Rare disorders

A rare disorder is a health condition that affects very few people. However, about 300,000 New Zealanders have a rare disorder because there are many different types.

Key points about rare disorders

  1. While the exact cause of many rare disorders is not known, most rare disorders are genetic and can affect other family/whānau members.
  2. Each disorder has a different set of signs and symptoms.
  3. It is often hard to find an underlying diagnosis for a rare disorder. You may spend years (average of 4 years with diagnosis problems) consulting with different specialists and having medical tests.
  4. Unless the disorder has been well researched, eg, Huntingtons or cystic fibrosis, there won't be set standards of care documents and clinical pathways. This means there may be a lack of understanding about how the disorder will progress.
  5. Many rare disorders are life-long and debilitating. About half of them affect children and 30% of those are terminal diseases.
  6. People who have a rare disorder can find support from Rare Disorders NZ, genetic services, disability services, and disability and rare disorder support groups.

What is a rare disorder?

In Aotearoa New Zealand there is no official definition for how few people it can affect to count as a rare disorder. Advocacy organisation Rare Disorders NZ follows the European Union policy that defines rare disorders as conditions that affect fewer than 1 in 2,000 people.

While these numbers seem small, there are more than 7,000 known rare disorders affecting up to 400 million people worldwide. This means that while individual diseases may be rare, the total number of people with a rare disease is large. In Aotearoa New Zealand, 6% of people (about 300,000) have a rare disorder. About half of the people affected by rare disorders are children.


What are the causes of a rare disorder?

While researchers are learning more each year, the exact cause of many rare diseases is still unknown. The majority are thought to be genetic, directly caused by mutations (changes) in one of your in genes or chromosomes. Genes contain recipes for your body to make proteins. If an important gene is altered it can lead to disease, and the causes can vary.

In some cases, genetic changes that cause disease are passed on from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed.

Genetic disorders can be present throughout your life, even if symptoms do not appear right away.

Environmental factors like the food you eat, whether you smoke or your exposure to chemicals can also play a role in rare disorders. They may directly cause your rare disorder, or they may interact with genetic factors to cause your disorder or make your disorder’s symptoms more severe.

What are the symptoms of a rare disorder?

Rare disorders can affect any part of your body and can cause a wide range of signs and symptoms. Often symptoms will be different for each person. Some rare disorders have clear clinical pathways, meaning that health professionals know how best to manage the disorder and have a better understanding of how the disease will develop. Often your experiences of living with a rare disorder are different from someone else’s experience of it.

How is a rare disorder diagnosed?

Start by visiting your GP. Your GP will ask you about your symptoms and health history and examine you. They may ask questions about the health of other people in your immediate family/whānau. Your GP can also order medical tests to help find out what is causing your symptoms. This may include blood tests, genetic ‘predictive’ testing, x-rays, MRIs, heart tests or other procedures.

Your doctor may also refer you to one or more specialists to help diagnose your disorder and manage your ongoing care.

Trying to find an underlying diagnosis for a rare disorder can be a very long and frustrating experience. You may spend years consulting with different specialists and having medical tests. Sometimes, even after the tests and specialist visits, you may be given the wrong diagnosis or no diagnosis at all.

You need to know you are not alone and that there are support groups for undiagnosed conditions which can be found via Rare Disorders NZ.

If there is no diagnosis it can be very difficult for you and your family/whānau. Unfortunately, because there are so few cases of specific rare disorders, there often isn't a doctor in Aotearoa New Zealand who has seen many (or any) similar cases. There may also be very few expert centres available for diagnosis, management and research related to your rare disorder. For this reason, it may take a doctor a long time to match your symptoms to a possible diagnosis.

GPs and specialist doctors also often don’t have the time, resources or information to properly diagnose and manage people with rare disorders, compared to more common ones. Education and awareness within health policy and frameworks can improve this. Rare Disorders NZ are calling for better recognition and awareness of the challenges faced by people living with a rare disease, plus more commitment to meeting these challenges by developing a New Zealand National Rare Disorder Framework.

How is a rare disorder treated?

There may not be a medicine available to specifically treat your rare disorder as only 5% have a treatment available. Your GP and specialists will develop a treatment plan to address and manage your symptoms. It may include medicines and supportive therapies such as speech therapy, physiotherapy and occupational therapy.

What is the outlook for someone with a rare disorder?

The outlook depends on the kind of disorder you have, how seriously it is affecting you and how well your disorder can be managed with medicines and other treatments. Many rare disorders are life-long and debilitating and some may lead to death at a young age. This affects you and your wider family and whānau.

Having a rare disorder may affect your emotional and mental wellbeing. Depression, stress and anxiety are common among people with rare disorders. This is because it can be difficult to cope with some of the experiences associated with a rare disorder, such as:

    • your physical symptoms
    • your disability status
    • being misdiagnosed, undiagnosed, or in the long process of trying to be diagnosed
    • challenges in accessing healthcare treatments or services.

