Table 2 Key HSCP roles in holistic care for people with Rare Diseases
From: Designing rare disease care pathways in the Republic of Ireland: a co-operative model
Disease name | Nurse Specialist | Physio therapy | Occupational Therapy | Speech and Language Therapy | Psychology | Medical Social Worker | Genetic Counselling | Database Manager | Dietetics |
|---|---|---|---|---|---|---|---|---|---|
Turner syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Primary Adrenal Insufficiency | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
Glomerular disease | ✓ | ✓ | ✓ | ✓ | ✓ | ||||
Osteogenesis Imperfecta | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |
Hypophosphataemic Rickets | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
Tuberous Sclerosis | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |
Sickle Cell Anaemia | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Von Willebrand disease | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Duchenne Muscular Dystrophy | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Amyotrophic Lateral Sclerosis | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Retinitis Pigmentosa | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Usher Syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |
Neurofibromatosis 1 | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
Long QT syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ||||
22q11.2 deletion syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Angelman syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Sarcoidosis | ✓ | ✓ | ✓ | ✓ | ✓ | ||||
Wilson Disease | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Ehlers Danlos—Vascular type | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
Ehlers-Danlos Syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
Vasculitis | ✓ | ✓ | ✓ | ✓ | ✓ | ||||
Juvenile Idiopathic Arthritis | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Hereditary Spastic Paraplegia | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Early-onset generalized limb-onset dystonia | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Epidermolysis Bullosa | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Phenylketonuria | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Fabry Disease | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | |||
Hereditary Haemorrhagic Telangiectasia | ✓ | ✓ | ✓ | ✓ | ✓ | ||||
Marfan syndrome | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |