Teen with rare genetic disorder gets the answer he’s been waiting for

One of the first patients to sign up to the 100,000 Genomes Project has received a diagnosis for his rare genetic condition after years of speculation.

The family of Alex Masterson, 19 from Rochester in Kent, discussed the benefits of his correct diagnosis as the Department of Health and Social Care, NHS England and Genomics England announced that the project has reached its halfway point, with 50,000 genomes now sequenced from patients across the country.

Alex aged 5

Alex was originally diagnosed with Noonan syndrome – a genetic disorder that can cause heart defects and distinctive facial features – when he was five years old, but he did not have a mutation in the genes usually known to cause the condition.

Through the years Alex has had 28 operations including the removal of multiple benign tumours, several bouts of heart surgery, stomach surgery, dental work and operations on his feet.

His mum Kirsty, 46, said: “Although Alex ticked many of the boxes for Noonan syndrome, he did not have a mutation in the genes usually known to cause the condition so we never knew exactly what he had. It was very difficult in the early years because we wanted to know what it was so that we could prepare ourselves and deal with it.”

Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, told the family about the 100,000 Genomes Project in 2014 and they enrolled Alex straight away.

It was a complete no brainer to join the project because it was finally an opportunity to get an accurate diagnosis for Alex

Kirsty Masterston

Alex and Mum Kirsty

The project involves sequencing 100,000 genomes from people who have a rare disease or cancer. Your genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell. The aim of the project is to create a new genomic medicine service for the NHS – transforming the way people are cared for.

Kirsty, who works in a bank, said: “It was a complete no brainer to join the project because it was finally an opportunity to get an accurate diagnosis for Alex.”

Sequencing of his genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML).

Kirsty, a mother-of-two, continued: “I cried when we got the diagnosis because it was such a relief to have an answer. Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future.

“If Alex had been able to have the test as a baby we could have been prepared for what was to come and avoided years of diagnostic tests and uncertainty.”

Alex recently started an internship as a support worker at an activity centre for adults who require support.

He said: “I really enjoy the job and have been able to prove to people that I have lots of skills and can do it with my head held high.

“The diagnosis has helped my parents a lot because it’s been very hard for them to watch me going in and out of hospital not knowing the cause behind it. For me, it’s all just a part of my life.”

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Dr Irving said: “We had reached the limits of the genetic tests available and we still had no answers for Alex and his family as to why this was happening to him, so when the 100,000 Genomes Project came along we leapt at the chance to enrol Alex.

“The project is transforming genetic testing in the NHS, not just for families with a rare disease like Alex, but also for people with cancer and other medical conditions, helping to inform decisions about the most effective treatment for them.”

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Thirteen Genomic Medicine Centres (GMCs) have been established by NHS England since 2014 to help deliver the 100,000 Genomes Project.

Guy’s and St Thomas’ NHS Foundation Trust leads the South London GMC, which involves King’s College Hospital NHS Foundation Trust, South London and Maudsley NHS Foundation Trust and St George’s University Hospitals NHS Foundation Trust.

The South London GMC has partnered with Royal Surrey County Hospital NHS Foundation Trust, Frimley Health NHS Foundation Trust and Maidstone and Tunbridge Wells NHS Trust to cover the population of south London, Kent, Surrey and Sussex.

So far, the South London GMC has recruited more than 7,000 people to the 100,000 Genomes Project and is one of the highest recruiting GMCs in the country.

For more information about the South London GMC, visit southlondongmc.nhs.uk