CDG Patient Groups and Advocates

“Nothing about us, without us”- James Charlton

Patient, family members and patient advocacy groups refused to be passive victims by welcoming and supporting any initiative to the rare disease landscape that are seriously committed to developing safe, effective treatments for patients. Due to the specificities of rare diseases, patients and family members are amongst the most active drivers to foster awareness, education and research.
This section aims at liaising all stakeholders and at being a vehicle to promote collaborative work. A complete directory of CDG patient advocacy groups as well as local patient representatives is offered.

CDG Patient Advocacy Groups

Portuguese Association for CDG (APCDG)

The Portuguese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR) is a family non-profit organisation entirely run by volunteers. Their efforts are focused on forming a multi-stakeholder network, aimed at bringing together families, patient organisations, clinicians, researchers, healthcare professionals and pharmaceutical companies. The APCDG actions have a national and international dimension. and the  efforts are focused on:
  • boosting awareness,
  • increasing information,
  • potentiating education on CDG and
  • fostering breakthrough research with the single goal of finding therapies in our lifetime.
Learn more about APCDG projects at:
Website: http://www.apcdg.com/
Facebook: https://www.facebook.com/SINDROMECDG
Email: sindromecdg@gmail.com

CDG Care (USA)

CDG CARE (Community Alliance and Resource Exchange) is an USA nonprofit organization founded by parents seeking information and support for a group of disorders known as Congenital Disorders of Glycosylation (CDG).

The mission of CDG CARE is to promote greater awareness and understanding of CDG, to provide information and support to families affected by CDG, and to advocate for scientific research to advance the diagnosis and treatment of CDG.
Learn more about CDG CARE by reading Andrea's Berarducci presentation available at  http://www.apcdg.com/education.html
More information on CDG CARE actions:
Website: http://cdgcare.com/
Email: info@cdgcare.com
Please read the CDG Care Newsletter
  • Volume 1 is available HERE
  • Volume 2 is available HERE.
  • Volume 3 is available HERE

Spanish Association for CDG (AESCDG)

The Asociación Española Síndrome CDG (AESCDG) is leaded by a group of parents and family members affected by the CDG syndrome. Their mission is centered on:
  • Providing information about the CDG syndrome to diagnosed families.
  • Increasing awareness
  • Promoting lobby within government to boost diagnosis and treatment options
  • Increasing educational opportunities focused on CDG
  • Boosting research with therapeutic dimension
More information on AESCDG:
Website: http://www.aescdg.com/
Facebook (public group): https://www.facebook.com/groups/47286836357/
Facebook (closed group): https://www.facebook.com/groups/1264105350282198/
Email: aescdg@gmail.com

Foundation of Glycosylation (FoG), Canada

Foundation Glycosylation (the FoG) was established in the Atlantic Canadian province of New Brunswick. The non-profit foundation supports research for the development of therapies targeting CDG, aims to raise awareness of the disorder and strives to advocate for individuals living with this enzyme deficiency.
The FoG was established by the family of a young girl living with CDG-1L (ALG9-CDG) with the support of the Saint John Regional Hospital Foundation and is currently supporting the collaborative research of scientists at the University of New Brunswick, Dalhousie University and the Saint John Regional Hospital.

Please learn more and contact FoG:
Website: http://www.thefog.ca/main.html
Emails: Duncan.Webster@HorizonNB.ca or SJRH.Foundation@HorizonNB.ca

Amour Fund

Amour Fund of Alpha Epsilon Omega Foundation is a US based 501(c)3 nonprofit organization. Amour means ‘Resilient’ in Armenian and ‘Love’ in French. It’s not a coincident that CDG kids are 'Amour'. Our goal is for children with CDG to be ‘Amour’ so that they can live to their fullest potential, walk, talk, smile and laugh like all children. The ultimate vision of the Amour Fund is to find a cure for Congenital Disorders of Glycosylation (CDG) by supporting CDG research. Amour Fund honors disadvantaged children, raises awareness about rare diseases, advocates for screening, and provides assistance to those in need.
The mission of the Amour Fund is to: 
  • Fund research for developing a cure and treatment for CDG 
  • Advocate for CDG screening 
  • Raise awareness about CDG 
  • Provide assistance to CDG families


More information on Amour Fund:
Website: http://www.alphaepsilonomega.org/foundation/amour/
Facebook: https://www.facebook.com/AmourFund/
Twitter: https://twitter.com/AmourFund
Email: AmourFund@AlphaEpsilonOmega.org

Les p'tits CDG (France)

The P'tits CDG is a non-profit association working for and with families affected by the syndrome CDG. It is focused on:
  • Connecting CDG families
  • Encouraging fanilies to share experiences
  • Organizing events
  • Connecting with organizations in the field of cerebellar diseases and related
More information on Les P'tits CDG:
Website: (under construction)
Facebook: https://www.facebook.com/lesptitscdg/
Facebook (leaded by family members): https://www.facebook.com/groups/490381534327886/
Email: http://www.lesptitscdg.org/ressources/contactez-nous/

Glycokids (Germany)


An important task of the German Association CDG Syndrome Association is to connect families affected by CDG and to boost exchange of information. Every year Glycokids organises family meetings between families across countries.

