Prevention is better than cure!

Learning from the International Federation for Spina Bifida and Hydrocephalus

Alexandra had spina bifida as a babySpina bifida and hydrocephalus are two of the few rare diseases recognised by the European Union as frequently preventable. Spina bifida is a malformation of the spinal cord that occurs during the early stages of pregnancy. It is a neural tube defect (NTD), one of a group of birth defects that are the result of the failure of the neural tube to close during early foetal development. With Spina bifida, there is usually nerve damage that causes at least some paralysis of the legs. Over 85% of children with Spina bifida also have hydrocephalus (also known as "water on the brain"). Hydrocephalus is the abnormal accumulation of cerebrospinal fluid in the cavities of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, blindness and mental disability.


Unfortunately there is no cure for these disorders, but there are effective preventive methods to avoid them from occurring or to prevent complications and aggravating disabilities. The International Federation for Spina Bifida and Hydrocephalus (IF) has been working for more than 15 years to promote preventive measures associated with the disorders. An important part of their action focuses on primary prevention, promoting folic acid as food fortification or as a supplement, as an effective means of protection against NTDs. 


IF capacity building workgroup relating to the first report on prevention of NTDsTheir latest campaign “Act against Europe’s most common birth defect - the right advice at the right time can reduce Neural Tube Defects now” aims at reducing the prevalence of NTDs in Europe by convincing policy-makers to include folic acid as a prevention strategy into their health plans. The work, carried out in conjunction with Bayer HealthCare Pharmaceuticals, has produced two reports backed by evidence from the European Surveillance Registry for Congenital Anomalies (EUROCAT). The first report provided a policy and situation overview regarding NTDs across a sample of EU member states (France, Germany, Italy, Poland, Spain, Sweden and UK). The second report, launched in June 2011, gives an update and overview of the situation in 25 European countries. The campaign is expected to renew discussion on the importance of primary prevention and to develop best practice consensus to make meaningful progress.


"Although research indicates that up to 70% of NTDs can be avoided by adequate folate levels before conception, progress to reduce their incidence is disappointing. Moreover the impact of mass education campaigns is limited, it is only effective for the period of time it is going on and many women of childbearing age fall through the cracks. This is why we decided to join forces with Bayer HealthCare Pharmaceuticals and EUROCAT to raise awareness of the need to improve prevention of NTDs in Europe so that it is integrated into public policy,” argues IF President Pierre Mertens.


Fortification of flour with folic acid is now widespread in North and South America and in much of the Middle East. Countries with this policy have seen a decline in NTD rates. There is no mandatory fortification policy in Europe “mainly because governments in Europe want to defend the consumers’ right to freely decide their diet,” explains Pierre Mertens. The report also mentions concerns about possible health risks related to raising the folic intake of the whole population. However, the level of folate needed to prevent NTDs has been proven as safe.


The occurrence of NTDs is not rare, with 1 in 1,000 pregnancies affected, but their prevalence has become rare in Europe, mainly due to proactive terminations of pregnancies. The report reveals that almost 50% of pregnancies terminated in Europe, between 1980 and 2002, were terminated because of prenatal diagnosis of NTDs. “We believe that the ultimate aim is a healthy baby, not abortion,” says Pierre Mertens. “That is why primary prevention is always the best option, because the same child will be born, but without a disability”.


Chapter 5.10 of the Commission Communication on Rare Diseases, adopted in November 2008, states that primary prevention measures on rare diseases will be taken when possible, and uses the prevention of neural tube defects by folic acid supplementation as an example to follow. “Naturally this is a very important statement to our organisation. In order for Member states to actually take primary prevention measures we believe it is important that NTD prevention is included in every National Action Plan for Rare Diseases,” says Renée Jopp, Information Officer at IF.


The Spanish have already showed the way by including prevention and early diagnosis of NTDs in their National Plan for Rare Diseases. In France the Ministry of Health’s Working Group on Rare Diseases included the Spina Bifida Reference Centre, and primary prevention of NTDs, in particular the question of flour fortification, in their 2010 discussions.


“EURORDIS has accepted to be associated with the second report and to take direct action in support of prevention of NTDs, in close collaboration with IF. EURORDIS is co-sponsoring an event at the European Parliament, contributing to the dissemination of information to the rare disease community, organising a capacity building session on primary prevention for our members, and advocating to include primary and secondary prevention in the EUCERD Work Programme over the next years, in order to debate and possibly adopt clear recommendations for Member States,” concludes Yann Le Cam, CEO of EURORDIS.


More information:

View presentations from the Brainstorming and Policy Development session on Prevention at the EURORDIS Membership Meeting 2011 Amsterdam.


Read IF-Bayer HealthCare reports:

Report 1: Act against Europe's most common birth defects - The right advice at the right time can reduce Neural Tube Defects now

Report 2: Act against Europe's most common birth defects - One year on: defining Neural Tube Defect prevention strategies in Europe including 2 factsheets endorsed by EURORDIS.


IF Executive Workshop "Making our network stronger - Raising awareness on prevention”, Brussels, June 28, 2011


EURORDIS article on ARSBH developing parity of treatment in Europe for Spina Bifida and Hydrocephalus

This article was first published in the July 2011 issue of the EURORDIS newsletter
Author: Paloma Tejada
Photo credits: © IF

Page created: 16/06/2011
Page last updated: 06/08/2013
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