Originally published in the Cambridge Independent.
The UK’s 3.5 million people living with rare diseases face enormous challenges and inequities, starting with diagnosis, says CamRARE, the Cambridge Rare Disease Network.
Rare Disease Day on February 28 gives those directly affected, their families and medical teams a chance to share the positive stories that are emerging, and add their voices to help find solutions to the challenges ahead.
CamRARE will join the global rare disease community to mark Rare Disease Day on February 28, calling for equitable access to diagnosis, treatment, health and social care, and opportunity. The charity hopes the campaign will accelerate the implementation of the UK’s Rare Disease Framework launched in 2021 and achieve earlier, more accurate, and sensitively delivered diagnoses.
Parents from CamRARE’s Unique Feet (UF) group vouch for the difference genetic testing can make.
We had her genetic results really early; within a few weeks of her being born, we knew there was something genetic going on, but it wasn’t what they thought it would be, so it was definitely good to know.Stacey Buwert, mother of a child with a rare disease.
Mum Kym Ellis agrees, saying: “I’ve always known that there was something he needed support with, and I’ve had to basically fight the last two years for somebody to see that. We saw the geneticist who was lovely, amazing, and they said, ‘Yep, he’s got a genetic condition. We don’t know what it is, but I can just tell by looking at him and pointing out these features to you that, yes, it will be something genetic’.
“So, we’ve done the first blood test for chromosome microarray and Fragile X, and then we’ll do the whole genome sequencing.”
But how do you diagnose when there are more than 10,000 rare diseases? CamRARE says recognition among healthcare professionals that rare diseases are collectively common and that people living with rare diseases face unique challenges is an excellent place to start. Daring to ‘think rare’ is fundamental to improving the diagnostic odyssey, and CamRARE believes this, coupled with access to new diagnostic tools, can help medics spot rare diseases earlier.
Dr Kate Downes, clinical scientist lead for the East Genomic Laboratory Hub (East GLH) says it’s a thrilling time to be working in genomics.
“We are using and introducing new technologies to test patient samples to identify the cause of their rare disease and clinical symptoms,” she says. “We are translating new techniques, tests and analysis methods alongside using the latest understanding of new genes and disorders.
“We use big databases of genetic data from population and patient cohorts worldwide. These resources help clinical scientists interpret a new genetic variant we have identified in a patient. We ask: ‘Has this genetic variant been seen before in another patient with similar clinical symptoms?’ If the answer is yes, then it is likely that this genetic variant is the cause of the patient’s disorder.
Introducing new technologies and analysis methods with increased data sharing worldwide helps provide more genetic diagnoses to patients.Dr Kate Downes, clinical scientist lead for the East Genomic Laboratory Hub
Moving from academia to the NHS, Kate takes part in national discussions to improve and standardise genomic services and improve patient pathways.
“And why do I love doing that? I am in this role to provide the best possible service for patients and their families right now, but also importantly to bring in new technologies, processes, and knowledge into the laboratory to improve testing strategies in the future.”
CamRARE has a well-defined agenda. Equality, says managing director Jo Balfour, is promoting fairness by treating everyone equally, while equity is promoting fairness by treating people differently, depending on need. Justice means fixing the system to provide equal access to tools and opportunities, she says.
Jo adds: “Getting a diagnosis for any condition is a fundamental step in gaining access to information, support, and appropriate care and treatment. It enables clinicians to shed light on the prognosis and progression of a disease. It allows for appropriate medical follow-up, monitoring, and screening for known complications.
“It avoids new consultations and unnecessary and potentially invasive examinations that may lead to trauma. But, for rare diseases, people frequently face years of uncertainty, misdiagnosis, treatment inequality and isolation.”