Caring for children with undiagnosed conditions

Did you know? 6,000 children a year are born in the UK who have genetic conditions so rare that there is no diagnosis for their illness.

In honour of Undiagnosed Children’s Day, we're sharing the story of our GOSH patient, Hana, who's condition cannot yet be diagnosed.

Undiagnosed children – known as Syndromes Without a Name (SWAN) children – have a condition so rare that it cannot be diagnosed. The medical needs of these children can be incredibly complex and will need to visit as many as 20 specialist departments across the hospital for many years.

Hana’s story

Nine-year-old Hana has an undiagnosed genetic condition. She has been visiting our hospital every year since she was 18 months old after she wasn’t reaching her walking milestones.

For any parent not knowing what is wrong with your child is worrying. We went through a lot to try and find out.

Saida, Hana’s mum

Countless tests provided no clues about her condition, so Hana’s parents decided to enrol her in the 100,000 Genomes project. Here, Hana’s entire DNA sequence was determined using a technique called whole genome sequencing (WGS).

This sequencing closely analyses a patient’s genes to looks for clues about their condition which could help increase the possibility of a diagnosis. Comparing individual’s genomes with one another, whether healthy or for those with a genetic condition, also allows researchers to look for similarities or key differences between patients' genomes and help identify genes that could contribute to genetic disorders.

We felt like the 100,000 Genomes Project was something that could help Hana, but also help link us to families with children who have similar disabilities.

We wanted to be a part of that because even if no answers came for us, it could help someone else.

Saida

After the genome testing, still no diagnosis was found for Hana. However, the testing remains an important part of continued investigations into Hana’s condition and gives her consultant clues about what avenues to investigate next.

For some people with undiagnosed conditions, the 100,000 Genomes Project did uncover new diagnoses. The study provided a new diagnosis for 25% of those who took part.

Whole genome sequencing is now available on the NHS and over time it is hoped that continued research using whole genome sequencing will help identify more genetic causes of conditions, and can offer the answers that SWAN children and their families are looking for.

Although Hana's genetic condition remains undiagnosed, this doesn't stop her from living life to the full. In her free time she loves to go swimming and visit her aunties and cousins. Since starting school she has come along in leaps and bounds. Now in year 5, she enjoys a range of subjects from drawing and PE, to maths and science.

Outside of our hospital, Hana also receives care with the Freddie Farmer Foundation, who specialise in different types of physio for disabled children. The Orthopaedic department at Mile End Hospital also ran a balance programme where Hana met other children with similar disabilities and built up her confidence.

How we support SWAN families

Anna Jewitt is a Roald Dahl SWAN Clinical Nurse Specialist. She provides support for children who come to our hospital with rare, undiagnosed conditions.

Anna is the only 'undiagnosed' nurse in the country. Her role is to help coordinate care for the SWAN families. Families can often be across many teams in the hospital, which can be incredibly overwhelming and can make families feel isolated. The absence of a diagnosis means that they are not quite sure where they belong, meaning they can sometimes fall through the gaps.

It’s amazing how many patients are actually undiagnosed, but even in the medical world it is often hard to understand that we cannot always find a diagnosis.

Part of my role is to help these families realise they are not alone, and that there are other children without a diagnosis, like them. Raising awareness about undiagnosed children is crucial to helping reduce the isolation SWAN families can face.

Anna Jewitt, Roald Dahl SWAN Clinical Nurse Specialist at GOSH