Skip to 0 minutes and 0 secondsThe rare disease diagnostic odyssey is a term that people use to describe the very long time it often takes to make a diagnosis in someone with rare disease. There is a number of different statistics people quote, but they're all troubling and one of them that sticks in my mind is that often it takes an average of five years for someone to be diagnosed. My family’s crazy. I’ve got three boys, they are full on, they are on the go all the time, but my family is amazing and I’m lucky to have them. Broden who’s my oldest, who’s 12, turning 13 in July, Chase who is 7 and Trent who is our SWAN, our undiagnosed little boy.

Skip to 0 minutes and 38 secondsHe’s an odyssey who we just don’t understand why he is like he is. Trent was born in 2013, normal pregnancy, normal birth, there was no indication that there was anything wrong and he started missing milestones, he was screaming a lot when he was young and so we started having sort of mini diagnoses. He was originally diagnosed with cerebral palsy because he was very very stiff and they eventually took that away and he was diagnosed autistic at two and a half. We had a diagnosis after MRI scan, we were told it was periventricular leukomalacia, which is a brain damage, but that was eventually discarded as well.

Skip to 1 minute and 11 secondsAnd the epilepsy is quite a recent thing, it’s very very traumatic for him, so every time we have to go for a blood test he has to be sedated, same with obviously MRI scans, and those sort of major scans he has to go under general anesthetic, which is obviously not ideal for a child. Watching your child being poked and prodded continuously is really hard, no matter how many times you’ve been through it, it’s not an easy thing to go through.

Skip to 1 minute and 37 secondsOur referral to the 100,000 Genomes came via our neurologist, we had gone through loads and loads of different tests, MRIs, blood tests, lumbar punctures, basically everything that could be done and we were told at one stage that’s pretty much it at the moment, and then the 100,000 came about. Whole genome sequencing can be really useful in addressing the problem of the diagnostic odyssey in rare disease. More traditional genetic tests often look at one particular part of the genetic code, the genome.

Skip to 2 minutes and 6 secondsAnd what whole genome sequencing lets you do is look much more broadly so you don’t need the doctor or the clinician at the beginning recognising the cause and pointing the test right at the answer, the test can look more broadly and therefore often find an answer that you wouldn’t have got to with the traditional approaches. Our understanding of the 100,000 Genome was they were researching and looking into the genetics of each child to find out what was wrong, if there was something missing, if there was something extra, we were then referred hopefully to find the answer as to why Trent is like he is.

Patient stories: the 'diagnostic odyssey'

In this video we meet Dr Richard Scott, an expert in rare disease at Great Ormond Street Hospital in London, and Claudia Beard, whose son Trent has an undiagnosed rare disease.

We learn that:

  • It currently takes an average of five years to diagnose a rare disease.

  • Trent Beard was born following a normal pregnancy and birth, but began to develop many health problems. He was missing developmental milestones, he is autistic and has epilepsy. He is also non-verbal and can only eat formula.

  • Trent has received several diagnoses throughout his life but they have all been retracted and the cause of his problems remains unknown.

  • The impact on families with no diagnosis is great: it is very difficult both for children undergoing numerous tests and for parents who have to watch their child suffer and go through multiple, often traumatic, hospital visits.

  • Trent and his family were eventually referred to the 100,000 Genomes Project, which we will learn about in step 1.27 and which uses whole genome sequencing to try and find answers for families like the Beards.

  • Whole genome sequencing has an advantage over many traditional tests as it allows scientists and clinicians to look more broadly at the genome, which means it is a good option when areas of the genome suspected to be involved in rare disease have already been explored and nothing has been found.

This video shows the potential for whole genome sequencing in rare disease and the hope offered to families seeking a diagnosis.

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This video is from the free online course:

Whole Genome Sequencing: Decoding the Language of Life and Health

Health Education England

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