“Quite deeply moving” – Participating in genetic study may have saved Shetland woman’s life
She had no idea participating would save her life.
Ms Stewart, 46, now living in Aberdeenshire, volunteered in 2015 for the University of Edinburgh’s Viking Health Study, which aimed to identify some of the genes and variants that increase risk some common illnesses.
She received a report of the results and put them away, thinking that was the end of the matter.
But several years later, Ms Stewart received a phone call from her GP asking her to have further tests, which confirmed that she had a rare genetic heart condition that is usually not discovered until too late. .
“Long QT syndrome†can cause palpitations, seizures or fainting spells, and can lead to sudden death in otherwise healthy people who are often unaware they have the disease.
As the disease is genetic, the rest of Ms Stewart’s family were tested and her nine-year-old daughter Freya also had it. Ms. Stewart’s father has the genetic mutation that causes the disease, but does not have it himself.
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Ms Stewart attributes the diagnosis to the fact that she may have “saved his life” as she and her daughter now take beta blockers daily and were able to counsel those around them in case they collapsed from the illness. sickness.
Freya’s school even raised money for a defibrillator on site.
“It all sounds a bit dramatic, especially since for the first 40 years of my life I didn’t even know I had this,†Ms. Stewart said.
“But when you read about it and see what might happen if you didn’t know, it’s pretty important,
“We are both taking medication every day now just to monitor our heart rate, and we are both seen regularly by cardiologists for check-ups. “
Professor Jim Wilson, the study’s chief researcher, found Ms. Stewart’s story “quite deeply moving.”
“We believe our research will have an impact over time, but the fullness of time is usually measured in years, if not decades, as the knowledge we discover turns into new treatments,” he said. .
“But here we had an immediate translation of the research into an impact on the life of this person and their family. It’s rare in my research, and it made me so happy. We could see this profound impact. on it from the work we do. “
Researchers identified the genetic mutation that causes long QT in another Shetland family, then discovered Ms Stewart’s case after looking at other study subjects.
Ms Stewart and her daughter’s condition “would never have been discovered” if she had not been involved in the study, Professor Wilson said, as she is not recently linked to the other family and would therefore not have been tested after their identification.
Ms Stewart contacted the study authors to identify themselves from anonymous patient records, in an effort to encourage volunteers to sign up for a new study by the same research group.
