Laura started to develop life-changing symptoms that led to the diagnosed of a rare genetic disorder called Wilson disease that requires actionable variants in both copies of her ATP7B gene (one from her mother and one from her father) for the disease to become active. Laura is keen to stress that screening will help identify carriers and has taken positive action by becoming a fundraiser for Viking Genes. Laura told us:My name is Laura Wishart. I am 36 years old and I am from Aith. I have Wilson's disease which is a genetic disorder that prevents the body removing excess copper which causes a build up of copper in several organs like the brain, liver and eyes.I began showing symptoms in 2015 but as Wilson's disease is known to be very rare this wasn't tested for until 4 years later. My symptoms included a severe tremor in all my limbs and neck, dystonia (muscle rigidity and spasms) in wrists, ankles, shoulder and tongue, and psychosis. A ceruloplasmin blood test, MRI of my brain, a liver fibre scan and a slit lamp eye test confirmed I had Wilson's Disease in 2019. I started treatment but was told I would initially get worse before improving. It was then when I lost the ability to walk, eat and speak and was hospitalised for 5 months in Aberdeen. Thankfully I made a miraculous recovery, have no lasting damage from the excess copper and have never felt better. I will be on medication for the rest of my life and have to maintain a low copper diet.I was born with the condition, as my parents, unbeknown to them, were both carriers of Wilson's Disease. Through the Viking Genes health study that was in the news recently, it has been found that Shetland has a higher proportion of Wilson Disease carriers than the general population. This being the case, I want to raise awareness of this condition, which is fatal if not treated. Dr Jim Wilson, who conducted the Viking Genes health study, believes that the Shetland population should be screened for the 10 rare conditions that has been found to be more prevalent in Shetland, one of which is Wilson's disease. To do this, a screening roll out across Shetland would be required, which needs considerable funding. Myself along with others began this fundraising effort by running an online auction on Facebook in November that raised £15,787 for Viking Genes. We were bowled over. We were aiming for 100 lots but the donations kept coming in. The community just rallied together. They know the impact this has on themselves and future generations. If you’d like to read more about this research, visit the link below.Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results Help Viking Genes Fundraisers Shetland This article was published on 2025-01-20
