IT all began with Septimus.
A free study being conducted at the University of Notre Dame Rural Clinical School at Lithgow focuses on an inherited condition called malignant hyperthermia (MH).
Malignant hyperthermia is a condition that, if not recognised, can lead to death if the patient is given an inappropriate anaesthetic.
Lithgow is unique in that there are about 160 members of a particular family who are affected by the condition, all of whom are descendants of Septimus Drury.
This is one of the highest rates in the world.
Septimus, a ship’s carpenter, arrived in Australia from England in 1870 and established himself as a prominent citizen in Lithgow.
He was one of 19 founding members of the Lithgow Workmens Club.
Septimus met an unusual end, collapsing and dying after picking up a ballot paper in order to vote.
At the time of his death in 1928 he was one of Lithgow’s oldest residents.
Having 11 children, Septimus was also patriarch of a large family, one of the reasons there are so many members of the community at risk of having this inherited condition.
The university, in collaboration with Professor Paul Allen from Harvard University and academics from the Malignant Hyperthermia Unit at the Children’s Hospital in Westmead, have developed an investigative study that will use genetic screening.
The aim is to notify those affected so they can take the necessary precautions when undergoing surgery.
Professor Allen is acknowledged as the world leader in the field of MH and gave a lecture on the subject in Lithgow two years ago.
“We are asking members of the community who think they may be related to someone with the condition to contact us and see if they require further testing, which will be free of charge thanks to our partnership with Westfund,” Notre Dame Rural Clinical School head of Lithgow Sub School Associate Professor John Dearin said.
The study will involve a simple blood test to look for a possible genetic mutation.