EURORDIS - The Voice of Rare Disease Patients in Europe

Leer sobre cómo vivir con una enfermedad rara y los servicios disponibles

Creer: El Centro de Referencia español de Enfermedades Raras proporciona servicios a los pacientes, familias y profesionales

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Alan asbl (Maladies Rares Luxembourg)
Ågrenska
Anemoni
Asociatia Casa Faenza
Centre for Rare Disorders - Rikshospitalet
Centre National de Ressources Handicaps Rares - Épilepsies sévères - FAHRES
Centre National de Ressources Handicap Rare La Pépinière
Centro de Atividades da Associação Atlântica de Apoio ao Doente de Machado-Josep
CRE Enfermedades Raras (Creer)
CRESAM
Cyprus Institute of Neurology & Genetics
Debra Centre
EB House Austria (Centre of Expertise for Epidermolysis bullosa, EB)
Een Häerz fir kriibskrank Kanner - A Heart for Cancer sick Children
Finnish Federation of Hard of Hearing (FFHOH)
Frambu
Miquel Valls Foundation
National Neuromuscular Centre, Norway
NoRo
Miquel Valls Foundation
Newlife Foundation for Disabled Children
Norwegian Porphyria Centre – NAPOS
PRIOR Plateforme Régionale d'Information et d'Orientation des Maladies Rares
Raríssimas - Casa dos Marcos
Pflegestützpunkte Berlin
TAKO-centre
TRS National Resource Centre for Rare Disorders – Sunnaas Rehabilitation Hospital
V.A.D.L.R. Vivre avec une Anomalie du Développement en Languedoc Roussillon

ALAN asbl (Maladies Rares Luxembourg)

Activities: Resource Center; Therapeutical recreation; Children and family activities; Well-being courses
Dates: All year long
Target Population: Patients, families; Rare diseases
Age-Groups: All ages
Countries of Origin: Luxembourg, Belgium, France, Germany
Languages Spoken: Luxemburgish, French, German, English, Portuguese
Country: Luxembourg
Contact Person: Gaby Turmes
Webpage: http://www.alan.lu/alan/
Email: gaby.turmes@alan.lu
Telephone: (00352) 266112

Ågrenska

Activities: Respite Care Services, Family Stays, Traning Courses
Dates: All year long
Target Population: Patients, Families, Professionals; Rare Diseases, Disabilities
Age-Groups: Children and Adults
Countries of Origin: Sweden
Languages Spoken: Swedish, English
Country: Sweden
Contact Person: Gunilla Jaeger
Anders Olauson
Webpage: http://www.agrenska.se/
Email: agrenska@agrenska.se
Telephone: (0046)317509101

ANEMONI - Day care center of spastic and handicapped children

Activities: Rehabilitation,Education,Social Inclusion , School inclusion; speech, occupational and physical therapy
Dates: All year long
Target Population: Patients; Cerebral Palsy and other disabilities
Age-Groups: 2 to 14 years old
Countries of Origin: Cyprus
Languages Spoken: Greek , English, French, Bulgarian
Country: Cyprus
Contact Person: Polyvios Mylonas
Webpage: www.cprehabcenter.com
Email: polyvios02@yahoo.com - kentro.spastikon@cytanet.com.cy
Telephone: (00353) 12057200

Asociatia Casa Faenza

Activities: Community center for children with autism providing therapies, training sessions and social support
Dates: All year long
Target Population: Patients
Age-Groups: 0 to 16 years old
Countries of Origin: Romania
Languages Spoken: Romanian
Country: Romania
Contact Person: Piscuc Cristina Constantinela (Director)
Webpage: http://www.autism.ro/faenza.html
Email: faenza@mail.regionalnet.org
Telephone: (0040) 0256487002

Centre for Rare Disorders - Rikshospitalet

Activities: Interdisciplinary and nationwide competence centre offering information,
counselling and seminars
Dates: All year long
Target Population: Patients; families; professionals; rare diseases: Congenital anomalies; Congenital liver diseases; Inborn errors of metabolism; Congenital thrombocytopenia; Congenital haemophilia; Primary immunodeficiencies; Congenital skin diseases; Hereditary eye and central nervous system disorders
Age-Groups: All ages
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Olve Moldestad
Webpage: www.sjeldnediagnoser.no
Email: sjeldnediagnoser@ous-hf.no
Telephone: (0047) 23 07 53 40