You may also need to take time away from work or school to manage your disorder, or may find your workplace or school isn't able to meet your needs appropriately. This can affect your and your family/whānau’s financial wellbeing.

How can I care for myself with a rare disorder?

Living with a rare disorder can be challenging. You may feel overwhelmed and confused, or find that you are struggling to manage your symptoms, medicines and treatments day to day.

Self-care, also known as self-management, can empower you to live well while having a rare disorder. Our self-care resources can help you learn how to manage your disorder, partner with your healthcare team to share in decisions about your treatment and take charge of the things you can change.

What support is available to people living with a rare disorder?

The support available includes:

  • Rare Disorders NZ has links to information and support available through over 115 rare disorder support groups
  • genetic health services and genetic counselling
  • disability services
  • support groups and networks.

Genetic health services and counselling

Your doctor or specialist may refer you to Genetic Health Service NZ to diagnose a condition and confirm or explain a diagnosis. They can also discuss a family history of a genetic condition or cancer and discuss tests for a genetic condition. If you are diagnosed before having a baby, they can discuss risks and pregnancy options available to you. Services are publicly funded if you are a New Zealand resident.

Disability services

Many rare disorders involve a range of disabilities. There are many funded and non-funded services available to support people living with disabilities and their families/whānau.

  • The Ministry of Health's Disability Services provides information on the range of Ministry-funded support services that are available and how you can access them.
  • Disability Information Advisory Services provide independent information and advice to people with disabilities, their families, whānau, aiga, caregivers and providers and to the general public. The service can tell you about Ministry-funded and non-Ministry funded disability support services, and how you can find them. This free service is available to everyone.
  • Firstport is a New Zealand disability gateway for information, services and support.
  • The Federation of Disability Information Centres Disability-Line provides disability information and advice. Freephone 0800 693 342.

Support groups and networks

Support groups and networks can help you connect with other people who understand what it is like to live with your rare disorder. You may also be able to learn more about treatment options and the latest research related to your rare disorder.

  • Rare Disorders New Zealand provides information about the resources available for people and their families/whānau living with a rare disorder in Aotearoa New Zealand. Find a support group from their database.
  • Parent to Parent provides information and emotional support to families who have a child with a disability, special need or health impairment.
  • Disability Connect has a list of disability support groups in New Zealand.
  • RareShare is an online social network for patients, families, healthcare professionals and others affected by rare disorders. RareShare also hosts educational podcasts on topics and disorders of interest.
  • NORD (USA) has a list of rare disorder support groups.
  • The New South Wales Government’s Health Centre for Genetics Education lists genetic support groups in Australia.
  • View our list of rare disorders support services.

Learn more

The following links provide further information about rare disorders. Be aware that websites from other countries may have information that differs from New Zealand recommendations.

About rare disorders

What is a rare disorder? Rare Disorders NZ
FAQs about rare diseases NIH Genetic and Rare Diseases Information Center, US
Information for patients Genetic Health Service New Zealand, NZ
Rare disorders Ministry of Health, NZ
What is a rare disease? Rare Disease UK

Rare disorder databases

Orphanet is a portal of information on rare diseases and the medicines developed to treat them. Because they are so rare that it would not be profitable to produce them without government funding, they are known as ‘orphan drugs’. Orphanet provides information on any disease that occurs for fewer than 1 person in 2,000 in the population. This includes genetic, autoimmune and infectious diseases as well as rare cancers and diseases with no accurate diagnosis.
NORD is an American organisation that helps with rare diseases and assists the organisations that serve them. The NORD site provides general information, information on developmental drugs and a database of medical reports on more than 1,200 rare diseases. The reports include links to support organisations.
Global Genes’ RARE List provides information about a wide range of rare diseases, including links to support organisations, related news, events and clinical trials.
The Genetic and Rare Diseases Information Center (US) provides easy-to-understand information about rare or genetic disorders in English and Spanish.

Information on the call for a national framework

Call for national framework for rare disorders in New Zealand Rare Disorders NZ

References

  1. About rare diseases Orphanet, France
  2. Becoming an empowered patient – a toolkit for the undiagnosed RARE Toolkits, Global Genes, US, 2015
  3. Rare diseases FAQ NIH National Human Genome Research Institute, US
  4. Illuminating the rare reality Rare Disease UK, 2019
  5. Impact of living with a rare disorder in NZ Rare Disorders NZ, 2019
  6. Rare facts Global Genes, US
  7. What causes rare diseases? Rare Diseases Clinical Research Network, US
  8. What is a rare disease? EURODIS, France
Credits: Health Navigator Editorial Team. Reviewed By: Lisa Foster, Chief Executive, Rare Disorders NZ Last reviewed: 25 Oct 2021