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Understanding the challenges facing families seeking diagnosis for a rare condition, often called the diagnostic odyssey is crucial says CamRARE, the Cambridge Rare Disease Network. A diagnostic odyssey is described as the time taken between when a symptom or feature of a genetic or rare disease is observed to the final diagnosis.

The average waiting time for a final diagnosis is currently estimated to be around five years and can involve the input of, on average, 4-5 doctors. But it can often take much longer, or result in being unable to diagnose. For many families, navigating their child’s diagnostic odyssey can be a long and painful journey. Trying to find answers to why their child presents with specific characteristics and health conditions and trying to understand what is causing them can be difficult, time-consuming, and a trying process that takes its toll. Danielle and her husband know all about this. It took them over four years to obtain a diagnosis for their son Reuben and they met many different consultants along the way. As Danielle explains:

“Reuben had his first testing at less than 6 months old – neither of these gave us or the doctors any answers. At this point, Reuben was referred to Great Ormond Street Hospital. We first met in July 2019, when Reuben had just turned one. In February 2020 Reuben had bloods taken for Whole Exome Sequencing (WES) This returned a normal result. There are many challenges that come with having a child with an undiagnosed condition. There is guilt, isolation, frustration, and stress, amongst many other emotions. From very early on in Reuben’s life we began to feel isolated and alone, that we didn’t ‘fit in’. Without a diagnosis it was very difficult to answer questions about Reuben.

Not being able to find the answers is a frustrating process for families. Numerous clinic visits, hospital stays, and tests that still seem to provide no definite answer make the diagnostic odyssey a traumatic one for many families as they attempt to manage a child’s symptoms without knowing their cause and the best way to support them.

Danielle explains this burden of care:

“We had an appointment with the geneticist every 6 months, so that she could be updated on Reuben’s development, and find out whether any new medical complications had arisen that may give her more clues. Reuben’s geneticist was very clear from the start that we may not find the answer to Reuben’s difficulties for a number of years, and potentially never.”


Cambridge Rare Disease Network - CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day 1

For those who have experienced a diagnostic odyssey like Danielle, advances in genomics – and especially whole genome sequencing offer hope. Whole genome sequencing, WGS, is a laboratory technique in which the entire coding and non-coding regions of the genome are obtained. It provides a comprehensive map of a person’s genetic makeup and allows extensive analysis of all genes. The hope is that the speed of genomic technology advances will continue to increase and provide families with an answer. Danielle was delighted to finally get a diagnosis for Reuben.

 “In May 2021, when genetic testing was becoming more readily available on the NHS, Reuben was deemed suitable for Whole Genome Sequencing, to be carried out at East Genomics in Cambridge. This was the test that gave us the diagnosis.”

Danielle D Sansum

For the family it meant that they had a name- the condition is called OTUD5-related neurodevelopmental disorder. They learned it is a relatively recently discovered disorder, and there are less than 50 known cases worldwide. Reuben is the only person currently diagnosed in the UK. It also meant that they could understand Reuben and the difficulties he will face as the diagnosis provided them with a list of commonly associated complications. For Danielle, it also helped her look to the future.

We want Reuben to be happy in life, for the good days to outweigh the bad, and more than anything we want him to learn how to effectively communicate with others, in whatever form that might be. We know that Reuben’s condition is lifelong, but we now know how to explain Reuben’s presentation to others, and it should mean we can easier access care and support services when needed in the future.  

CamRARE want to support more families such as Danielle’s and have a lively and growing
community for families living with rare and undiagnosed conditions called Unique Feet. Jo
Balfour explains why giving families the space to come together is important

Danielle echoes this:

What is so fantastic about Unique Feet is that it gives children and young adults opportunities that they may not necessarily experience otherwise, and for us as parents, it allows us the space to feel completely relaxed – there are no looks from others when Reuben falls to the floor when he becomes overwhelmed – everyone is in the same boat, everyone understands. which is why it’s so important that these types of support groups