A “three-person baby” may be Alice Gibson’s only hope of having a child.
The 28-year-old, who married her partner Peter last year, has always planned to have children.
“I think it’s pretty normal, you kind of picture yourself together, having a family. We talk a lot about what kind of parents we want to be, or how we want to bring up people,” says Alice.
The pair have been together for six years, but a few months ago she was diagnosed with mitochondrial disease.
“I don’t know exactly what type I have at the moment, which is why I have to have genetic testing, and that will let me know if I have a type I can pass on, or won’t pass on, to any future children,” she tells Mamamia.
Mitochondrial disease (or mito disease) is a debilitating genetic disorder that robs the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.
Most patients have a genetic mistake or mutation in the mitochondrial or nuclear DNA.
The condition can be inherited from the mother, the father or both parents, or can arise as a spontaneous genetic mistake at conception.
Alice had already experienced a couple of serious bouts of pain leading up to diagnosis.
"Just over a year ago, the pain came back and just wouldn’t go away. For me, it started through my joints, and moved into my muscles and through my whole body. So basically, I have pain every day, and weakness and fatigue," says Alice.
Alice's body doesn’t produce energy normally and although she works full time, she often feels very fatigued.
"My husband and I would love to have children, but for us, because of the timing of the diagnosis, we have to do the genetic testing.
"We won’t have children until we know whether or not I have a type that will be passed on. It’s really quite risky."
The newlywed says it’s not the right decision to have children until she has weighed up all the options.
"It puts life on hold a little bit. Trying to manage that as well as manage your disease, it changes your life really."
DNA from three people
But Alice could have a chance to have a healthy child - if she undertook mitochondrial donation.
The process is an IVF technique that could prevent transmission of mitochondrial disease from mother to child.
There are two techniques being developed that would result in a child with DNA from three people, according to the Australian Mitochondrial Disease Foundation (AMDF).
It means transferring nuclear genetic material from the affected mother’s egg into a donor egg that has had its nuclear DNA removed and retains only its healthy mitochondrial DNA.
The "three-person baby" would then not inherit the disease.
"Mitochondrial donation IVF is amazing technology and would be really important if I have a type that I’d pass on," says Alice.
The 28-year-old says she may not be able to have children without it.
"People will always be worried about techniques, particularly when it comes to IVF, but it’s not really three people, that 0.1 per cent is the third [person]. In a lot of ways it’s just a part of a human," says Alice.
Alice says she would like to have the technique available in Australia.
"It’s not actually adding anything to a human, it’s just taking away the risk of a disease. I think that’s really important to understand. It’s not like all these people with mitochondrial disease will be like, 'I really want my kid to have curly hair, or blue eyes'."
For Alice, it may give her options to have the family she has always wanted.
"You really want tight controls around it, because you don’t want any misuse or any risks involved to children, so I think that’s incredibly important, but it’s not even an option in Australia right now, so I think the legislation has to catch up with the science...
"It’s not like anyone would wish to have a child that’s unhealthy, it’s not a choice they would make."
Researchers describe mitochondria as "power plants" in every cell, which are needed to convert food into energy and if they don’t work properly in a baby, at the severe end, a pregnancy will not go full term and the child will not develop through to birth.
"The idea of what’s being referred to as ‘three person babies’, is using reproductive technology (IVF methods) to avoid having the child inherent severe mutations – changes in the DNA that cause disease," Professor David Thorburn, from the Murdoch Childrens Research Institute said.
The University of Melbourne professor says there is a long way to go for effective treatments for the disease but he believes being able to offer the IVF technique would be "hugely empowering" for people affected by the disease.
"Families affected by these diseases, or at risk of these diseases, see these sort of approach as offering hope that they can have a healthy child, or their daughters will be able to have a healthy child, and they’re not condemned to being unable to have children or throwing the dice and seeing what happens."
He says some families prefer to avoid the "three person" terminology surrounding the technique.
"‘Three parent baby’ particularly, but also ‘three person family’ – sounds derogatory, that it’s playing it up as if there were three equal contributors and in genetic terms, it’s a 2.002 person baby, if you want to look at it that way – 20,000 genes from dad and 20,037 from mum," says Professor Thorburn.
There is an expectation that the UK's fertility regulator, the Human Fertilisation and Embryology Authority (HFEA), will be able to issue licenses for the technique within months.
With families "lined up" for the technique, we could see a baby born in the UK as early as next year.
The AMDF says that mitochondrial donation techniques "are sufficiently developed to be effective and safe for in-clinic use".
The foundation is pushing to expand the reproductive options available to Australian couples affected by mitochondrial disease.
Families in the mito community are also calling on the federal government to change the laws to enable affected Australian couples to have healthy babies with these mitochondrial transfer approaches.
Professor Thorburn says mitochondrial DNA diseases affect at least one in 10,000 - that's at least 30 new cases each year in Australia.
"For most of them there is no other option to have their own child", he says.
To find out more or donate: Australian Mitochondrial Disease Foundation (AMDF).