Centre National de Ressources Handicaps Rares - Épilepsies sévères - FAHRES

Activities:
Information, training, applied research, interventions and advice on care strategies and personal adapated projects, documentation centre and capitalisation of resources
Dates: All year long
Target Population: Patients; Carers; Professionals and public authorities; Rare handicap with epilepsy
Age-Groups: Children; adults
Countries of Origin: France
Languages Spoken: French, English, Spanish
Country: France
Contact Person: Aymeric AUDIAU, Director
Webpage: www.fahres.fr
Email: contact@fahres.fr
Telephone: (0033) 969368646

Centre National de Ressources Handicap Rare La Pépinière

Activities: Gathering of experts and of information; dissemination of information; evaluation of complex cases; counselling and support to professionals working with patients at local level
Dates: All year long
Target Population: Patients; Professionals; Visual and hearing impairment associated to other symptoms, generating a rare disability
Age-Groups: All ages
Countries of Origin: France
Languages Spoken: French
Country: France
Contact Person:
Webpage: www.cnrhrlapepiniere.fr
Email: kdhaussy@anpea.gapas.org
Telephone: (0033) 0320971731

Centro de Atividades da Associação Atlântica de Apoio ao Doente de Machado-Josep

Activities: Leisure and recreation activities, including outdoor activities; motricity and hydrogymnastics exercises; information sessions; expositions of handicraft work done by patients
Dates: All year long
Target Population: Patients; Machado-Joseph disease
Age-Groups: Adults
Countries of Origin: Portugal
Languages Spoken: Portuguese
Country: Portugal
Contact Person: Ana Pedro, Social Worker
Webpage: http://www.aaadmj.com/
Email: info@aaadmj.com
Telephone: (00351) 296 281 627

CRE Enfermedades Raras (Creer)

Activities: Respite Care Services; Personal assistance in in-patient and out-patient regime; support and training to families and carers; specialised training and support services for organisations and professionals; information and documentation; studies and research
Dates: All year long
Target Population: Patients, Families, Professionals, Rare Diseases
Age-Groups: All
Countries of Origin: Spain
Languages Spoken: Spanish
Country: Spain
Contact Person: Marta Fonfría (Social Educator)
Webpage: http://www.creenfermedadesraras.es/creer_01/index.htm
Email: info@creenfermedadesraras.es - creenfermedadesraras@imserso.es
Telephone: (0034) 947253950

CRESAM - Centre National de Ressources Handicaps Rares Surdicécité

Activities: Evaluation of complex cases, elaboration of strategies of care, training, counselling and support to professionals working with patients at local level
Dates: All year long
Target Population: Patients; Families; Professionals; Hearing and visual impairment
Age-Groups: All ages
Countries of Origin: France
Languages Spoken: French, English
Country: France
Contact Person: Serge Bernard, Director
Mylène Bachelier, Assistant to the Director
Webpage: www.cresam.org
Email: centre.res@cresam.org
Telephone: (0033) 549438050

Cyprus Institute of Neurology & Genetics

Activities: Social support to patients and families; co-operation with the social services (local and national); home visits to patients for counseling about accessibility at home; volunteers program for social support in house
Dates: All year long
Target Population: Patients; Families; Carers; neurologic and genetic conditions
Age-Groups: Children, Teenagers, Adults
Countries of Origin: Cyprus or European citizens living in Cyprus
Languages Spoken: Greek, English
Country: Cyprus
Contact Person: Marina Pavlou – Social Worker
Webpage: www.cing.ac.cy
Email: mpavlou@cing.ac.cy
Telephone: (00357) 22392732

Debra Centre

Activities: Information & Education, Support in Daily Life, Lobbying and Public Awareness, Organisation of Treatments and Check-ups, Psychological Support, Provision of Information on Social Services, Accommodation for Short Stay, Support in Transport
Dates: All year long
Target Population: Patients, Families, Professionals, Epidermolysis Bullosa
Age-Groups: All
Countries of Origin: Croatia
Languages Spoken: Croatian, English, Serbian, Slovenian
Country: Croatia
Contact Person: Vlasta Zmazek
Webpage: www.debra-croatia.com
Email: info@debra-croatia.com
Telephone: (00385) 14555200

EB House Austria (Centre of Expertise for Epidermolysis bullosa, EB)

Activities: Outpatient Unit: medical diagnosis, treatment and care for patients with EB; family members’ training and social counselling; cooperation with nearly all other departments of the General Hospital Salzburg. Research Unit: clinical and basic research; gene therapy, immunology, cancer, wound healing, therapeutic targets; clinical trials. Academy Unit: networking, training and education for professionals, public relations
Dates: All year long
Target Population: Patients; Families; Professionals; Epidermolysis bullosa
Age-Groups: All ages
Countries of Origin: Austria; all countries
Languages Spoken: German, English, French, Spanish
Country: Austria
Contact Person: Gabriela Pohla-Gubo, PhD (Coordinator)
Webpages: http://www.eb-haus.org/ - http://www.eb-haus.org/en/home.html
Email: info@eb-haus.org
Telephone: (0043) 662 44 82 31 10

Een Häerz fir kriibskrank Kanner - A Heart for Cancer sick Children

Activities: Psychological Support; palliative care; information, guidance, social follow-up; support in daily life; lobbying and public awareness; support in transport for treatments/check-ups; horse and sub-water acoustical therapies, leisure programs
Dates: All year long
Target Population: Patients, families;
Age-Groups: 0 to 22 years old
Countries of Origin: Luxembourg, Belgium, France, Germany
Languages Spoken: Luxembourgish, French, German, English, Portugese
Country: Grand-Duchy of Luxembourg
Contact Person: Mme Marie-Marthe Bruck-Clees
Webpage: www.kriibskrankkanner.lu
Email: secretariat@kriibskrankkanner.lu
Telephone: (00352) 51 46 29 1

Finnish Federation of Hard of Hearing (FFHOH)

Activities: Courses, therapeutic recreational outings and joint activities: clubs, excursions, cultural events, and other gatherings; adult vacations
Dates: All year long
Target Population: Patients, families; hearing impairment
Age-Groups: Children, Adults
Countries of Origin: Finland
Languages Spoken: Patients/Families
Country: Finland
Contact Person: Satu Laitinen (Course Director)
Webpage: http://www.kuuloliitto.fi/fin/in_english/
Email: satu.laitinen@kuuloliitto.fi
Telephone: (00358) (09) 5803 830

Frambu

Activities: Residential Courses, Summer Camps, Training Courses, Communication and Documentation Materials
Dates: All year long
Target Population: Patients, Families, Professionals; Rare Diseases
Age-Groups: Children and Adults
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Lisen Julie Mohr
Webpage: http://www.frambu.no/
Email: info@frambu.no
Telephone: (0047) 64856000

Miquel Valls Foundation

Activities: Information, follow-up, domiciliary support and advice services; occupational therapy and psychology; bank of assistive technology products; multidisciplinary care at ALS Unit of the University Hospital of Bellvitge; Promotion of ALS research
Dates: All year long
Target Population: Patients and families; Amyotrophic lateral sclerosis
Age-Groups: All
Countries of Origin: Spain
Languages Spoken: Catalan, Spanish, English
Country: Spain
Contact Person: Esther Sellés
Webpage: http://fundaciomiquelvalls.org/es/
Email: ela@fundaciomiquelvalls.org
Telephone: (0034) 937665969

National Neuromuscular Centre, Norway (NMK)

Activities: Interdisciplinary specialised diagnostic activities; specialised physiotherapy, advisory and guidance on the diagnostic process and follow up of patients/families; courses for patients/families and local health care personnel; national/international interdisciplinary conferences
Dates: All year long
Target Population: Patients; Families; Health care professionals; Carers of all kind; Inborn neuromuscular disorders
Age-Groups: All ages
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Irene Lund - Irene.Lund@unn.no
Webpage: www.unn.no/nmk
Email: nmk@unn.no
Telephone: (0047) 77627217

Newlife Foundation for Disabled Children

Activities: Nurse helpine (free); paediatric disability equipment grants and loans; funding medical research; campaigning and awareness
Dates: All year long (excluding UK bank holidays and between Christmas and New Year)
Target Population: Patients, Families, Professionals; disabilities and terminal illnesses
Age-Groups: Children and Adults
Countries of Origin: United Kingdom; Nurse helpline and research services accept requests from other European countries
Languages Spoken: English
Country: United Kingdom
Contact Person: Mr. Stephen Morgan, Head of Operations
Webpage: www.newlifecharity.co.uk
Email: info@newlifecharity.co.uk - nurses@newlifecharity.co.uk
Telephone: (0044) (0)1543462777

