About The Foundation
The Katie Rose Foundation was founded by Katie’s Mummy and Daddy, Fiona and Sean Rodgers in June 2015. Katie’s parents believe that although Katie is no longer here in the physical sense, she is the one behind it all. Katie left a lasting impression on everyone she met. She changed lives in her short little life and we hope that she can continue to do so and make a difference in the world of Mitochondrial Disease.
The Katie Rose Foundation will strive to find a cure. The Katie Rose Foundation is dedicated and will continue the fight to find a cure whilst also providing support for those families who will, unfortunately, not find one soon enough.
What is Mitochondrial Disease?
The term “Mitochondrial disease” refers to a group of disorders. Each of these conditions involves a problem with mitochondria.
Mitochondria are tiny structures inside almost every cell in your body. Their primary and most important job is to use the food and oxygen that enter the cells to make energy. Almost all of the energy your body needs for daily life and growth comes from mitochondria.
The “mighty mitochondrion” are essentially the powerhouse of the cell. Without this powerhouse working effectively and efficiently, things start to go wrong. It would be like trying to run an entire household on a single battery. It is almost as if there is a power shortage or a “blackout” within the body.
What Are Mitochondria
In every cell in the body, Mitochondria are responsible for producing energy (called ATP) that the cell needs to function. Cells make up tissues and organs in our bodies, for example the heart, liver and kidneys etc.
They are sometimes called the ‘Mighty Mitochondria’ as they are the powerhouse of almost every cell in our bodies, supplying the energy every cell requires to function. Healthy Mitochondria are absolutely vital to sustain life. When things go wrong with the Mitochondria, there is a knock on effect for every single organ in the body.
If the cells in the body do not have an adequate amount of energy, then the tissues or body organs that the cells are made up of do not work properly, in the same way that if power stations do not produce enough energy for the country there will be areas of blackout, where parts of the country cannot function without meeting the energy demands.
When a person has Mitochondrial Disease the Mitochondria in the cells are not producing enough energy for the cell. This can vary from them not working at all to sometimes just not working as well as they should. They are not as efficient as they should be.
In short, if a cell does not get enough energy (ATP) it cannot function properly.
There is a huge variety in the symptoms and severity of Mitochondrial Disease and it can be extremely variable from person to person. No two people will be affected in the exact same way. This is true even of siblings who may both be diagnosed with the same form of Mitochondrial Disease. It all depends on how many cells are affected, and where they are located in the body.
Every person with Mitochondrial Disease is affected differently. Each individual affected will have a different combination of Mitochondria that are working and not working within each cell.
However, there are times when particular body systems are affected in a recognizable pattern and these have particular names, for example Alpers and Leigh’s Syndrome. The most common parts of the body affected are those that demand the most energy and these include brain, muscle, liver, heart and kidney.
If a lot of Mitochondria in the body are affected in the important body organs, like the brain, Mitochondrial disease can be very serious.
The symptoms of Mitochondrial disease are typically progressive in body systems where the cells have a high energy demands, such as brain cells.
Typically in children suffering from Mito, signs and symptoms can include (but are not limited to) seizures, delayed development (including gross and fine motor skills), floppiness, low muscle tone, fatigue, vomiting, difficulties swallowing and/or digesting food, droopy eyelids (aka ptosis), respiratory problems, tremors (eg shaky arm or bobby head etc), loss of motor skills that had been developed. These are all common symptoms of Mito.
Possibly the most terrifying aspect of this disease is the fact that things can change in an instant. Due to the fact that the energy production of the body is severely compromised, something as simple as a common cold or a tummy bug can be potentially fatal to a person who suffers from Mito. This is not an exaggeration, this is FACT and it does happen. The ability to fight the infection is just not there and the body cannot keep up with the energy demands that are required to fight the infection. In short, healthy mitochondria are vital to sustain life. Without them, systems begin to fail and the result can be devastating. The result can be fatal. As it is a progressive disease, it can lead to multi organ failure which in turn sadly causes death. Please allow the term Mitochondrial Disease to be one that your mind is familiar with.
Inside the Mitochondria a reaction takes place that changes the food energy we have broken down into a different form of energy that the cell can use.
There are a number of complex chemical changes that need to happen to produce ATP (energy).
