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Frambu • is one of several nationwide resource centres for rare and less known disabilities in Norway • is responsible for approximately 100 different diagnoses • is a government funded supplement to the regular support apparatus • is a meeting place for families and professionals in the field • has offers for children, adolescents and adults throughout life Living with a rare and less known disability or having a child with a rare disability affects the entire family and the family's network. Frambu is a resource centre of national scope that aims to collect, develop and disseminate knowledge about rare and less known disabilities to persons who are diagnosed with these, to their next of kin and to professionals. The objective is to enable children, adolescents and adults with reduced functional abilities to live a life in harmony with their own circumstances, desires and needs.


What does Frambu do? Frambu offers courses and local guidance for children, adolescents and adults who have one of the rare and less known diagnoses that are listed in the back of this brochure. The offer is also made available to next of kin, professionals and the local support apparatus. You do not need a referral in order to take advantage of Frambu's services. Frambu works actively to stimulate networking across local and regional levels in order to ensure an optimal follow-up of a person with a diagnosis, where he/she lives. We therefore make ourselves available through visits to the local environment in order to provide guidance and offer our competence so that the family can get the best possible help where they live. Frambu also works to survey, collect and systematize knowledge about the diagnoses and the challenges our users face. Much of this information is published in our brochures, pamphlets and web pages. www.frambu.no. We respond to inquiries by telephone and e-mail, and our informational materials are free of charge.


About our seminars Seminars for users and professionals Frambu arranges courses based on diagnoses and diagnosisrelated topics. These are free of charge for persons having the diagnosis and their next of kin. Costs for travel, room and board are also covered. The participants stay at Frambu and are provided with lectures, group sessions, consultations and group activities. Children are provided with educational follow-up during the days and leisure activity follow-up during evenings. Health Camp Every summer Frambu arranges five popular Health Camps for children and adolescents with rare disabilities. The camps accommodates young people unaccompanied by their parents, and it lasts one to two weeks. At the health camp, participants meet others in the same situation, exchange experiences and develop a social network. We also encourage participants to rise above their own limitations and to discover new opportunities. Winter Camp During trying periods of time it can be challenging to have a sibling with a rare disability. Frambu therefore organizes winter camps for siblings so that they can meet one another, exchange experiences and build social networks. Grandparents Course Grandparents are important support and resource persons for families with children having a rare disorder. Frambu therefore offers separate courses for grandparents where they have the opportunity to meet others in the same situation, to exchange experiences, to inspire one another and to gain insight from professionals.


Frambu has expertise on the following rare and less known diagnoses: NB! A number of disabilities may be denoted by more than one name. For an overview of diagnoses and synonyms used for them, see www.frambu.no. Adrenoleucodystrophy Aicardi-Goutiere Syndrome Alexander Disease Alfamanosidosis Alpers Syndrome Alpers-Huttenlocher Syndrome Angelman Syndrome Aspartylglycosaminuria Ataxia Telangiectasia Becker Muscular Dystrophy Beckwith-Wiedemann Syndrome

Charcot-Marie-Tooth Disease Chromosome Anomalies (very rare, entailing disability) Cockayne Syndrome Conditions lacking diagnosis (progressive state) Conditions lacking diagnosis and entailing disability Cornelia de Lange Syndrome Cri-du-Chat Syndrome

DiGeorges Syndrome Duchenne Muscular Dystrophy Dystrophia Myotonica

Fahr's Syndrome Fascioscapulohumeral Muscular Dystrophy Fragile X-Syndrome Friedreich Ataxia

Gangliosidosis Globoid Cell Leukodystrophy Glutaracidemia Glutaracidemia1

Hallevorden-Spatz Disease Hemihypertrophy Syndromes Hereditary Motor and Sensory Neuropathies Hunter Disease Hurler Syndrome Infantile Neuroaxonal Dystrophy Infantile Neuronal Ceroid Lipfuscinosis

Joubert Syndrome Juvenile Neuronal Ceroid Lipofuscinosis

Kallmann Syndrome Kearn-Sayre Syndrome Klinefelter Syndrome Klippel-Trenaunay Syndrome Krabbe Disease


Leber Congenital Amaurosis Leigh Syndrome Lesh-Nyhan Syndrome Leukodystrophies Lysosomal Disorders

Mannosidosis Maroteaux-Lamy Syndrome Menke Disease Metachromatic Leukodystrophy Miller-Dieker Syndrome Mitochondrial Disorders Mitochondrial Myopathies Mitochondrial-encephalopathy lactacidosis and stroke like episodes (MELAS) Moebius Syndrome Morquio Syndrome Mucopolysaccharidosis Syndrome Myopathy, Encephalopathy, Ragged Red Fibres (MERRF)

Neurofibromatosis 1 Neurofibromatosis 2 Neuromuscular Disorders Neuronal Ceroid Lipofuscinosis Neuronal Migration Disorders Niemann-Pick Disease Noonan Syndrome Overweight Syndromes

Pantothenate Kinaseassociated Neurodegeneration (PKAN) Parkes Weber Syndrome

Pearson Marrow-Pancreas Syndrome Pompe Disease Prader-Willi Syndrome Premature Aging Progressive Neurological Illnesses Proteus Syndrome Rett Syndrome

Rubinstein-Taybi Syndrome

Sanfilippo Syndrome Santavuori-Haltia Disease Scheie Syndrome Seitelberger Disease Slye Syndrome Smith-Magenis Syndrome Sotos Syndrome Spielmeyer-Vogt Syndrome (Batten Disease) Spinal Muscular Atrophy Takao Syndrome Tay-Sachs Disease Turner Syndrome

Very rare chromosomal disorders entailing disability Von Hippel-Lindau Syndrome Weaver Syndrome White Matter Diseases Williams Syndrome Wolf-Hirschhorn Syndrome

This inf inform ormation ation is subject to chan change. ge.


At Frambu

- seminars may be attended by the entire family, professionals and support apparatus personnel - you can learn more about the diagnosis, how to cope and live with a rare disability - you meet others in a similar life situation to your own


Do you have questions? More information about Frambu and the services we offer may be found at www.frambu.no. If you have questions or want to visit us, kindly contact us at telephone number 64 85 60 00 or by e-mail to info@frambu.no.

FRAMBU Senter for sjeldne funksjonshemninger Sandbakkveien 18 1404 Siggerud Norway


Brief information about Frambu