More information on Glycokids:
Website: https://www.cdg-syndrom.de/ueber-uns.html
Facebook: https://www.facebook.com/profile.php?id=100006606678971&fref=ts
Email: Bundesverein@cdg-syndrom.de

CDG Sweden


The Swedish CDG association is a unifying force for the CDG-affected families in Sweden. The organization works to promote research in the field and disseminating information about the syndrome. Additionally, regular meetings with both children and parents are organised once per year.

More information on Swedish CDG association:
Website: http://cdgforeningen.se/
Email: annekristinottosson@gmail.com

CDG UK


CDG - UK is a very recently registered charity set up by parents of affected families. Soon more information will be available.

More information on CDG - UK:
Website: http://www.cdg-uk.org/
Email: cdgukcontact@gmail.com

CDG Denmark


The Danish CDG association aims to create and faciltate networking between families with CDG. The members of the Association meet once a year for a family weekend . There courses and lectures for parents on relevant topics are held. Family Weekends are an important focal point for families, and is composed by professional and social content.

Further information on Danish CDG association:
Website: http://www.cdgforeningen.dk/

CDG Italia

CDG Italia aims to promote awareness, information and research as well as to facilitate communication and networking among CDG families. CDG Italia also organizes several events.

Contacts: cdgitalia@cdgitalia.org
Facebook: CDG Italia
Wesite: http://www.cdgitalia.org/  
CDG Swiss aims to identify and unite Swiss families. Firstly, among themselves and then with the wider, international CDG Community. CDG Swiss is committed to raising awareness for CDG, stimulating Commuity-building and creating a strong support network.
Contact: tatiana.rijoff@gmail.com
Facebook: CDG Swiss

CDG patient representatives

In some countries, there is not a formal CDG patient advocacy group. Although, there are dynamic CDG patient advocates who dedicate in a generous manner time and efforts to help us uniting in one voice the needs faced by CDG families. In addition, several are involved in improving and making accessible information for the local families by for example, translating and revising resources.

Czech Republic


Michaela Špeciánová  is an active CDG patient advocate that in a volunteer manner represents the voice of CDG patients in Czech Republic. Michaela is doing incredible efforts focused aimed at increasing awareness and information about CDG in her country. Additionally, she aims at liaising families and professionals.
She collaborates with several CDG patient groups . You can see the infographics that she translated to Czech HERE 
Michaela's daughter, Tereza is  8 years old and suffers from CDG.
More information about Michaela's activities and CDG in Czech Republic:
Website: http://www.cdgsyndrom.cz/
Facebook: https://www.facebook.com/groups/cdgsyndromcz/
Email: specianova.m@atlas.cz

Italy and Ireland


Barbara Vulso is actively representing CDG in Italy and Ireland. She is helping to boost CDG awareness and advocating for expeditous research for a cure. Barbara has strong communications skills which is fundamental to achieving the CDG patient advocacy groups goals of curing CDG. Her son, Leo is affected by CDG.

Please, learn more about Barbara daily live by reading her Powerpoint presentation or watching her oral session presented during the Second World Conference on CDG 2015 held in Lyon (France) and available HERE 
​
To learn more on the CDG Italian community:
Facebook (public group): https://www.facebook.com/CDG-Italia-560113067410176/
Facebook (closed group): https://www.facebook.com/groups/1427480807506050/
Email: barbara.dagmaar@gmail.com

Estonia

Etienne Barrier is originally from France but lives in Estonia. He is involved in a range of high-level projects aimed at informing about CDG within families and healthcare professionals.  Etienne encourages the CDG network; and raises awareness of the challenges that CDG   presents. His daughter, Emily is affected by CDG.

You can see the infographics that Etienne translated to French HERE  
Email: etienne.barrier@gmail.com 

Australia and New Zeland


Merell Liddle is  Morgan's mother. Morgan is an extraordinary horsewoman !