To change (or convert) the food energy we need special proteins to help called enzymes. Enzymes help to make the chemical reactions quicker. There are lots of different enzymes in each Mitochondrion.
Each cell has mitochondria in it to supply energy. The number of mitochondria in each cell can vary between one to hundreds. This all depends on how much energy that cell needs. A busy cell such as a brain or liver cell needs a huge amount of energy to function properly and as a result has a lot of mitochondria.
Just as in any reaction to produce energy, a “fuel” must be combined with oxygen. This happens within the part of the mitochondria called the Respiratory Chain (this is sometimes also referred to as the Electron Transport Chain).
This Chain is made up of five parts which are known as complexes. These complexes are numbered I (one) to V (five). To produce energy the reaction needs to pass through each part of this chain.
How Many Are Affected?
Did you know that more children pass away from mitochondrial disease than ALL of the childhood cancers COMBINED? The term needs to become known as a household term. Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10.
Although exact numbers of children and adults suffering from mitochondrial disease are very difficult to determine due to the fact that so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. Many are misdiagnosed. Sadder still, others aren't diagnosed until after death.
At the moment, there is no cure for Mitochondrial Disease. There is treatment for various symptoms that might occur as a result of the disease. For example seizure medications are available to control seizures.
We also try to make the respiratory chain more efficient by using a co-factors and vitamins. Examples of these are Co-Enzyme Q10, Thiamine and Riboflavin.
Certain types of Mitochondrial Disease may benefit from a special tailored diet. Anything like this should only be tried and tested on the advice of your metabolic team.
Any illness or virus can potentially cause a progression of Mitochondrial Disease, as the cells may not be able to cope with the extra demand placed upon them to fight the illness. A simple tummy bug or flu has the potentially to be fatal for a sufferer of Mitochondrial Disease. Of course, it is not possible to avoid these infections all of the time. In the event that one does occur, early medical advice and treatment is advised. Any treatment should be on the advice of your doctor.
How Do You Get Mitochondrial Disease
Mitochondrial Disease is something that one is born with even if the symptoms do not present themselves until much later. It is not something that be “caught” from someone else. It is not contagious.
Mitochondria are unique, as they have their own DNA built in.
Mitochondrial disease can be inherited. The manner in which this can happen is extremely complex. It can be from the mother or father or both, or in some cases the mistake in the faulty gene may have arisen for the first time in the affected person.
All of this should be discussed with a genetics counsellor, as each case is very different.
The Future and Research
At present, there is NO cure for Mitochondrial Disease. We are currently supporting research initiatives at the Wellcome Trust Centre for Mitochondrial Research.
We hope that by providing funds towards research, doctors will be able to achieve a greater understanding of exactly how the mitochondria function. This will help identify mutated genes and improve the speed and accuracy of diagnosis. As such, more specific and efficient treatment option can be developed and this will lead to the development of effective treatment options can be put in place and one day even a cure.
This horrific disease can strip everything from a child (or adult) little by little, from speech, mobility, gross motor skills, fine motor skills, ability to eat, vision and hearing while some never acquire any of these skills to begin with. More children pass away from Mitochondrial Disease than from all of the Childhood cancers combined and yet most people have never heard of it.
We need this to change. Without awareness there is no funding, without funding there is no research and without research there is no cure. The Katie Rose Foundation will strive to change this.
It is absolutely vital that medical professionals are familiar with Mitochondrial Disease. However, as it stands, this is far from the case. This leads to massive delays in terms of diagnosis. Sometimes it is sadly too late when a diagnosis has been determined. Ask yourself this…how can a doctor recognize the symptoms of Mitochondrial Disease and as such become concerned and investigate if the said doctor doesn’t even know what the symptoms are. This is not to be misinterpreted as a criticism or an attack as to the capabilities of doctors. Instead, it is just a lack of education, understanding and awareness with respect to Mitochondrial Disease. The Katie Rose Foundation wants to change this lack of understanding where Mitochondrial Disease is concerned. The Katie Rose Foundations wants the term Mitochondrial Disease to be as well known as Autism, Aspergers or Cancer.
The Lily Foundation in the UK has, and continues to do outstanding work in the area of Mitochondrial Disease and were heavily involved in the recent successful UK parliamentary vote on Mitochondrial Donation, to allow affected families further reproductive choice and the opportunity to have a genetically related child free from Mitochondrial Disease