Wolfram Syndrome UK (WSUK) are collaborating with other Wolfram Syndrome Patient Organisations around the world for the first ever Wolfram Syndrome Global Awareness Day on 1st October 2021.
This day will be the 23rd anniversary of the publication of the paper by the late Dr Alan Permutt from Washington University Hospital, St Louis, which first identified the WSf1 gene that causes this syndrome.
The aim of the day is to educate medical professionals and to raise awareness with both the medical world and the public about Wolfram Syndrome (WS), a progressive neurodegenerative genetic condition that affects 1 in 770,000 people in the UK.
The campaign will target Ophthalmology, Endocrinology and Diabetes specialists, colleges and their global organisations about Wolfram Syndrome as these areas are likely to be the first to see a potential patient affected by this rare condition. They will be sent information informing them of what to look out for. By raising awareness, it is hoped that we may be able to identify currently undiagnosed WS affected individuals or doctors may link the symptoms with a patient they haven’t as yet been able to diagnose properly. A dedicated website for the Awareness day with information for any medical professionals interested, as well as the public will go live on 1st October as well, which will include the disseminated information – https://www.globalwsday.org/ .
Wolfram Syndrome has 4 main features: Diabetes Insipidus (water diabetes affecting the bladder), Diabetes Mellitus (insulin dependent diabetes), Optic Atrophy (deterioration of the optic nerve which can lead to complete blindness) and Deafness. There is also the possibility of the sufferer having neurological problems, anxiety, depression and loss of gag reflex to name just a few. Tracy Lynch CEO and Co-Founder of WSUK said “As this is such a rare condition with only about 80 people currently diagnosed in the UK, small charities like us often get overlooked and we have to fight hard to raise funds to support our community. By collaborating with other global WS organisations we hope that we can make our collective voices that bit louder to raise funds but also awareness and hopefully find a cure that bit quicker”. Tracy Lynch is also mother to a 19-year-old who was diagnosed with WS in 2010, she added “watching your daughter’s condition progressively get worse as she gets older, knowing there is no cure or treatment is heart-breaking! She never had a normal childhood as symptoms started to show when she was just 4 years old with hospital investigations nearly every month from the age of 5, to try to diagnose her condition which
eventually came 3 years later. Not knowing how much more she will be affected or how long she will be with us means we have to be positive every day and make things as fulfilling and normal for her as we can.”
There is no cure for WS, but current research is looking hard for a treatment. You can help to support this desperately important work. There are several ways that the public can help us. Just by sharing information about us, following our social media pages can have an impact on raising awareness which could help someone get diagnosed. Even a small donation can have a big impact on the work that WSUK does in supporting our community.
There are many ways donations can be made from doing an ordinary online shop, or just as a one off. Ways to do this can be found on the ‘Get Involved’ page on WSUK website www.wolframsyndrome.co.uk . We have also created a Facebook fundraiser page specifically for the awareness day https://www.facebook.com/donate/174991438091775/.
Editor’s note
Wolfram Syndrome, also known as DIDMOAD is an ultra- rare condition that affects 1 in 770,000 in the UK, with about 90 children and adults currently diagnosed in total. It is a progressive life shortening neurodegenerative condition that affects each individual differently; causing vision and hearing loss as well as 2 different types of diabetes. It can also cause other significant medical and neurological complications. There is currently no cure but a drug trial has recently started in the UK on a drug that should slow down or even halt the progression of the syndrome. There are currently between 6000-8000 rare diseases around the world. Many doctors will never come across a person with Wolfram Syndrome in the whole of their working life.
Wolfram Syndrome UK was set up in 2010 by the parents of a young girl who was diagnosed that year at the age of 8. They support those affected and their families. They fundraise to support research as well as for events for their members such as an annual information and support day. To find out more go to their website www.wolframsyndrome.co.uk ; contact the office on 01903 211358 or email admin@wolframsyndrome.co.uk.
Datum: 1 october
Bron: wolframsyndrome
