Scientists discover rare genetic condition that attacks kids’ immune systems

Turner Syndrome: 'Be Joyful' Urges Woman With Rare Condition

Image caption,

Lauren Campbell now works at a special needs school in Leeds

By Ross McCrea

BBC News NI

A Belfast woman who lives with a condition affecting about one in 2,000 girls has urged others to "let yourself be joyful".

Lauren Campbell was diagnosed with Turner Syndrome (TS) aged two.

The genetic condition, which can affect height and ovaries, is caused by having one normal X sex chromosome, rather than two.

Lauren said one of her biggest challenges was becoming a teenager.

"You start taking hormone therapy then, to start going through puberty," she told BBC News NI.

"This was a really hard time in my life.

"All I knew was I had TS, I knew what that meant, but I didn't quite experience that until I was a teenager, until I actually felt different from my peers," she added.

The Queen's University graduate said she has been on a journey with TS as a child, a teenager, and now as a young adult.

Lauren, now 22, explained how doctors initially misdiagnosed her condition as cerebral palsy.

She explained she was "really floppy, but that was actually just because I had a heart condition".

"Because of that diagnosis, they did lots of blood tests, and it came back that I had Turner Syndrome."

According to the most recent census data, 183 people had TS in Northern Ireland in 2021, a rise from 88 in 2011.

There are a number of potential symptoms, including being short and having fertility problems.

Data provided by the charity Turner Syndrome Support Society found an average of 75% of cases are undiagnosed.

'Improving diagnosis'

Its executive officer, Arlene Smyth, said many cases of TS get missed "mainly because most girls living with Turners look completely normal".

Image source, Lauren Campbell Image caption,

Lauren said she has experienced TS as a child, teenager and now a young adult

"My message to any doctor is if a mum comes to you with a short girl, especially with recurrent ear infections, you should absolutely be thinking about Turner Syndrome, rather than wait for years and years.

Ms Smyth said many people with TS "have missed out on a lot of treatment" through delays.

"So raising awareness and improving diagnosis is a vital, vital part of the society's work," she added.

Looking back, Lauren praised the love and care from relatives: "My family have been a massive support; they educated themselves in how to get me through school, to get me through university. They're my number one champions."

Following her diagnosis, she also received support from Ms Smyth's charity, which she started after her daughter was diagnosed with TS.

"We support anybody with Turner Syndrome, or their parents, or family members," she explained.

Ms Smyth added she believed information she was given at the time about the condition was "really poor and not accurate".

'Be your own advocate'

Lauren noted how the work of the society gave her the opportunity to make friends with other girls, and described it as "a great source of help and support for anyone who has received a diagnosis".

Following her teenage years, Lauren spoke about how sixth form allowed her to be more open about her condition: "Anything from my heart condition to infertility, that was when the openness really began".

"As well as through university, where I met my now partner, and having that experience of having to be very open and honest with him about having Turners," she added.

Lauren currently works at a special needs school in Leeds, and explained how her experience gave her "that empathy and extra understanding of what these students are going through, and how to be a person that is supportive of them and understands them".

In a final word, Lauren offered advice to other girls who might be struggling with Turner Syndrome: "Get to know and understand yourself, and love yourself, because you are always going to have to be your own advocate".

"Let yourself have that Turner Syndrome joy. Know yourself, ask for help, let yourself be joyful".

Iron Age Infant With Down's Syndrome Identified Using New DNA Testing

The prehistoric bones date back as far as 2,500 years - pictured is a dig at Magdalene College at Oxford University

An infant with Down's syndrome dating from the Iron Age has been discovered with a new method of DNA testing.

The technique measures the amount of chromosomes in ancient human cells "more precisely", said researchers.

They have also identified the first prehistoric person with mosaic Turner syndrome, from about 2,500 years ago.

The research was carried out by the University of York, the Francis Crick Institute, the University of Oxford and Oxford Archaeology.

Down's syndrome, mosaic Turner syndrome and other conditions the researchers identified all stem from chromosomal abnormalities.

Most cells in the human body have 23 pairs of chromosomes and the conditions occur when a person's cells have an extra or missing chromosome.

Professor Ian Armit, from the University of York's Department of Archaeology, said: "Ancient DNA samples decay over time and can often become contaminated.

"A new technique was needed to help researchers overcome these challenges so that we could see just how far back we can trace these conditions, and we now know that they have been part of human history for a considerable period of time - more than 2,000 years in some cases."

Other discoveries include an individual with mosaic Turner syndrome

The individuals tested with the new technology lived across a range of time periods, from the Iron Age 2,500 years ago up to the Post-Medieval period, about 250 years ago.

Klinefelter, Jacob's and mosaic Turner syndromes all involve abnormalities with sex chromosomes and the researchers found that the individuals with these conditions had delayed puberty.

All were buried according to their society's customs although no possessions were found with them, the experts said.

Pontus Skoglund, group leader of the Ancient Genomics Laboratory at the Crick, said: "Our method is able to classify DNA contamination in many cases, and can help to analyse incomplete ancient DNA, so it could be applied to archaeological remains which have been difficult to analyse.

"Combining this data with burial context and possessions can allow for a historical perspective of how sex, gender and diversity were perceived in past societies."

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