Frequently Asked Questions

The following answers have been written by Jonathan Bracey with the guidance of the supporting medical team to ensure accuracy:

What is MVA?

MVA is an ultra rare chromosomal disorder that is a whole-body condition (meaning it can affect all cells throughout the body). There are 3 identified ‘Types’ of MVA – with MVA Type 1 being the most common, which affects the BUB1B gene. There other 2 types affect the CEP57 gene and the TRIP13 gene. There are a further 4 suspected types of MVA but there is just insufficient data to formalise these cases.

How many people have MVA?

To date there have been around 50 people globally identified with MVA

How many types of MVA are there?

There are 3 main types of MVA identified but there are a further 4 suspected (pending more data) – see the table below from the Science paper (on the Related Publications page)

Is there a cure or treatment for MVA?

Not at the moment. Finding a cure for the underlying chromosomal condition is going to be a tough problem to solve – but the MVA Society is beginning to pull together a focused medical and research team to try and find some treatments that have a positive effect on this. For now though, the best treatment is to ensure high levels of surveillance for cancers (rhabdomyosarcoma, Wilms, leukaemia being the main 3) is maintained.

What are the main symptoms of MVA?

There are a number of symptoms associated with MVA, but they are not always present and can vary between the types of MVA. However, there is a high number of instances of the following – premature birth, low birth rate, low growth rates/very short stature. Kidney disorders such as nephrocalcinosis. Rare childhood cancer such as rhabdomyosarcoma, Wilms tumour (kidney cancer) and leukaemia. Microcephaly (small head) is also listed as a common feature as are features such as facial dysmorphia and cataracts. There is a paper on the ‘Related Publications’ page by WILEY that covers off a lot of characteristics associated with MVA Syndrome.

What age group does MVA affect?

People are born with MVA. Most diagnosis are made in childhood when the child presents with a rare cancer or growth conditions lead to a genetic test being carried out and reveal a condition such as MVA being the underlying cause.

What is the life expectancy of a patient with MVA?

This is a very difficult question to answer (one that I have asked a hundred times since George was diagnosed with MVA). It seems that people can live to relatively old age with MVA (into their 60s at least). However, as this is such a rare condition with such low reported patient numbers, there is little data to support a definitive view. In addition, it seems that the longevity of the patient is also linked to the outcome of their cancer condition (for example if an R0 resection can be achieved then the cancer disease may be resolved). I also have a view that the % aneuploidy is linked to the severity of MVA in the patient (this is just my view and is work in progress!). Please also see the table below which is lifted from the Science paper that is available on the Related Publications page. [I will insert that table on the FAQ page]

What is MVA Society trying to achieve?

The MVA Society is trying to build a community for MVA patients, families and healthcare professionals. Through this we hope to build up a database of patients and experiences. This in turn will help drive the research in better detection and treatment options.

Why was the MVA Society started?

When JB’s son was diagnosed, JB looked on line for MVA resources and literature and found nothing. So, he decided to change that and build the MVA Society to support patients, families and begin to define a strategy to develop better detection and a potential cure.

How can MVA Society help families living with the condition?

The MVA Society aims to provide a range of resources to help patients and families affected by this condition. In addition, it aims to be a focal point – a safe environment to share experiences, challenges and advice. It also of course will be able to act as a focal point for medics, clinicians and researchers in this space.