MEETING WITH “OUR LITTLE STARS”

The organisation « Our Little Stars » welcomed us for a day of sharing and awareness raising of organisations working for sick or disabled children. We set up our stall together with Solhand’s and many others, in the gymnasium of Cruseilles. Informing, getting known, sharing, , handing out our little survey and selling a few items knitted by the volunteers of the Malakoff-Mederic Relay, we had no time for rest….

According to the rules of « Our Little Stars », profits made by the professionals that were present were equally shared between all the non-profit organisations attending the day. This is why we received a cheque for € 140.

The day ended with a moving baloon release symbolizing the 2,500 children suffering from cancer, each year, in France.

Many thanks again to « Our Little Stars » for this wonderful day. It is diarized for next year.

During the day, we handed out a survey to visitors and exhibitors . 66 people answered our questions

Less than half of the respondents were able to give the exact definitions of  rare (45%) and orphan  (33%).

Only 43% of people know the number of known rare disorders and 32% the number of people suffering from rare disorders in France

On the other hand, globally, the general public knows that rare disorders are not all known,  not all visible, not all genetic, not all with a physical expression, and do not all have a treatment.

A few people (1%) think that patient organisations are funded by the government and some (11%)  think all the patients’ organisations benefit from the funds collected during the French Telethon. …… and that is not the case….Alas !!!!

Thus there is still a lot of information to spread to the general public.

 

 

A New Type of Cutis Laxa

In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa :  Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.

« French people and Rare Disorders »

This is a survey carried out for the ‘Fondation Groupama’. Its aim is to understand and analyse the French people’s gaze on people suffering from rare disorders. The results are very interesting.:

  • 82% think people suffering from rare disorders face difficulties in their life at work or at school ;
  • 81% consider that patients may also face difficulties in their daily life (accommodation, transports, sports,….).;
  • 78% consider that patients do not automatically get an allowance ;
  • 74% think that the expenses linked to the disorder are not all reimbursed ;
  • 43% think that one of the parents must stop working when a child has a rare disorder ;
  • 88% think that a child suffering from a rare disorder can go to school

But sometimes they underestimate the difficulties: 83% think patients can lead a normal social and relationship life and 78% that they can have children.

Lastly, for French people, efforts must be made to ease the life of patients suffering from rare disorders. They identify the two main priorities for action:

  • Supporting the families of people suffering from rare disorders (61%) ;
  • Improving the economic support for patients (59%).

Half of the respondents (54%) also consider that the main priority for children with a rare condition is to go to school and half of the respondents think new technologies must be developed  to ease the daily life of people suffering from rare disorders. (©orphanews 2018.03.28)

Brexit: How might it affect health and healthcare in the UK

A study published in The Lancet approaches the Brexit situation from a healthcare point of view by defining three possible scenarios around its potential impact on health care. The study mentions the European Reference Networks in the European Union, referring to their importance in providing healthcare support to EU patients across the EU. Reciprocal healthcare arrangements and the consequences of losing these measures post-Brexit are cause of rising concerns in the ERN communities. ERNs are an important mechanism in facilitating access to health care for many rare disease patients and Brexit could be potentially detrimental for patients across the EU.   (©orphanews 2018.01.22)

ERN logo

European Reference Networks (ERNs)

After a whole year of tangible work, we need to take stock of the ERNs :

  • Virtual Patient Care:

Since November 2017, ERNs now all have access to a dedicated Clinical Patient Management System (CPMS), through which are provided virtual, cross-expert and cross-border consultations for real patients whose cases warrant the pooling of knowledge across the ERN community. Virtual case review has been acknowledged as being the heart of the ERNs.

  • Data Integration and Interoperability:

This question of data interoperability and ‘linkability’ will be an important focus of five ERN-specific grants awarded last year through the European Public Health Programme. A Call had been launched, to provide ‘support for new registries’ based upon ERNs.

  • Financial Support for ERNs:

Importantly, the European Commission continues to provide non-competitive funding opportunities to all of the Networks, essential ERNs to operate. Very recently, the ERNs submitted applications for their second year of coordination funding, and the 2018 Public Health Programme has earemarked € 13.8 Million to ERNs for the next three years.

