AREA OF EXPERTISE AND HEALTHCARE PROVIDER’S CONTRIBUTION TO CARE FOR PATIENTS WITHIN THE METABERN
OSLO UNIVERSITY HOSPITAL
Oslo University Hospital (https://oslo-universitetssykehus.no/oslo-university-hospital) is Scandinavia’s largest hospital and is in charge of specialized services for a number of national and multiregional assignments, including several national centres of competence and treatments. OUH consists of 14 medical divisions and more than 20.000 employees carry out more than 1.2 million patient treatments each year. The hospital promotes extensive research and education.
Oslo University Hospital is a referral hospital for the majority of children and adults with inborn errors of metabolism in Norway and includes the following specialized services:
- The National Unit for Newborn Screening (https://oslo-universitetssykehus.no/avdelinger/barne-og-ungdomsklinikken/nyfodtscreeningen/nyfodtscreening) encompassing 20 congenital metabolic diseases : It includes the follow-up of the majority of newborns detected by newborn screening and has accumulated expertise for PKU through 40 years of screening.
- The National Diagnostic Laboratory (https://oslo-universitetssykehus.no/fag-og-forskning/laboratorietjenester/medisinsk-biokjemi/seksjon-for-medfodte-metabolske-sykdommer) of congenital metabolic diseases has a diagnostic repertoire for several hundred congenital metabolic diseases
- An overview of all the tests being offered by the Oslo University Hospital can be found here.
- Center of competence for congenital metabolic disease includes clinical expertise in the treatment and medical follow-up of children and adults with congenital metabolic diseases at the Division of Paediatric and Adolescent Medicine https://oslo-universitetssykehus.no/fag-og-forskning/nasjonale-og-regionale-tjenester/nasjonal-kompetansetjeneste-for-medfodte-stoffskiftesykdommer
- A National Centre for Rare Disorders and Frambu (http://www.sjeldnediagnoser.no) : Its main purpose is to ensure that patients with rare disorders receive holistic and individually based care and support. The organisations serve patients and their families with different metabolic diseases from all parts of Norway. The overall purpose is to establish better quality of services through empowering patients and strengthening advocacy, making rare disorders more visible in today’s society ensuring easier access to services and strengthening networks and collaborations of professionals. The centers have achieved great expertise in general on “how to cope with a rare disorder” both for the patients and the caretakers involved.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY OSLO UNIVERSITY HOSPITAL
Access to specific treatment and interventions:
- Highly specialized Intensive Care Units for newborns, children and adults: Emergency medical treatment for patient with metabolic crises, advanced ventilator management, hypothermia treatment, dialysis, Ectracorporeal Membrane Oxygenation Treatment (ECMO).
- Paediatric and Adult Metabolic and Neurological Departments/ day -care facilities providing care,treatment and follow-up for most congenital metabolic diseases in general including neurodegenerative diseases, neurotransmitter deficiencies and lysosomal disorders. Involves intrathecal neurotransmitter treatment/DBS adjustments, enzyme replacement therapy approved for Gaucher, Fabry, Pompe, mucopolysaccharidoses (type I, II, IV and VI ). Substrate reduction therapy: EMA approved for Gaucher and Niemann Pick type C. Intrathecal treatment for Niemann Pick type C (experimental). Local injection treatment for spasticity with botulinum toxin.
- Highly specialized dietician service for children and adults with metabolic diseases, including clinics for eating and swallowing disabilities
- Rehabilitation clinics: Patients with a disability (including metabolic disorders) are referred to habilitation service for interdisciplinary follow-up (e.g speech and language therapists, psychologist, neuropsychological testing, neurologist etc), dental services for rare diseases (http://www.tako.no)
- Social care service: Social health care workers in collaboration with child psychiatrist/psychologist and personnel at the Centre for Rare Diseases: Facilitates follow-up and support patients and caretakers with their economical and social rights and provides information to the local community (day-care, school, local health services).
- Advanced Domestic Hospital service (treatment at home) for children with chronic illness including palliative care.
Access to specialized diagnostics and interventions:
- Genetic laboratory and clinical genetic counseling including: Whole exome sequencing service, gene panels including mitochondrial diseases and metabolic diseases (https://oslo-universitetssykehus.no/avdelinger/klinikk-for-laboratoriemedisin/avdeling-for-medisinsk-genetikk/enhet-for-hts-diagnostikk-genpaneler)
- Newborn biochemical screening including 2.tier next generation sequencing in blood spot samples for 20 metabolic diseases with turn-around time 2-5 working days.
- Specialized metabolic diagnostic laboratory for screening of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analysis
- Neurosugery: Cervical spine decompression, lumbar spine decompression and stabilization, ventricular peritoneal shunts, stereotactic surgery, intrathecal baclophen pumps, deep brain stimulation devices (DBS), surgery for epilepsy.
- Specialized orthopedic services available for musculoskeletal treatment, carpal tunnel decompression syndrome, corsetts, orthoses, insoles, braces, splints and movement and gait clinics
- Neuroradiology (CT, MRI/MRS, PET), neurophysiology (EEG, EMG and neurography, VEP, SEP, AEP, BERA), contrast swallow studies.
- Transplantation centres: Bone marrow/stemcell transplantations (MPS-1, X-ALD ), heart, liver, pancreas and kidney transplantation
- Department of child and adult psychiatry, neuropsychological and behavioral testing.
- Specialized medical and surgical departments for children and adults: ophtalmology, ear-nose-throat, cardiology, nephrology, urology, neurology, lung, liver and kidney (including biopsy facilities) and department for Pathology studies.