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One morning in 2005, Shelley Beverley woke up to find that she had gone deaf. She was 21, and living in Johannesburg with her older brother Neil. I was very scared, she says. It was just so sudden. She struggled through the rest of the day, hoping that her hearing would come back, but it didnt. In one sense, her hearing loss wasnt entirely a surprise: Beverleys grandmother had been deaf, Neil had lost his hearing when he was 13, and her mum, Mary, had lost hers when she was 32. We knew it ran in the family, she says, but I thought Id been lucky and not inherited it.
Beverley, 35, lives in Margate, a semi-rural district south of Hobart, with her husband James. The couple migrated to Australia from South Africa in 2010, looking for space, buying 2 hectares of lush green grass at the foot of a forested ridge near the mouth of the Derwent River. We love the wildlife here, says James, looking out the living room window. Weve seen pademelons, echidnas, quolls, blue-tongue lizards, even a Tassie devil. At dusk, hundreds of kangaroos emerge from the forest to gorge on the grass. Its very peaceful, says James. Its really helped us after everything thats happened.
Apart from their deafness, Beverleys family had largely enjoyed good health. Then, in September 2015, her mother, Mary, then 62, started experiencing fatigue and stomach pain. Doctors in Durban ordered a colonoscopy, but the procedure made her worse. Her feet became swollen and purple. Because of their hearing problems, Shelley and Mary had communicated mainly in text messages. But soon I began noticing that her wording got a bit funny, says Beverley. It didnt always make sense.
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Beverley flew to Durban in February 2016, but by that time her mother could no longer talk or walk. She was so weak that she couldnt move her hands or lift her neck. Two days after Beverley arrived in Durban, her mother caught a virus that caused fluid to build up on her lungs. The doctors tried unsuccessfully to drain it. Shortly afterwards, she died. She weighed just 36 kilograms. It was so fast, Beverley says. And we were still in the dark about what she had.
Shortly before Marys death, Neil had also fallen ill. He developed a number of mysterious symptoms, including facial twitches and seizures. He kept falling over and tripping, and experienced vomiting and headaches so severe he lost his vision for weeks at a time. His behaviour became strange showering with his clothes on, and hallucinating.
One day, Dad was driving him around and Neil started talking to all these little people he thought were around his feet, says Beverley. Doctors in Durban had trouble diagnosing him, so they sent a biopsy to London, where he was found to have a type of mitochondrial cytopathy one of a large family of chronic and progressive diseases that affect the muscles, brain and nervous system. As the family soon learnt, the condition has no cure and no effective therapies. One of the common early symptoms is hearing loss.
Neil died in June 2017, aged 34, by which time Beverley had discovered she also had the condition. It was fear, so much fear, she says. She began experiencing symptoms, including migraines and vision loss. She has since developed diabetes, hypertension, gastro-paresis (when your stomach muscles dont work), and pharyngeal dysphagia (difficulty swallowing). Every time I get sick now, the flu or something, I think, When am I going to need a wheelchair or a feeding tube? When will my legs stop working?
Mito has taken everything from me, she says. If I die, at least James will still have a part of me.
Beverley has bright blue eyes and long, straight, ash-brown hair. Shes got a lazy left eye and uncommonly pale skin, which she attributes to her condition. Oh, and I had bunions out in 2010, she says, laughing wryly.
She doesnt know how long shes got left, but she is determined to make it count. She has joined mito awareness groups, and is an active member of the Mito Foundation, which supports sufferers, and funds research. She has exhaustively researched the condition and takes every opportunity to educate doctors. Youd be surprised by how little they know about it, she says.
But her overriding focus has been on a cutting-edge, and currently illegal, procedure called mitochondrial donation, a form of IVF which would allow those with the condition to have children, safe in the knowledge they would not be passing it on. Mito has taken everything from me, she says. If I die, at least James will still have a part of me. I would like him to look at our child, and say, You have your mums smile or your mums eyes.
