26th April marks Undiagnosed Children’s Day; a day to celebrate and raise awareness for the 6,000 children that are born annually in the UK with an unknown, rare genetic disorder.
So what does undiagnosed mean? We looked to SWAN UK for information – a charity that represents those living with a Syndrome Without A Name and found a wealth of resources that we used to remind the emotive team why we work so hard to make a difference in the field of rare disorders.
Children can be left facing an uncertain future and an unclear treatment pathway when they have a rare disorder. But why are they left undiagnosed, with syndromes that have no name?
- What they have may be the ‘rarest of the rare’– a condition that has never been seen before so is not actually tested for.
- The child may display a variety of different symptoms which do not match one disorder and a clear diagnosis is not reached.
- The child might have an array of symptoms that are in fact an unusual presentation of a known rare condition. One child’s symptomatic profile may look totally different to that of another child with the same disorder, so the condition is undetected.
- Genetic testing may reveal genetic changes that are of ‘unknown clinical significance’; as the source of the condition cannot be identified, a diagnosis is not achieved.
A Rare Disease UK report published in 2016 found that nearly half of the respondents who identified as undiagnosed had been waiting over five years. Currently around 50% of children undergoing genetic testing in the UK will not get a confirmed diagnosis.
Many children living with a SWAN will live out their childhood without receiving appropriate treatment that could dramatically improve their quality of life. This year, Undiagnosed Children’s Day is celebrating the courage of these kids through their #ROARsome Be Brave Like a Lion campaign.
After being inspired by the positivity and resilience we heard in the undiagnosed children’s stories, the emotive team signed up to complete SWAN UK’s Virtual Marathon to raise money and awareness. It takes some bravery to complete a marathon and our team will be running, walking or cycling their 26.2 miles to the finish line over the coming weeks! Stay tuned for progress updates.
One field of research has been making waves in this area of extremely rare disorders, shifting Exome Sequencing into the dark ages. The UK has become the first country to take Whole Genome Sequencing, a cutting-edge biotechnology, into mainstream healthcare. Rather than looking at the genetic makeup of just the 20,000 genes known to cause disorders, the whole genome is analysed. Through the inclusion of all previously disregarded DNA that lies in between the genes, bioinformaticians have been able to spot the cause of rare disorders.
For the first time, HCPs have been able to give some SWAN patients an answer. Numerous unknown disorders have been identified with clarity, finally providing diagnosis and treatment options to thousands. As part of our commitment to the field of advanced therapies, emotive recently met with Genomics England, the masterminds behind the 100,000 Genomes Project, to find out more. Stay posted for the full article.
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