Event offers support to families with undiagnosed children

An event for families of children with undiagnosed genetic conditions was held at St Anne's College in Oxford on 26 April 2018 - the eve of the national Undiagnosed Children's Day.

The event was organised by the SWAN UK (syndromes without a name) support network in partnership with Oxford NHS Genomic Medicine Centre for families of children and young adults with undiagnosed genetic conditions.

Around 6,000 children are born in the UK each year with a syndrome without a name - a genetic condition so rare that it is often impossible to diagnose.

Speakers included Mike Nash, whose eight-year-old daughter Keira was only recently diagnosed with the rare Kleefstra syndrome, and Dr Usha Kini, an Oxford University Hospitals consultant clinical geneticist.

"Being undiagnosed was very hard. You don't know what to expect looking forward. I came here today to talk about how that feels, and what impact having a diagnosis has," Mike Nash said.

He said there are so many unknowns when you have a child with an undiagnosed condition: "There's just a void, where no one can tell you what your daughter's future is going to hold. Will she be independent? If not, to what extent? Will she be able to walk, and talk? You go through life in a fog.

"Getting a diagnosis filters all that down into something more manageable. We have some idea of what the future might bring. There are support organisations for Kleefstra children, so we've found other families in the UK that have it who we can talk to. You don't feel so alone anymore."

Having a rare or undiagnosed condition can often make families feel isolated and anxious, so the event was a great opportunity for them to meet and support each other, and share their experiences.

Mike and Keira are patients in the 100,000 Genomes Project in Oxford, a leading centre for genomic research. This entailed Keira, Mike and his wife giving a blood sample so that their DNA could be sequenced and then compared, which is how they worked out the condition that she has.  

Oxford has recruited almost 4,500 people to the 100,000 Genomes Project, almost 3,000 of them in families with rare diseases. The project offers whole genome sequencing in order to find the genetic cause of these disorders.

"We hope that this type of testing will improve our understanding of genetic disorders, so much so that we can start to consider treatment option, which currently unthinkable," Dr Usha Kini said.

"In the past we had to do one test at a time because they were single gene tests. Now, with whole genome sequencing, it's one test and it allows us to look at chromosome abnormalities as well as single-gene changes. 

"Of course, it generates a lot of data and it can take a long time to find that one variant. But we are getting better at it, and software is being developed to tackle this quantity of data. And as we find more patients with the same change, it becomes easier to make the diagnosis," she explained.

The event was supported by the Centre for Personalised Medicine, which is based at St Anne's.

It came a day before Undiagnosed Children's Day, now in its fifth year, which raises awareness of what it's like to live with an undiagnosed genetic condition. 

Lauren Roberts, the National Coordinator of SWAN UK, said: "Having a child with an undiagnosed condition is extremely difficult for families as they have no idea what the future holds and can struggle to access basic information and support.  

"For the undiagnosed child, and their siblings, life can become a monotonous routine of appointments, tests and (often painful) medical procedures. They often miss out on the activities we would usually associate with childhood. Undiagnosed Children's Day is a chance to celebrate them for their bravery and raise much needed funds so we can help put back some fun into their lives."