It’s highly likely you’ve never heard of Mitochondrial Disease – we certainly hadn’t, but you may have heard of Charlie Gard, or maybe the storyline of Oliver in Coronation Street. The first time I ever heard of a metabolic disorder was in the back of an ambulance with Maisie in her doctors notes – I was still non-the-wiser.
Here is some of the information we have learnt along the way…
What is Mitochondrial Disease?
Mitochondrial Disease is a type of metabolic disorder: a problem with a person’s genes which means they can’t metabolise or break down or process energy effectively. Specifically with Mitochondrial Disease there is an issue with the mitochondria within an individual’s cells. Mitochondria are responsible for generating 90% of our energy, so if it isn’t working correctly, it can have a very significant impact.
How common is it?
As Mitochondrial Disease is hard to diagnose, it is hard to know exactly how many people suffer from it. However, it’s estimated that one in every 4,000 people has a genetic mitochondrial disease, at varying degrees of seriousness.
How many types of Mitochondrial Diseases are there?
There are many, many types of Mitochondrial diseases, and each person can be affected in a number of different ways. There are many types that are not yet diagnosed, or they are so rare they only affect one or a handful of individuals. Different types are being diagnosed all the time, all over the world.
There are several different ‘levels’ of diagnosis. One is suspected Mitochondrial Disease – where the medical professionals are pretty sure judging by an individual’s symptoms. Another is medical diagnosis – usually when blood tests or a muscle biopsy indicates levels of certain chemicals in the cells suggests a Mitochondrial disorder. And the final diagnosis is a genetic diagnosis, whereby professionals find the specific gene and the specific Mitochondrial disorder that affects an individual.
In a really rough estimate, only 50% of Mitochondrial Diseases are genetically diagnosed. And we are one of the lucky ones to have a genetic diagnosis. This means that siblings could be tested for Maisie’s specific gene in pregnancy. As Maisie’s genetic disorder is recessive, any child we have has a 1 in 4 chance of developing Mitochondrial Disease.
What are the symptoms?
Like everything with Mitochondrial disease, symptoms can vary immensely. Some people only develop symptoms once they reach adulthood, or some children only become affected as teenagers, or in later childhood. Whilst others, like Maisie, show symptoms at a very young age, at just a few weeks’ or months’ old. As a general rule, the earlier symptoms show, the worse the general prognosis.
It is a progressive disease meaning it will get worse over time. But again, it varies hugely from person to person. Some people can remain stable for a number of years, and even see some improvements, whereas others can progress downhill very rapidly. It makes it very hard for families and individuals, as it is so hard to predict the future.
One of the heartbreaking things about Mitochondrial Disease is that there is currently no cure. I always remember the doctor telling us that Maisie wouldn’t even be considered for a heart transplant – there really was no hope for her. However, with help from organisations such as the Lily Foundation, new research studies are underway all the time, and we are moving ever closer to finding a cure. This is why we campaign as much as we can – to raise awareness and funds so that one day, there will be hope for those who receive a Mitochondrial diagnosis.