The rare disease community around the globe join hands today for a better future
Today we commemorate 6 years of Rare Disease Day and once again rare disease communities around the world are joining hands to show solidarity and generate awareness. Rare Disease Day is coordinated by Eurordis with national alliances across 24 European countries and was celebrated by 63 countries worldwide in 2012. This year several new countries– including Bahrain, Iceland, Israel, Palestine and Singapore-will also be partipipating. For the past 6 years, this day has been a significant benchmark of how far we have come in our quest to help rare disease patients. It is also a day of reflection to acknowledge how much more can be achieved if we work collectively. In the spirit of global collaboration, the slogan this year “Rare disorders without borders” expresses the need for reaching across and sharing knowledge and resources to further the cause of the rare disease community. This year's official video for Rare Disease Day 2013 has been received enthusiastically, with more than 13,000 views on youtube! Several people provided their services free of charce to produce this video which is available in 10 languages. Patient organisations featured in this video are members of the Associazione Italiana Sindrome di Noonan, Duchenne Parent Project and Xeroderma Pigmentosum Society. Other than participating in the events and activities organised by the rare disease community in your part of the world, you can also upload your story and photos on the Rare Disease Day website. A prelude to the Rare Disease Day was the meeting in Brussels on 26 February 2013 where “Eurordis and Members of European Parliament Ms Antonyia Parvanova (Bulgaria) and Mr Cristian Silviu Buoi (Romania) co-hosted a multi-stakeholder policy event to examine how different policy measures can help improve access to therapies for rare diseases”. This meeting precedes the vote in the plenary session of the Parliament for “EU Transparency Directive on medicinal products”. The participants highlighted “the need for transparency around pricing and reimbursement of medicinal products” and discussed how faster, more equitable access to medicines can be achieved.
Consult the official Rare Disease Day website
The aim of this study published in European Journal of Medical Genetics was to evaluate the opinions of future parents on being informed about the Cystic Fibrosis (CF) carrier status of their child. This study was part of an extensive research initiative in the Netherlands to address two novel strategies for Newborn Screening for Cystic Fibrosis (NBSCF). Data was obtained using a focus group format, where expectant parents were first provided information “about CF, the newborn screening program, how carriers were identified and the consequences of being a carrier”, following which “the participants filled in a short questionnaire individually”. The authors report that although all parents agreed that they should be offered a choice on whether they want to be informed or not, a majority of parents (95%) wanted this information at their disposal. They provided varied explanations for this reasoning: “First, parents want to have the opportunity to test themselves for their carrier status to determine the risk for CF in subsequent pregnancies and to take well-informed reproductive decisions. Secondly, to inform their child because knowing the risk of being a carrier of CF may influence reproductive choices in his/her future. Third, the extended family members could be informed and decide whether or not they want to be tested.” 
A countrywide French study published in the American Journal of Obstetrics and Gynecology evaluated the efficacy of maternal serum markers to detect Down syndrome for women who book late for maternity care. Under the French guidelines, Down syndrome screening is offered to every pregnant woman at a specific period of time during their pregnancy. These are “from 14+0 to 17+6 weeks for second-trimester screening and from 11+0 to 13+6 weeks for first trimester screening”. However, some pregnant women do not have an opportunity to avail of this facility at the stipulated time period. The authors note that about ”6.6% of pregnant women have their first prenatal visit during the second trimester and 1.2% during the third trimester, and therefore do not undergo prenatal screening. To combat this issue, "women of all ages were included in a Down syndrome screening using maternal serum markers alpha-fetoprotein (AFP)" from 2007 to 2012. The authors compared this screening group with the standard second trimester control group and reported “that late maternal serum screening is feasible with a good sensitivity/specificity compromise throughout gestation, and may be of clinical value in late-booking women.” 
An Australian study published in Orphanet Journal of Rare Diseases, examined the burden and needs of families with children affected by a rare disease. The authors provided a "pre-validated self-administered survey for parents/carer, to forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children's Hospital at Westmead, Sydney". Similar to the results from the EurordisCare2 survey, this survey demonstrated that although most families were satisfied with the manner in which the child’s diagnosis was first disclosed, about 40% of families were displeased with the delay they experienced to receive the diagnosis. The authors note that “delay in diagnosis can have medical consequences such as a delayed treatment, unnecessary tests, and psychological stress for the family,...(indicating) a need for better education of health professionals”. The survey revealed that over 75% of the families reported significantly “high levels of psychological and financial stress”. Moreover, some families failed to receive any "psychological support following diagnosis”, indicating a serious and urgent “need for psychological support from mental health professionals, counselors or peer support groups”. Although the authors recognise the existence and support of patient groups such as Association of Genetic Support of Australasia and Genetic Alliance groups, they emphasize that there is “a lack of a coordinated approach to advocacy for people living with rare diseases in Australia”. Interestingly, general practitioners (GP) were believed to play a pivotal role in management and care of patients by these families. The authors say that the GP’s themselves “have called for a systematic, primary-care approach to rare disease to assist them in managing patients and families, thereby reducing diagnostic delays, providing care coordination, and providing an extra avenue for access to psychological support”. In conclusion, the authors believe that this survey “demonstrates impacts on families and on health services in a small, well described group of Australian children diagnosed with a genetic metabolic disorder” and the insights obtained from this survey “could be applied across a spectrum of rare diseases”. 
An article published in Genetics in Medicine describes a “website that provides a reliable source of information to individuals at risk for the disorder and their loved ones, in addition to support and resources that may be useful when considering Predictive testing (PT) for Huntington Disease (HD)”. PT is a significant decision as it is “an irreversible decision of great consequence, with psychological and emotional implications”. It is very important that adequate psychological support is provided during this process. Since obtaining one-on-one genetic counselling and education is time consuming and expensive the website described by the authors appears as a good solution for people undergoing PT for HD. In addition, the authors also “used mixed-methods approach including a literature and existing resource review, and an interview study of those at risk for developing HD, followed by the development, pilot test, and modification of the website to ensure this educational resource would meet future users’ needs, this project involved”. The study reported that the subjects were mainly satisfied with the website and a preference for “narratives supported by empirical studies on patients’ needs and desires”. The interviewees reported a feeling of comfort when hearing stories of others and did not feel isolated. A need for a balanced approach and diversity of stories was also emphasised. 