  • Governance Structures of the ERN Coordinators Group :

During 2017, the governance model of the 24 ERNs was developed to ensure collaboration and avoid duplication of efforts in many key areas of activity. The ERN Coordinators Group (ECG) was formed. Several workshops were organized, focusing on data sharing, research, ethics, cross border healthcare, guidelines or education.

  • RD-ACTION Support

Following the workshop on ERNs and Clinical Practice Guidelines, several documents (including Recommended Practices relating to Clinical Practice Guideline activities) are in preparation, through the partnership between the RD-ACTION organisers and the ERN Working Group on Guidelines, Education and Training in particular. Two more workshops of particular relevance to ERNs will be organised : one on Integrated, holistic care for rare disorders (via the INNOVCare project), and one on ERN added-value to clinical research. Meanwhile, the activities of EURORDIS continue to foster engagement of patients via the ePAGs (European Patient Advisory groups), which now number around 150.

  • Future Expansion of ERNs

An important topic for 2018 will be how to manage the expansion of the 24 ERNs, in terms of integrating new members and also agreeing how to bestow the status of ‘affiliated’ partners.  The ERNs’ goal is to recruit new members in a logical, strategic way, to ensure a comprehensive coverage of all rare conditions, and also to maximise geographical coverage by encouraging all eligible countries to participate.

(©orphanews 2018.01.31)

Extension of the care leave for the parents of children with disabilities in Belgium

On 22nd January, during the National Council on Work, the Belgian Federation of Companies (http://www.feb.be/), The Belgian General Federation for Work (http://www.fgtb.be/) and the Confederation of Christian Unions (https://www.csc-en-ligne.be/) announced the extension of the criteria by which parents of children with disabilities can obtain care leave. The defining parameters of a ‘child with disabilities’ and the time-credit for care leave are widened and the leave allowance increased. The child’s physical disabilities, their decision-making capacity, their independance as well as the family burden will, from now on, be considered.

(©orphanews 2018.03.28)

Italy – Leaflet new national rights in healthcare

Italy : The National Observatory on Rare Disorders (OMAR www.osservatoriomalattierare.it ) in collaboration with Orphanet Italy  wrote a leaflet to give patients and healthcare providers a friendly user guide to help them understand the latest additions linked to the new national rights in healthcare. The guide has a list of the new legislation, a brief description of the new disorders added to the former list and advice on receiving financial and non-financial benefits.

cmgg-Pr Bert CALLEWAERT

Research on Cutis Laxa in Europe

ERN-Skin’s aims are, among others, to improve patients’ follow-up and to help research. Within this framework, it is essential that patients, as well as doctors concerned by Cutis Laxa, help research projects. No research can be done without everyone’s involvement.
If you wish to take part in research on Cutis Laxa in Europe, please get in touch with the coordinator concerned with Cutis Laxa :

Pr Bert CALLEWAERT Read more

Welcome

We are happy to welcome the brand new members :

Laurie and Zachary, Charlotte, Addison, Andrei, Alexandra, Juan Camillo, Vihu, Junot Neto, David, Isabelle, Olliwier, Rhoda as well as Zara’s brother and sister,

A warm welcome to all of you in our big family.

355 patients spread over 55 countries across 5 continents, is the number of people suffering from Cutis Laxa who joined Cutis Laxa Internationale as of today.

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EURORDIS published the results of the first European survey on the social impact of rare disorders :

According to this survey, rare disorders have a major impact on the daily living of over 80% of patients and their families. Juggling daily care and its coordination represents a real burden for patients and their families. That is :

  • 42% of respondents spend more than 2 hours a day on a patient’s necessary care ;
  • 62% of respondents spend more than 2 hours a day on tasks linked to the disorder, whilst almost one third spend more than 2 hours a day for a patient’s necessary care ;
  • At least 64% of the carers are women ;
  • 38% of respondents could not go to work because of health issues lasting more than 30 working days over the previous 12 months;
  • 41% of patients and carers needed a special leave but could not get it..

The survey also covers the daily impact of rare disorder, especially mental health, employment or financial impacts.