FAQs & Resources

Frequently asked questions

How can I/someone I know get a diagnosis?

If you think you may have Marfan syndrome, you need your family doctor to refer you to a geneticist. Marfan screening clinics can be found within Regional Genetic Centres. Please email below to find out more information about your local Genetic Centre.

Is there a cure for Marfan syndrome?

At the moment there is no cure for Marfan syndrome, no matter how early in life the condition is diagnosed or how mild the symptoms are. The important point is that treatment is available for each of the health problems that can arise in Marfan Syndrome. The earlier the treatment is started, the greater the possibility of preventing complications. New medications are on trial, and promise to lengthen lifespan.

How do I get help in planning an unaffected baby?

Initially, ask your GP to refer you to your Regional Genetics Unit for genetic counselling. Prenatal diagnosis is available at 11 weeks of pregnancy if a mutation is found in the affected parents’ Marfan gene. Preimplantation genetic diagnosis using In Vitro Fertilisation (IVF), is available through the NHS for couples who do not have an unaffected child already. This complex technique is available privately to all, but is expensive. Your genetic counsellor will refer you on if you are suitable for this technique.

I have Marfan syndrome and want to go on holiday. Are there any specialist insurance companies who will insure people with pre-existing medical conditions?

Your doctor can provide a letter stating that you are mildly or moderately affected. This may reduce the cost of the insurance. If you are having difficulty in obtaining travel insurance, try a specialist medical insurer.

Orbis

Orbis offers travel insurance for people with impaired lives.
Tel No: 01424 215315 | Website: www.orbisinsurance.co.uk

Freedom Insurance

Freedom is a specialist travel insurance company, offering quality
pre-existing medical conditions travel insurance.
Tel No: 01223 446913 | Website: www.insurewithfreedom.co.uk

All Clear Travel

All clear travel offers travel insurance for many medical conditions,
including heart conditions that are often refused by other insurance companies.
Tel No: 01708 339295 | Website: www.allcleartravel.co.uk

Organisations we work with or are members of:

Pain UK : "Pain UK is an alliance of charities providing a voice for people in pain. We were founded in November 2011 and registered as a charity in January 2012. Since then, our membership base has grown rapidly and we now support charities dealing with all manner of painful conditions, from head to toe". To find out more visit their website painuk.org

The Specialised Healthcare Alliance: "Is a coalition of patient-related groups and corporate members with a strong record of campaigning on behalf of people with rare and complex conditions in need of specialised care. These services cover a wide range of conditions, many of which could affect any one of us at some point in our lives". To find out more about the Alliance please visit their website www.shca.info

Other charities we work with:

Kidscape UK Register Charity (326864) “Kidscape have been going since 1985, they have worked tirelessly to promote the anti-bullying message and shine a spotlight on child protection issues." To find out more visit their website www.kidscape.org.uk

Respect Me (Scotland) Scottish Charity No SC-008897They work with all adults involved in the lives of children and young people to give them the practical skills and confidence to deal with children who are bullied and those who bully others." To find out more visit their website www.respectme.org.uk

Anti-Bullying Alliance (is a partnership body based at National Children's Bureau) UK Register Charity 258825. “The Anti-Bullying Alliance is a coalition of organisations and individuals working together to stop bullying and create safe environments in which children and young people can live, grow, play and learn." To find out more visit their website www.anti-bullyingalliance.org.uk/

The Cyber Foundation UK Registered Charity (1147576) They also have a help centre on their website which can provide various kinds of help for example, parents, teenagers, pre-teens, adults. To find out more visit their website www.cybersmile.org

The Marfan syndrome Support Group (Ireland) Registered Charity No: CHY 13401 Is a small registered charity in the Republic of Ireland, established in 1999. The Group provides emotional and financial, (if required), support to patients and families impacted by Marfan syndrome and Loeys-Dietz syndrome in Ireland. Awareness of both conditions is also a huge priority of the Group. They encompass the entire island, and have some members living in Northern Ireland. To find out more about the work they do visit their website www.marfan.ie/

Marfan Trust Information Leaflets:

Find out more about the charity Marfan Trust Leaflet

Marfan Trust Guide to Marfan syndrome

Marfan Trust Dental Guide to Marfan syndrome

Marfan Trust Exercise Guide to Marfan syndrome

Marfan Trust Bowel Symptoms in Marfan syndrome

Marfan Trust Care of symptomatic Hypermobile Joints

Marfan Trust ENT Aspects of Marfan Syndrome

Marfan Trust Growing Older with Marfan Syndrome

Marfan Trust Musculoskeletal Problems in Marfan syndrome

Marfan Trust Pregnancy in Marfan syndrome

* New * Marfan Trust Paediatric Guide

Suggested resources:

Treehouse At Number Nine –found on iTunes store under Books is a book that reads aloud with music, colourful, bright and fun characters, it is designed to keep young people engaged and to learn about young people who have rare genetic disorders. It was funded by Jeans for Genes/ Genetic Disorders UK and all money raised by purchasing the book goes towards genetic disorders charities. Website: www.treehouseatnumbernine.org

Genetic Disorders UK (Registered charity number 1141583) Is a large charity that covers a variety of genetic disorders and has a lot of resources that you may find very useful? They have pages with information for parents, who children have been diagnosed with a genetic disorder, www.geneticdisordersuk.org/parentsofaffectedchildren which has information about education, management, support and living with genetic diagnosis. More information about how to share your diagnoses can be found here on their website www.geneticdisordersuk.org/managingthenewswithinyourfamily

Genetic Alliance UK (Registered charity numbers: 1114195 & SC039299) Produce a lot of information leaflets which you can download from their website for free, they work towards improving the lives of people affected by genetic disorders through making information available to “all who need them”. www.geneticalliance.org.uk

The Council for Disabled Children (National Children's Bureau - Registered charity No. 258825) The Council for Disabled Children (CDC) works to make a difference in the lives of children with disabilities and children with special education needs. “We do this by influencing Government policy, working with local agencies to translate policy into practice and producing guidance on issues affecting the lives of disabled children.” www.councilfordisabledchildren.org.uk

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