Mitochondrial Disease and Cardiomyopathy

Mitochondrial Disease and Cardiomyopathy

About Mitochondrial Disease

Mitochondrial Disease is a relatively new disease which was first recognised in adults in the 1960s and in the 1980s in children. Mitochondria are the life force inside us all; they work like a power supply in our cells, providing energy for them to fuel our organs. 1 in 200 babies in the UK are born with genetic changes which can cause Mitochondrial Disease; that's a baby born every 30 minutes that could be diagnosed with this fatal disease and yet we still do not know enough about it. There are very few effective treatments, and no cure for Mitochondrial Disease, meaning that babies born with this disease have very little chance of survival. 

Faulty Mitochondria have been linked to many other common diseases and disorders such as diabetes, Parkinson's, Cancer and Autism. The disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive; making it difficult to diagnose and can include strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, blindness, deafness and susceptibility to infections.

At present there is no cure for mitochondrial disease; treatment can only be provided to relieve its symptoms. There is some fantastic work being carried out to learn more about treatments and therapies and Elliot's Touch is proud to be supporting a project to help identify, treat and hopefully one day cure this awful disease. 

More about mitochondrial disease

About Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle. It is a chronic and sometimes progressive disease in which the heart muscle becomes abnormally enlarged, thickened and stiffened so that the heart can no longer contract or relax normally.

Elliot was diagnosed with Dilated Cardiomyopathy (DCM) which is the most common form of Cardiomyopathy. This occurs when the muscle fibres of one or both pumping chambers are weak and unable to contract normally. 

As the heart pumps less strongly, it enlarges to help deliver more blood with each beat. Despite showing signs of recovery after treatment, Elliot’s condition began to deteriorate to the point where his heart required a mechanical pump, and Donna and Paul were informed that Elliot would need a heart transplant. Sadly he experienced several strokes as a result of his treatment, and passed away following his fifth operation.

Research funded by Elliot's Touch is looking at identifying these types of heart diseases earlier and find more suitable treatments and therapies to help improve outcomes for patients of all ages.

More about cardiomyopathy