An IVF treatment known as mitochondrial donation could potentially save up to 60 Australian children a year from being born with the condition. Credit:
Mitochondrial donation has been labelled immoral and unethical, a slippery slope to designer babies, not to mention potentially unsafe. The only country in the world to have legalised it is the UK. A report by medical experts into the technologys potential application in Australia is due to be delivered to Health Minister Greg Hunt this month.
This fight is really personal to me, Beverley says. Short of a cure, people with mito should at least have the option of having healthy children.
Mitochondria are microscopic structures in human cells that provide the body with energy. For this reason, they are often described as the cells powerhouse. They are crucially important: if your mitochondria fail or mutate, your body will be starved of energy, causing multiple organ failure and premature death.
A stylised representation of a mitochondrion, which provides the body with energy. Malfunction can lead to organ failure and death.Credit:Josh Robenstone
Mito, which is maternally inherited, usually affects the muscles and major organs such as the brain, heart, liver, inner ears, and eyes. But it can cause any symptom in any organ, at any age. Indeed, the term mito includes more than 200 disorders, the symptoms of which are maddeningly varied and seemingly unrelated, leading to delayed diagnoses or incorrect diagnoses or, indeed, no diagnosis.
Many of these people have been fobbed off by doctors or laughed off by people who think they are hypochondriacs, says Dr David Thorburn, a mitochondrial researcher at the Murdoch Childrens Research Institute, in Melbourne, who has diagnosed some 700 cases over the past 28 years. Most people are relieved to finally know what it is, because that is the end of that part of their journey.
Its sometimes said babies produced as a result of mitochondrial donation would have three parents the mother, the father, and the donor.
Up to two million people worldwide have some form of mito. - Others, like Beverley, who have a less severe type of the disease, will get adult onset, and can expect to become ill in their 30s, 40s or 50s.
According to Thorburn, One of the things that most dismays families with mito is the lack of control they have over passing the condition down to future generations of their family.
Remaining childless is one way to stop the condition from being passed down, as is adopting, but as Thorburn acknowledges, There is an innate desire in many individuals to have their own children. For these people, mito donation offers the very real prospect that the condition is eliminated from future generations.
Mitochondrial replacement is a highly specialised procedure, requiring a level of manual dexterity sufficient to manipulate a womans egg, which is roughly the width of a human hair. Within that egg is a nucleus, where a persons genes are located, and the cytoplasm, the jelly-like substance that surrounds it. Mitochondria are found in the cytoplasm.
Mitochondrial replacement involves taking a donor females healthy egg, removing its nucleus and replacing it with the nucleus of the woman affected by mitochondrial disease, but whose nucleus is healthy. The egg is then fertilised using her pa
rtners sperm. (Another option is to fertilise the egg first, and then swap the nucleus.) The resulting embryo is then implanted into the mother.
Researcher David Thorburn: "Mito donation offers the very real prospect that the condition is eliminated from future generations."Credit:Josh Robenstone
Since more than 99.9 per cent of our genes are found in the eggs nucleus, which remains unaffected, the procedure will have no impact on the childs height, hair colour or mannerisms. Despite that, its sometimes said that babies produced as a result of mitochondrial donation would have three parents the mother, the father, and the donor.
The technology has been tested in mice for more than 30 years, but only since 2009 has research been done on human embryos, mainly in the UK. Almost from the start, the research was subject to sensational headlines about scientists playing God, and the possibility of genetic engineering, with much of the hysteria being fuelled by anti-abortion groups. The Catholic Church described it as a further step in commodification of the human embryo and a failure to respect new individual human lives.
In 2012, the Human Genetics Alert, an independent watchdog group in London, wrote a paper comparing any baby produced with mitochondrial replacement to Frankensteins creation, since they would be produced by sticking together bits from many different bodies. According to the Conservative British MP Jacob Rees-Mogg, the procedure was not a cure for disease, it is the creating of a different person.