NoRo

Activities: Training Courses, Day Care Centre (Therapies and Medical Evaluation), Empowerment Courses, Help Line
Dates: All year long
Target Population: Patients, Families, Professionals; Rare Diseases, Autism Spectrum
Age-Groups: Children and Adults
Countries of Origin: Romania, Hungary
Languages Spoken: Romanian, English, Hungarian
Country: Romania
Contact Person: Dorica Dan
Webpage: http://www.apwromania.ro/centrudezi
Email: noro@apwromania.ro
Telephone: (0040) 0260610033

Norwegian Porphyria Centre – NAPOS

Activities: Diagnostics, treatment and follow-up of patients; advisory services/counselling, information, courses for patients/families and health care professionals; research and development; international cooperation; patient registries; online drug database; external quality assessment
Dates: All year long
Target Population: Patients; families; professionals; Porphyria diseases: Porphyria cutanea tarda (PCT); Acute intermittent porphyria (AIP); Erythropoietic protoporphyria (EPP); Variegate porphyria (VP); Hereditary coproporphyria (HCP); Congenital erythropoietic porphyria (CEP); Hepatoerythropoietic porphyria (HEP)
Age-Groups: All ages
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Sverre Sandberg
Webpage: www.napos.no
Email: porfyri@helse-bergen.no
Telephone: (0047) 55 97 31 70

PRIOR Plateforme Régionale d'Information et d'Orientation des Maladies Rares

Activities: Information, Guidance, Social Follow-up and Training
Dates: All year long
Target Population: Patients, Families, Professionals, Rare Diseases
Age-Groups: All
Countries of Origin: France
Languages Spoken: French
Country: France
Contact Person: Catherine Pateron in Angers; Blandine Legeay in Nantes
Webpage: http://www.chu-angers.fr/?IDINFO=200_14395_7792
Email: prior@chu-angers.fr - prior@chu-nantes.fr
Telephone: (0)820260010 (French blue line)

Raríssimas - Casa dos Marcos

Activities: Respite Care, Day Centre (Therapies and Medical Evaluation)
Dates: All year long
Target Population: Rare Diseases
Age-Groups: Children, Adults
Countries of Origin: Portugal
Languages Spoken: Portuguese
Country: Portugal
Contact Person:
Webpage: http://www.rarissimas.pt/casa-dos-marcos/
Email: info@rarissimas.pt
Telephone: (00351) 217786100

Pflegestützpunkte Berlin

Activities: Network of 24 resource centres with telephone, live and domiciliary information and support services
Dates: All year long
Target Population: Patients and families; Disabilities
Age-Groups: All ages
Countries of Origin: Germany
Languages Spoken: German
Country: Germany
Webpage: http://www.pflegestuetzpunkteberlin.de/
Telephone: 0800 59 500 59 (free number)

TAKO-centre (Norwegian National Resource Centre for Oral Health in rare Diagnosis)

Activities: Consultations; Interdisciplinary approach; Research, Teaching and advisory services
Dates: All year long
Target Population: Patients; Families; Professionals; rare diseases affecting oral health
Age-Groups: All ages
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Hilde Nordgarden
Webpage: www.tako.no
Email: tako@tako.no
Telephone: (0047) 23225936

TRS National Resource Centre for Rare Disorders – Sunnaas Rehabilitation Hospital

Activities: Guidance and counseling on medical, social, psychological and educational issues; guidance on the diagnostic process and follow up of patients/families; courses for patients/families and health care professionals; information materials; research.
Dates: All year long
Target Population: Patients; Families; Professionals; Rare Diseases, congenital disorders: Atrhogryposis multiplex congenita (AMC); Limb deficiency; Short stature (Dwarfism); Ehlers-Danlos syndrome (EDS); Marfan syndrome; Osteogenesis imerfecta; Spina Bifida (Myelomeningocele,MMC); Multiple hereditary exostoses (MHE)
Age-Groups: All ages
Countries of Origin: Norway
Languages Spoken: Norwegian, English
Country: Norway
Contact Person: Kjersti Vardeberg
Webpage: www.sunnaas.no/trs
Email: kjersti.vardeberg@sunnaas.no
Telephone: (0047) 66969000

V.A.D.L.R. Vivre avec une Anomalie du Développement en Languedoc Roussillon

Activities: Information, Follow-up, Training, Practical Guides on Social, Employment and School integration
Dates: All year long
Target Population: Patients, Families, Professionals, Development Disorders
Age-Groups: All
Countries of Origin: France
Languages Spoken: French
Country: France
Contact Person:
Webpage: http://www.anomalies-developpement-lr.net/
Email: maladiesrares.lr@gmail.com
Telephone: (0033) 467570562