What are the challenges and frustrations of living with mitochondrial disease?

Because mitochondrial disease is often ‘invisible’, the biggest challenge the patient faces is convincing the doctor there is something wrong. There is a medical void that currently exists regarding this illness, partly due to the illusive nature of the illness and partly due to it being relatively new.

If a diagnosis is not established it can be difficult for a patient to obtain adequate medical care, healthcare supports and disability services. This can contribute to a progression of symptoms and a risk of inappropriate treatments and management.

Mitochondrial disease affects not only the person with the illness but carers and family as well. So carers and family may even be in need of their own support, support they might have to continuously fight for given the poor education about this disease.

Mitochondrial disease can be unpredictable, day to day and hour to hour. On good days a person with the illness can appear normal so its severity is often doubted. On bad days the person can be extremely ill, making it difficult to return to the original baseline.

Mitochondrial symptoms are very often atypical and bizarre and challenge even the best specialist to ‘think outside of the box’. Standard medical tests may not give a complete picture of what is actually happening.

All of these factors can make it difficult to get through a ‘normal day’. The AMDF is currently building a collection of resources, including articles, lifestyle advice and details on community and allied health services that can assist people with these daily challenges, big and small.