Regulators subjected the technology to four separate scientific reviews, together with rounds of ethical debate and community consultation. In 2015, the UK Parliament voted to legalise the technology for use in humans, on the proviso that it only be available to those women at high risk of passing on the disease. Since then, 13 couples in the UK have received the go-ahead to undergo the procedure.
Its unclear how many children, if any, have been born: the parents have asked that details not be published. Meanwhile, scientists like Thorburn wait eagerly for news of any developments. I know the UK researchers well and have asked several of them, and they are keeping completely quiet about it in respecting the families wishes, he says.
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If there have been babies born in the UK using the procedure, they arent the first. In April 2016, a child was born using the technique in Mexico, to a Jordanian mother who carried a fatal mitochondrial condition known as Leigh syndrome. The doctor in charge, an American fertility specialist called Dr John Zhang, later admitted that he had gone to Mexico because the procedure is illegal in America. In Mexico, he admitted, There are no rules.
Even those who want mitochondrial donation legalised in Australia concede that much remains unknown about the procedure. Its long-term risks can only be understood through lifelong health check-ups, but this is impossible until any children conceived via this procedure become adults. Implications for subsequent generations also remain unclear.
No medical procedure is 100 per cent safe, says Sean Murray, CEO of the Mito Foundation. But we think we are at the stage now where the benefits of the technology are greater than the risks.
One of the issues around safety concerns the compatibility of the donors mitochondria with the recipients nuclear genes. A 2016 study in mice suggested that mismatched mitochondria affected their metabolism and shortened their lives. Another concern is known as carryover, whereby a tiny amount of mutant mitochondria is inevitably transferred from the affected mothers egg into the donor egg during the procedure.
Instead of it being wiped out, the mutation might then reappear in the descendants of any girls born as a result. For this reason, some people have proposed that the procedure be restricted to male embryos only, but this raises all kinds of ethical issues around selective breeding and sex selection.
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Indeed, it often seems as if the term ethical minefield was coined especially with mitochondrial donation in mind.
My primary ethical concern has to do with the sanctity of human life, says Father Kevin McGovern, a Catholic priest and member of the National Health and Medical Research Councils Mitochondrial Donation Expert Working Committee.
If mitochondrial donation is permitted here, the technique most likely to be used is pronuclear transfer, which requires that both the donors egg and the affected mothers egg be fertilised. [This is to ensure that both eggs are at the same developmental stage.] But once the nucleus is removed from the donors fertilised egg, it is discarded. For people who believe that life begins at conception, this is akin to murder. You are creating two lives and destroying one for spare parts.
The Catholic Church has consistently opposed mitochondrial donation. In a Senate inquiry into the technology in 2018, Dr Bernadette Tobin, director of the Plunkett Centre for Ethics at the Australian Catholic University, suggested the process was intrinsically evil.
The inquiry also heard from Father Anthony Fisher, Catholic Archbishop of Sydney, who raised concerns about the moral right of the child to know how he or she was conceived the problem of what he called genealogical bewilderment and the donors right to remain anonymous. He also worried that women might effectively become egg vending machines: The availability of human ova is often assumed when people talk about reproductive technology as if they were somehow there in a cupboard to be used. In fact, it means women have to be used to obtain these eggs. They are extracted by invasive procedures that do carry some risk.
A report by medical experts into mitochondrial donation and its potential application in Australia is due to be delivered to Health Minister Greg Hunt this month. Credit:Alex Ellinghausen
Equally troubling for the Australian Catholic Bishops Conference, the peak national body for the churchs bishops, was the fact that mitochondrial donation involved conceiving babies not by marital intercourse [but by] a technical procedure.
Most of these concerns are redundant, argues the Mito Foundations Sean Murray. We already have a well defined regulatory framework for dealing with all this, he says. As far as the donors right to remain anonymous, we would defer to the appropriate federal or state and territory regulations that apply for sperm or egg donations. In regard to a kids right to know they had a mitochondrial donor, societally there seems to be a preference to inform kids. Its important for them to understand their genetic lineage.
