Diagnosis and Treatment

How are rare diseases diagnosed?

When children and young people arrive at Birmingham Children’s Hospital some of them have already received their diagnosis, but for many the diagnosis is made here.

On arrival, children and young people may have to undergo a range of tests so that our doctors can confirm the diagnosis and better understand their condition. Tests are a routine part of any diagnosis and are nothing to worry about, we have lots of experience of testing children and young people in a safe and welcoming environment.

We explain every step of each procedure to our children, young people and their families and make sure that they are as comfortable as possible. Our expert paediatric staff can perform most tests in seconds, minimising any discomfort the patient may feel. Within the hospital we also have a number of play specialists who can help ease the process by explaining what will happen through the use of puppets and other imaginary techniques.

100,000 Genome Project

Another exciting opportunity is the 100K Genome Project. The UK will become the first ever country to introduce this technology in its mainstream health system with the aim of personalised medicine. The West Midlands will be home to the designated Genomics Centre and together with University Hospital Birmingham,  our adult sister hospital, and Birmingham Women’s Hospital, we are in the initial roll out phase.

We are currently recruiting children with rare diseases without a genetic diagnosis for this project. We are leading recruitment in the West Midlands and have over 170 participants recruited to date. We are very fortunate to have the generosity of the Roald Dahl Marvellous Children’s Charity who will provide funding for a post to help with this project, and have recruited a new Roald Dahl Genetics Specialist Nurse.

Read more about the 100,000 Genome Project

Newborn screening programme

Birmingham Children’s Hospital was one of five paediatric centres that took part in the national newborn screening pilot programme. The screening programme enabled newborn babies to be screened through a simple heel prick blood test for five rare genetic conditions, including Cystic Fibrosis and Sickle Cell disorders.

Birmingham Children’s Hospital was chosen to conduct this pilot as part of a national scheme that finished in September 2014 with the introduction of four more rare genetic conditions screened at birth. This means that these conditions can be diagnosed as soon as the child is born and care can begin immediately.

Find out more about newborn screening

Why is early diagnosis and treatment important?

Children with rare diseases usually require life long care therefore, it is really important to establish a correct diagnosis as soon as possible. Receiving the correct diagnosis often reassures the child and their family that the condition is manageable and treatable. Early diagnosis and treatment can also reduce the effects of the disease in the longer term and improve the quality of life and wellbeing for these children.

What about children with undiagnosed syndromes?

Making a diagnosis is very important which is why we are also involved in the 100,000 Genome Project and we are actively recruiting families to this. We are also working with SWAN UK to develop a bespoke clinic at Birmingham Children’s Hospital’s Rare Disease Centre for children with syndromes without a name.



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