First steps after diagnosis

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Mitochondrial disease (mito) is complicated, and when you or your child receive a diagnosis of mito you may experience many different emotions. It's completely understandable if you are feeling overwhelmed or uncertain. During this time, it's important to be kind to yourself and seek the support you need to navigate this journey.

Click on the links below for a brief overview of mito and where to go to find support.

Easy Read: Things to do when you find out you have mito

First steps after a diagnosis

Step 1: Find out about mito

What is mito?

Mitochondria are the powerhouses of the cell, providing the body with over 90% of the energy it needs to sustain life.

Mitochondrial disease ('mito' for short) is caused by a change in one or more of the genes that make up the mitochondria. These changes can be inherited from the mother or the father or happen by chance at conception.

Mito is an umbrella term, like 'cancer'. There are many different types of mito, as there are many types of cancer. Mito are a group of complex genetic disorders that occur when mitochondria fail to produce enough energy for the body to function properly.

The onset of mito symptoms can occur at any stage of life, from birth through to adulthood. Some forms of mito affect a single organ (e.g. the eye in Leber hereditary optic neuropathy), whereas many involve multiple organ systems.

How common is mito?

Symptoms of mito

Symptoms of mito vary depending on the type of mito you have and which gene is causing mito. Some types of mito mainly affect one organ, like the eye in Leber hereditary optic neuropathy (LHON), while others affect multiple organs. Common symptoms linked to mito include fatigue, seizures, diabetes, hearing loss, and ptosis (drooping of the eyelids).

Learn more about the causes and symptoms of mito.

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Listen to information on our Audio Learning Channel.

Step 2: Learn how to manage mito

Find a mito aware health professional

Recommended tests after diagnosis

Important information about medicines

Consider registering with the Mito Registry

Prefer to listen?

Listen to information on our Audio Learning Channel.

Step 3: Access support

Receiving a diagnosis of mito may leave you experiencing a rollercoaster of emotions. We've heard from the mito community that having information and support at your fingertips can make a big difference.

Connect with other individuals impacted by mito

What to tell family and friends

If you want to talk to someone, call our helpline at 1300 977 180. For more information and additional support, please follow the links provided below.

Adults with mito

Two people sitting with dogs on a log surrounded by trees

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Children with mito

Parents kissing their child who is held up between them

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When I was diagnosed, I didn't think I needed support. My family started asking questions and using Google to find out information, and came across Mito Foundation. I wish I had reached out earlier, as when I did, the team talked me through how they can help and provided me with the information I really needed. And, really importantly connected me to people having a similar experience to me. All it takes is a phone call to say, hey, can you help me?

Mito community member, 2023

Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Author(s): Mito Foundation
Reviewer(s): Professor John Christodoulou AM MB BS PhD FRACP FRCPA FHGSA
Version: 1
Date published: 28 November 2023

First steps after diagnosis

MitoHub

First steps after a diagnosis

Step 1: Find out about mito

Prefer to listen?

Step 2: Learn how to manage mito

Prefer to listen?

Step 3: Access support

Adults with mito

Children with mito

1. On a scale from 0 to 5 (where 0 is very poor knowledge, and 5 is all the knowledge you feel you need), how would you rate your knowledge?

2. On a scale from 0 to 5 (where 0 is very poor confidence and 5 is all the confidence you feel you need), how would you rate your confidence?

3. On a scale from 0 to 5 (where 0 is very poor wellbeing, and 5 is what you feel your wellbeing should be), how would you rate your wellbeing?

4. On a scale from 0 to 5 (where 0 is very poor access to the services you need, and 5 is you have access to the services you feel you need), how would you rate your access to services:

First steps after diagnosis

MitoHub

First steps after a diagnosis

Step 1: Find out about mito

Prefer to listen?

Step 2: Learn how to manage mito

Prefer to listen?

Step 3: Access support

Adults with mito

Children with mito

Send us feedback about this resource

1. On a scale from 0 to 5 (where 0 is very poor knowledge, and 5 is all the knowledge you feel you need), how would you rate your knowledge?

2. On a scale from 0 to 5 (where 0 is very poor confidence and 5 is all the confidence you feel you need), how would you rate your confidence?

3. On a scale from 0 to 5 (where 0 is very poor wellbeing, and 5 is what you feel your wellbeing should be), how would you rate your wellbeing?

4. On a scale from 0 to 5 (where 0 is very poor access to the services you need, and 5 is you have access to the services you feel you need), how would you rate your access to services: