What Is Mitochondrial Disease || The Charlie Gard Foundation & who we are
What is Mitochondrial Disease?
Mitochondrial disease, or ‘mito’ for short, refers to a group of disorders where dysfunctional mitochondrial are present, resulting in a variety of developmental, muscular and brain abnormalities. Mitochondrial disease is a genetic, chronic condition that is sadly progressive and can affect anyone at any time in their life. Symptoms of the disease vary hugely between individuals, but the most common symptoms are fatigue, neurological problems, visual and/or hearing impairment, heart, liver or kidney dysfunction, muscle weakness and poor growth, to name but a few. There are very few treatments for mitochondrial diseases and there is currently no cure.
What are mitochondria?
Mitochondria are commonly known as the ‘powerhouses of the cell’ as they are the part of the cell responsible for turning the sugars, fats and proteins we eat into energy for the body. Mitochondria produce around 90% of our cellular energy, and are essential for producing the energy that cells need to survive. They contribute in a variety of ways to ensure our well being and are central to how our bodies respond to infections, injury and how our bodies respond to changes that lead to cancer and ageing. They are essential to our survival, so when mitochondria stop working, serious diseases are the result.
There are several different types of mitochondrial disease, including, but not limited to:
Alpers Disease
Kearns Sayre Syndrome (KSS)
Chronic Progressive External Ophthalmoplegia (CPEO)
Leber Hereditary Optic Neuropathy (LHON)
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
Myoclonus epilepsy associated with ragged-red fibres (MERRF)
Leigh Disease or Syndrome
Mitochondrial DNA depletion syndrome
Mitochondrial Myopathy
Mitochondrial Encephalopathy
What can we do?
Research is of the utmost importance to us, and without research we will never be able to find better more effective treatments, and will never be able to find that all elusive cure. The Charlie Gard Foundation invests in the most promising research projects to ensure a brighter mito future for mito sufferers. In the interim, we will support families and individuals affected by mito.
The Charlie Gard Foundation is for the here and now, supporting families to get the very best from life and ensuring they are equipped with everything they need to live a good quality of life and make precious moments and memories that can be cherished forever.
There is much that we can do, but there is much that needs to be done – help us on our mission to fight mitochondrial disease, because mito matters.
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Our vision
is to enhance the quality of life for mitochondrial sufferers through innovative research, family support, and raise much needed awareness for this devastating condition. Mitochondrial related diseases kill more children than childhood cancers, and it’s our vision to change this statistic.
Our aims
are to deliver hope for a brighter future – and one day find that all elusive cure – and ensure we provide mito sufferers with every opportunity to get the very best out of life. We aim to ensure funds raised for the foundation are used efficiently, making the most of every penny donated, and to continue to raise funds through reaching out and engaging with our current supporters and donators.
Our promise to you
is to always value the support and contributions made by our dedicated team of fundraisers and supporters. To be professional and honest with everything we deliver, and provide the very best care and individual service to all those who reach out to us for help. We will endeavor to deliver the most effective support and services our resources and funds will allow, and we promise this all to you because mito matters.
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Get in touch with us to find out more or reach out to our amazing team!
https://www.thecharliegardfoundation.org/
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