There is not a formal patients association in Australia at the moment. There are around 12 families known so far.
Merell's efforts are centred on CDG Global Alliance Facebook page by providing information, experience and social and emotional support for families all around the world. She also helps CDG patient groups initiatives by advising on and revising resources and so forth.
Read more about Merell Liddle efforts at the Rare Commons interview The amazing story of Morgan an extraordinary horsewoman.

Facebook:https://www.facebook.com/pages/Morgan-Webb-Liddle-Para-Equestrian-and-her-supporters-TeamMORGAN/145308438889087
Visit Morgan's website: http://teammorgan.com.au/
Email: merell@teammorgan.com.au

The Netherlands

Fiona Waddell represents CDG within VKS, the Dutch Umbrella organization for metabolic diseases. When she was eighteen months old, the doctors discovered that she had liver fibrosis, but she always had problems which didn't fit the diagnosis. It was only when she was fifteen years old that she was diagnosed with MPI-CDG. She was the second patient in the world who was diagnosed with this illness.

Fiona was the first CDG patient who has had a liver transplant and due to the liver transplant she can now, lead a healthy life . She is journalist and she wants to use her journalistic skills to create greater worldwide awareness around CDG in order to help other CDG patients and families.

Read more about Fiona at the Rare Commons interview "CDG patient Fiona hopes to create greater CDG awareness by using her journalistic skills"
Fiona's biography is available at http://www.fionawaddell.net/Pagina/Biografie.htm

Email: fmmwaddell@gmail.com

Norway

Ingrid Fevang liaises CDG families based in Norway. Together with the Nordic CDG patient advocacy groups, Ingrid facilitates ease exchange and mutual support amongst families.

Email: frufevang@gmail.com

Bulgaria

Dr. Malina Kirilova Stancheva-Ivanova MD, PhD, is our liaising point in Bulgaria. She is specialist pediatrician, post-graduate student of Pediatric Neurology in Multiprofile Hospital for active treatment in Neurology and Psychiatry “St.Naum”, Clinic for neurological diseases in children, Medical University – Sofia.

She participated in Euroglycanet from 2006-2009. She was principal investigator in Bulgarian Project “Screening for CDG with IEF of serum transferrin” from 2009-2010. In 2013 she defended thesis “Screening for congenital disorders of glycosylation in children with mental retardation”. Her professional interests focus on metabolic and neuromuscular diseases.
Dr Stancheva-Ivanova is increasing CDG awareness and information at national and international level. Dr Stancheva-Ivanova volunteered in the translation of numerous resources for CDG families and professionals.

Some resources are available to be used at http://www.apcdg.com/resources.html
If you wish to contact Dr Stancheva-Ivanova please write to sindromecdg@gmail.com

Brasil

Adriana Maciel is our Brazilian CDG patient Representative. She hopes that many other families will contact her and share information and experiences. Her e-mail address is the following: adriana.t.maciel@gmail.com

O meu nome é Adriana Maciel. Eu sou a representante de pacientes CDG no Brasil. Eu espero que muitas outras famílias entrem em contato conosco e partilhem informações e experiências. O meu e e-mail é o seguinte: adriana.t.maciel@gmail.com

Israel


Martha Haimo is the mother to two CDG adult patients. She is seeking to liaise families and informing about CDG.

Email: martha.haimo@gmail.com

Greece

Tanya Kuzmanova is originally from Bulgaria and is currently based in Germany. But she lived many years in Greece. Her efforts are focused on finding other CDG families within Greece and Bulgaria and exchanging experiences.

Email: takuzmanova@abv.bg

Poland


Dorota Cimięga is based in Polland. Recently, her daughter was diagnosed with a subtype of CDG named PIGN, which is a GPI biogenesis defect.
So far, most CDGs are protein hypoglycosylation disorders, with defects in:
  • N-glycosylation pathway
  • O-glycosylation pathway
  • both the N-and the O-glycosylation pathways
The GPI biogenesis defects involve the intersection of two pathways: lipids and carbohydrates. Due to the rarity of this disorder, Dorota is currently, gathering families affected by PIGN to promote exchange of experiences. She is supporting existing projects amongst our organisation focused on CDG awareness.

Email: dorles.cim@gmail.com
Facebook: https://www.facebook.com/groups/1487776188212507/

Georgia

Tata Tsintsadze, is Natalia Franchuk's mother. They live in Georgia. Tata, is helping liaising families in her country. 

We call you attention to the fact, the patient advocacy groups started to receive the contact from CDG families from Georgia, very recently. We believe many other cases exist, but probably still without a CDG diagnosis.

Tata is a member of the CDG Global Alliance. Please if you are a Georgian CDG family, do not hesitate to contact Tata at Tsintsadze_20@yahoo.com 

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