Wellcome Trust Sanger Institute in Cambridge. The project was called Deciphering Developmental Disorders (DDD) and it analysed genetic data for conditions so rare that, in some cases, they had never been seen before.

Using what they learned from their research, some of those geneticists went on to create a software programme: Sapientia, which could analyse the genetic data of patients with a rare disease. Like the DDD project before, their focus was looking at the whole scope of a patient’s genome. Instead of looking at snippets of the genome for a single disorder, they wanted to look at all of the information within the whole genome to gain a better understanding of what caused rare diseases.

Sapientia’s creators understood that a diagnosis could have as big an impact on the psychology of the patients, their families and their carers as treatment could have on the condition itself. Diagnoses are more than just clinical tools, they give all involved the certainty that they may have been lacking. It allows patients to get access to the right treatments at the right time, and allows the family clarity on the potential status of future children. A diagnosis can also give a patient access to clinical trials, patient groups, disability allowance, and a community of affected people. Above all else, a diagnosis gives their struggle a name.