Written by the MVA Society

The MVA Society (mosaic variegated aneuploidy) was founded by Jonathan Bracey, after his two-year-old son, George, was diagnosed with this ultra-rare condition in August 2023.  The lead into his diagnosis saw George admitted to GOSH with the rare childhood cancer, rhabdomyosarcoma—located in the middle of his liver, inside his bile duct.  After the toughest of years, George finally got through this ordeal thanks to a groundbreaking operation to remove the tumour (using nano knife technology in conjunction with a resection). 

At that time—the summer of 2024— focus switched to a diagnosis of mosaic variegated aneuploidy (MVA). When looking for organisations available to support this ultra-rare condition, none were found.  “Even the rare disease organisations struggled to offer much specific guidance on this condition”, Jonathan explains. 

Jonathan decided to do something about this and set about founding the MVA Society.

What is MVA?

MVA is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. In MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include; a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumour, and a cancer of the blood-forming tissue known as leukaemia.  It was George’s rhabdomyosarcoma that led to his MVA detection.

Creating a new fledging support group

The MVA Society is still very much in its infancy but is taking shape quickly with a clear plan in mind and a highly experienced Board of Trustees.  Jonathan sets out their vision; “It is simply dedicated to understanding and supporting those affected by MVA.  We believe this is the first (and only!) dedicated organisation and site for MVA.”

The aims of the MVA Society are three-fold:

• act as a patient advocacy support and information resource
• build a community of practise and patient cohort
• investigate research into screening, surveillance and treatment of MVA

The MVA Society aim to develop more patient and family literature to support those affected with this condition.  It will also become the main focal point for clinical papers that have been published on this condition. 

“As of writing this article George continues to do well, although what the future holds instore is still very much unknown.  There is just insufficient data currently to predict how this condition will affect George,” Jonathan explains.

But through the MVA Society there is hope that more patients will come together to share their experiences and form a more coherent patient cohort.  That in turn, will allow much better research to be undertaken to tackle this ultra-rare condition. 

To date, George has started nursery and had his Hickman Line and NG tube removed signalling positive progress.  Dad, Jonathan remains optimistic:

“There is every hope that George will continue to thrive and grow into a relatively healthy little boy.  There is always hope.”

The MVA Society would love to hear from you . Please feel free to contact them via email:  info@mvasociety.org or follow them on Facebook and LinkedIn @MVASociety.

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