Then theres the matter of consent. The parents can wrestle with the ethical issues and weigh up all the risks, but the only person who cant consent to the procedure is the unborn child. Well, says Murray, they cant consent to being born with mito, either.
The Mito Foundations Sean Murray: "In regard to a kids right to know they had a mitochondrial donor, societally there seems to be a preference to inform kids."Credit:Joshua Morris
Murray, 47, is one of the founding directors of the Mito Foundation, which was established in Sydney in 2009. Mito runs in my family, he says. My older brother, Peter, died of it in 2009 at 45, and my mum passed away in 2011, at 70. What people often dont understand is that even in families that have mito, each member can have different mutational loads basically, different amounts of bad mitochondria. Peter got a high load, but I didnt. Thats why Im still here.
A computer scientist by training, Murray now works full-time on the foundation. Much of his job involves travelling around the country, explaining mito to politicians, journalists and philanthropists, raising funds for research and, most crucially, advocating for a change to the laws.
Mitochondrial donation falls foul of two pieces of legislation: the Research Involving Human Embryos Act 2002, and the Prohibition of Human Cloning for Reproduction Act 2002. The laws p
rohibit the implantation of a human embryo that contains more than two peoples genetic material. The laws were subject to a mandatory review in 2010, but the then Labor government recommended they remain the same.
In 2013, the Mito Foundation urged the government to revisit its decision. Two years later, it began lobbying in earnest. What we tried to get across was that the science around mito donation has come a long way since 2010, says Murray. Also, the process that the UK went through to legalise it really reassured us that the procedure is safe and effective.
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In the past five years, Murray and his colleagues have consulted with more than 100 MPs and senators. Only one of them, according to Murray, said I dont like this. They have also talked to dozens of industry experts, including academics and medical and research bodies, about the benefits of mitochondrial donation. Most of them get it straight away, he says. We are talking about a technique that will prevent the chance of having a morbidly ill child.
Now, a breakthrough appears imminent. In February 2019, Health Minister Greg Hunt asked the National Health and Medical Research Council to look into the matter, review the science and conduct public consultation. The NHMRC is due to hand its report to Hunt this month. The expectation among the mito community is that he will recommend the laws be changed. Any proposals would then need to be debated in Parliament, where issues around reproductive medicine have, in the past, been hotly contested.
Murray expects some opposition from more conservative MPs, but nothing like the rancour seen in the NSW Parliament during last years debate over legalising abortion. Shadow health minister Chris Bowen has, for his part, said that Labor will support changing the laws.
Mitochondrial sufferer Shelley Beverley at home in Tasmania. This fight is really personal to me. Credit:Peter Mathew
Whether this will help people like Shelley Beverley is unclear. If Hunt gives it the green light, it will take two years at least for mitochondrial donation to become available to prospective parents, given the time involved in drafting and passing legislation, establishing a regulatory regime and getting doctors up to speed with the technology.
This will probably be too late for Beverley. I really only have about a year left to give it a go, she tells me. After that, my symptoms may progress and biologically things get worse after 35. She says she would consider going to the UK for the treatment, but that at present they are not accepting international patients.
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In the meantime, she watches TV, and reads a little, but not too much. (It puts me to sleep.) She gardens: she has a bed of huge white and pink roses out the back of her house, as a memorial to her mother and brother. And she eats. James cooks for me. He lets me choose the best meat and potatoes! Ive put on weight since I met him. She describes James as something close to an angel. He will listen to every problem I have or feeling I experience. He will always put me first.
Beverley started going out with James when she was 21, right around the time she first went deaf. I was so scared that he wouldnt like me as much. I remember calling him and saying I was scared he would leave me. But James is still here. Im very lucky to have him, she says. If I go, I want him to have a part of me.
To read more from Good Weekend magazine, visit our page at The Sydney Morning Herald, The Age and Brisbane Times.
Tim Elliott is a senior writer with Good Weekend.
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