Rare diseases
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Unit 607
November 2023
The purpose of this activity is to provide you with insightful information about the investigation and diagnosis of rare diseases, and the management and support of people with a rare disease and their families.
A disease or condition is considered rare if it affects fewer than one in 2000 people. Many rare conditions affect multiple organ systems and are chronic, serious and progressive. Around 80% are genetic in origin, with the remainder including autoimmune conditions, infections and cancers.
Although these conditions are individually rare, they are collectively common with approximately 8% of Australians having a rare disease. There are more than 7000 known rare diseases, with new ones being discovered regularly.
People living with a rare disease, and their families, often face common challenges, including diagnostic delay, poor health outcomes, limited care and support options, lack of research, psychosocial impacts and significant financial costs. So, while no health professional can be an expert in all rare diseases, there are common approaches to diagnosis and management that can assist in the care of people living with a rare disease and their families.
At the end of this activity, participants will be able to:
Below is a list of the case studies found in this month's edition of check. To see how these case studies unfold and gain valuable insights into this months topic, log into gplearning to complete the course.
Margaret, aged 30 years, presents to you for a pre-conception health check. She reports she is generally fit and healthy but wants to know if there is anything else she should do or be aware of before she starts trying to conceive her first child with her partner Julian.
Cassandra has brought her daughter Layla, aged 6 years, to your clinic due to concerns with her nasogastric tube. She was recently discharged from the local hospital where she had one week’s admission under a gastroenterologist. This is your first time meeting Layla and Cassandra, as the family has recently moved to your area from regional Australia, having worked on several remote properties.
Lucas, a boy aged 16 years, has recently moved to the area and is seeking a regular general practitioner. He is quiet and fidgets with a toy during his appointment with you. His mother, Jackie, accompanies him and explains that he has an intellectual disability and has recently been diagnosed with a rare disease, Raynaud-Claes syndrome. Jackie would also like to discuss options for support for her and the rest of her family to help with the impacts of this recent diagnosis.
Raafe, aged three years, is Faraz and Leisha’s first child. They have just moved to your area from another city in Australia. Leisha brings Raafe to you to register as a new patient and for an influenza vaccination. You notice Raafe is not yet talking and appears rather unsteady on his feet. He has somewhat distinctive facial features, with low-set ears and a scar on his chest. Leisha asks if you could organise a referral for Raafe to a cardiologist at the local hospital.
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Each unit of check comprises approximately five clinical cases, and the choice of cases will cover the broad spectrum of the unit’s topic. Each unit will be led by a GP with an interest and capability in the topic, and they will scope the five different cases for that unit in collaboration with the check team.