Frequently Asked Questions
Honest answers to common questions about MVA
About MVA
MVA is an ultra-rare chromosomal disorder that affects how a person’s cells divide. It leads to an unusually high number of cells with the wrong number of chromosomes (a state called aneuploidy), and can impact nearly every system in the body. It’s a lifelong condition that begins before birth and often affects growth, development, and cancer risk.
MVA is extremely rare - with fewer than 50 people currently diagnosed worldwide. It is so uncommon that most doctors will never encounter a case in their career. This rarity makes research and diagnosis challenging, which is why the MVA Society exists: to provide expert support and fund targeted research that can lead to treatment.
MVA is caused by changes in specific genes that control how cells divide. These genetic changes lead to the production of abnormal cells throughout the body. The most common genes linked to MVA are BUB1B, CEP57 and TRIP13.
In most cases, no. MVA usually happens as a spontaneous genetic change, not something passed down from parents. Most families have no prior history of the condition.
There are 3 confirmed types of MVA, each linked to a different gene:
- Type 1: BUB1B
- Type 2: CEP57
- Type 3: TRIP13
Researchers are also studying 4 additional suspected types, but more data is needed to classify them formally.
Symptoms and Diagnosis
Symptoms vary, but many people with MVA experience:
- Premature birth
- Very low birth weight
- Slow growth or short stature
- Developmental delays
- Kidney issues (like nephrocalcinosis)
- Rare childhood cancers (such as rhabdomyosarcoma, Wilms tumour, and leukaemia)
- Distinct physical features (such as microcephaly or facial differences)
- Cataracts
It’s important to note that not every person with MVA will have all of these symptoms, and severity can vary.
MVA is typically diagnosed in early childhood, often after a child presents with unexplained growth problems or a rare type of cancer. In some cases, the diagnosis may come later - even in adolescence or adulthood - especially if genome testing is carried out.
Yes. MVA is a lifelong condition, and people can live into adulthood - with some known cases reaching at least into their 60s. However, ongoing medical support is crucial, particularly due to cancer risk and developmental differences.
Because MVA is so rare, there’s limited data on long-term life expectancy. Many factors - including cancer diagnosis, severity of symptoms, and access to specialist care - can affect outcomes. Some people live long lives, but ongoing monitoring and early cancer detection are key to improving health outcomes.
Treatments and Research
Not yet - but that’s exactly why the MVA Society exists.
Finding a cure for MVA’s underlying genetic causes is complex, but we are building a dedicated research network to explore real treatment options. In the meantime, the best approach is early surveillance, particularly for cancer, and coordinated care with experienced specialists.
We fund ambitious, targeted research that could lead to real treatments - including:
- Drug repurposing: exploring existing medications that may manage symptoms
- Cellular analysis: to understand how MVA affects cells and discover treatment targets
- Single-cell RNA sequencing: mapping the condition at a genetic level to find potential breakthroughs
The MVA Society
Our mission is simple: We fund ambitious research that brings real treatments for MVA closer - and we won’t stop until a cure is in sight.
At the same time, we ensure no one faces this condition alone, by offering expert advocacy, trusted information, and hands-on support across every stage of life.
The MVA Society was founded by a parent after their child was diagnosed with MVA and they found no reliable information, support, or research anywhere online. Today, we’re changing that reality - building a global community and driving forward the science.
We provide:
- One-to-one guidance and advocacy
- Access to world-leading medical teams
- Clear, reliable information
- A safe, supportive community for families and individuals to connect and share experiences
- A platform for rare disease specialists to collaborate
We support anyone affected by MVA, including children, adults, families, and healthcare professionals - across the entire global community.
How You Can Help
You can make a meaningful impact by:
- Joining our Community
- Donating to fund vital research
- Sharing our resources to raise awareness
- Fundraising or organising an event
- Advocating for earlier diagnosis and better care pathways
Still have questions? Email us at info@mvasociety.org and we’ll do our best to help.
Learn more about MVA
Read more information on Mosaic Variegated Aneuploidy