Rare disorders

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(external link) 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.

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.

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.

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.(external link)

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.

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.

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.

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.

Apps reviewed by Healthify

You may find it useful to look at some Self-management and healthy living apps and Long-term condition apps.

The support available includes:

• Rare Disorders NZ(external link) 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(external link) 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(external link) provides information on the range of Ministry-funded support services that are available and how you can access them.
• Disability Information Advisory Services(external link) 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(external link) is a New Zealand disability gateway for information, services and support.
• The Federation of Disability Information Centres Disability-Line(external link) 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 NZ(external link) provides information about the resources available for people and their families/whānau living with a rare disorder in Aotearoa NZ. Find a support group from their database.
• Parent to Parent(external link) 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(external link) in New Zealand.
• RareShare(external link) 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(external link).
• The New South Wales Government’s Health Centre for Genetics Education lists genetic support groups in Australia(external link).
• View our list of rare disorders support services.

Prerna's story

"I woke up at around 8am on 4 September 2020 and noticed my entire body was covered in rashes. It wasn’t painful but it felt very itchy. I used an oil and the rashes were gone in a couple of hours. I went to see my GP later that day and they advised that it was probably allergies. The following couple of days were pretty normal. I woke up on 7 September and when I was getting out of bed, I felt very dizzy. I somehow made my way to the bathroom but almost fell as soon as I reached it.

I still had a little energy left in me and got back to my room. Thankfully, my partner decided to work from home that day. I told him that this is happening and he went to get an energy drink and something to eat because we thought it’s probably a weakness.

I remember to this day, while he was gone, I couldn’t move, I thought I’ll call him but I couldn’t even grab my cellphone which was just next to me. He came back home and I had a protein bar, hoping that it would somehow magically make everything better. We waited for a little while, but things were not getting better. We finally called an ambulance and around 4pm I was taken to the hospital." (Continue reading Prerna's story here(external link))

Susannah’s story

I was diagnosed with trigeminal neuralgia (TN) 11 years ago, at the age of 32. At that time my daughter with special needs was 10 and my younger daughter was almost six. I am a solo mum. My GP diagnosed it immediately but she referred me to the maxillofacial surgeon at the hospital for an expert diagnosis.

This was a humiliating experience that resulted in a complaint through the Health and Disability Commissioner. Having been in excruciating pain, I had been unable to keep up my oral health which is very normal when living with TN. The surgeon examined me, asked me if I actually owned a toothbrush, then told me I don’t have TN, just poor dental hygiene. Thankfully, my GP continued to treat it as TN despite this.

I had long periods in remission until 2018 when the pain came back with a vengeance and without any more remissions. My GP got the pain largely under control until the end of the year when it became totally unbearable. My GP consulted with a neurologist from our DHB, but whose services are based two and a half hours away, who suggested a new medication, and then saw me in the New Year. (Continue reading Susannah’s story(external link))

Video: My perfect family: Perrones

Young anime artist Bee Perrone lives with the rare condition Ivemark Syndrome. Understanding this invisible condition is a continuous journey for the whole Perrone family. This video may take a few moments to load.

(Attitude Live, NZ)

Video: My Perfect Family: CDKL5

Learning your new baby has a complex rare condition is life altering. Three mums connect over their shared journey of raising daughters with CDKL5. This video may take a few moments to load.

(Attitude Live, NZ)

Video: My Perfect Family: Melody

Within just one year Melody entirely lost her vision, gave birth to her first child and left her homeland. This video may take a few moments to load.

(Attitude Live, NZ)

To view more videos of the same series, visit Attitude Live: My perfect family(external link) (Attitude Live, NZ)