CDG CARE Newsletter - Extended Version

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The European Reference Networks (ERNs) – Connecting experts, sharing knowledge and information, improving medical care for Rare Disease Patient

In Europe, as in the US, approximately 30 million people suffer from rare diseases.
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Rare Disease Patients are globally dispersed and have different care opportunities depending on their home country. The European Reference Networks (ERNs) aim to tackle these hurdles and allow every single patient to get the best possible care by establishing connection and shortening distances.

​On 28th February, taking advantage of the Rare Disease Day celabrations, the ERNs were officially launched. This is a joint initiative of the European Commission and Member States with support from the European Parliament (learn more HERE) in full cooperation with EURORDIS (learn more HERE).

Currently, there are 24 ERNs each specialized in a group of rare diseases (to know more visit HERE). Among these networks is the  ERN for Rare Hereditary Metabolic Disorders (MetabERN) where CDG are included and represented.

​The ERN’s structure and governance ensure patient involvement. To achieve that EURORDIS created the  ePAGs (European Patient Advocacy Groups). There is an ePAG representative for each disease group. CDG are represented by Vanessa Ferreira PhD (APCDG Founder, Sister to a CDG Patient). To know more visit HERE. 

These virtual networks connect nearly 1,000 healthcare providers across Europe with the aim of facilitating and promoting information exchange, improving treatment and healthcare access, ultimately, accelarating CURES.

Learn more about the tools created by the ERN’s HERE.
See EURORDIS Press Release about the ERN’s launch HERE

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 ***CALL FOR HELP***
Volunteers are welcome to voice CDG patient and families needs
For further information please contact rita.francisco.28@gmail.com

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SAVE THE DATE I 3rd World Conference on CDG for Families and Professionals
On 15-16th July let’s all meet in Leuven together “United Shaping the Future for CDG”

The registrations for the 3rd World Conference on CDG for Families and Professionals (learn more HERE) are now open. REGISTER HERE!

​Where is it? The conference is taking place in Leuven (Belgium). The conference venue is the ParkInn by Radisson Hotel in Leuven, Belgium (more information HERE)

Who is going? The 3rd World Conference on CDG for Families and Professionals will count with 19 expert speakers (meet them HERE), among them are physicians, researchers, healthcare professionals and parents.  Topics will range from Therapies to Disease Management, from Diagnosis to Patient Reported Outcomes, among many others. Curious?

​See the conference AGENDA HERE.
 
Why can’t you miss it? This is an unique event that brings together Professionals and Families. It opens networking avenues, reinforces bonds among the different Community stakeholders. The most up-to-date and state-of-the-art knowledge will be shared.
 
Important information & documents: Please see the conference Booklet HERE
 
Leuven is the birthplace of CDG. Nothing better draw inspiration from the past to plan and help shape the future for the CDG Community!
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CDG & Allies- Professionals and Patient Associations International Network (CDG&Allies-PPAIN): CDG & Liver Working Group

We teamed up to lead a unique research --- the team is HERE

Accomplishments

• A revision of literature on "Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature". (available HERE)
• Based on that research work a patient-friendly document was done for families and professionals (available HERE)
• To complement these projetcs, a new methodology to increase CDG knowledge was set-up –The Liver electronic questionnaire(eLCDGQ) (visit HERE)

Results Sneak Peek

• 203 participants
• The majority of represented patients was under 10 years-old
• The number of female and male represented patients was similar
• 2.6% of represented patients still do not have a full diagnosis (unknown CDG type)
• The vast majority of participants were Mothers

 
 
Dr Dorinda da Silva, is currently analysing the data from the eLCDGQ. We estimate to be able to submit the article on July 2017. thus on september 2017 we hope to have all the results publicly available.