Living with mitochondrial disease
Mitochondrial disease is a horrible disease, and you wouldn't
wish it upon your worst enemy.
What is mitochondrial disease?
As outlined in chapter one, mitochondria are found in the fluid surrounding
the nucleus of cells and are responsible for making energy within the cell. In
order to work, the mitochondria have their own mitochondrial DNA
In about half of all known cases, mitochondrial disease is caused by
mutations in the separate mtDNA that we inherit matrilineally (only from our
mother). This form of mitochondrial disease is known as mitochondrial DNA
disease. In other cases, mitochondrial disease is caused by genetic mutations
in the nuclear DNA we inherit equally from our mother and our father.
Mitochondrial disease can also arise as a spontaneous genetic mutation at
Mitochondrial disease is varied in presentation — it can be mild with
little or no symptoms or can be severe enough to be life threatening. It tends
to affect parts of the body that require a lot of energy, like the brain,
muscles, kidney and heart.
Mr Sean Murray, Chief Executive Officer of the Australian Mitochondrial
Disease Foundation (AMDF) told the committee 'there are hundreds of types of
mitochondrial disease. Saying "mitochondrial disease" would be
perhaps something like saying "cancer"'.
AMDF summarised mitochondrial disease as:
Mitochondrial disease is a debilitating genetic disorder that
starves the body's cells of energy, causing multiple organ dysfunction or
failure and potentially death. Mitochondrial disease occurs when a person's
mitochondria are not functioning properly. It primarily affects the muscles and
major organs, such as the brain, heart, liver, inner ears and eyes, but can
cause any symptom in any organ at any age.
Depending on which parts of a person's body are affected and
to what degree, people with mitochondrial disease may: have strokes or
seizures; be unable to walk, eat, swallow or talk normally; develop liver
disease or diabetes; suffer heart, respiratory or digestive problems; lose
their sight or hearing; suffer muscle weakness and pain; and experience
developmental delays or intellectual disability.
These diseases vary in presentation and severity, but common symptoms
include developmental delays, seizures, weakness and fatigue, muscle pain,
vision loss and heart problems, leading to morbidity and in some cases
Professor John Christodoulou, Chair in Genomic Medicine at the Murdoch
Children's Research Institute and the University of Melbourne Department of
Paediatrics, told the committee that mitochondrial disease can be immediately
present at birth, or can manifest itself later in childhood, or even as an
For instance, in some mitochondrial disorders, particularly
those affecting children, children will appear to be normal for a period of
time, maybe even for a few years, and then, when they have their very first
major significant illness and their body needs additional energy to be made,
they can't meet that need. That's when the disease may first manifest itself.
Rhonda told the committee her families first experience of mitochondrial
disease came without warning:
Our first exposure to mitochondrial disease was when my
brother was rushed to hospital with what we thought was a stroke. He was 34
years old. As part of determining what caused Peter's stroke, my whole family
was tested and it was identified that my two brothers, two sisters, my mother
and myself carried the defective gene.
Lack of awareness
Submitters and witnesses told the committee there is a lack of awareness
of mitochondrial disease even within the medical community, and this often leads
to poor health treatment. AMDF told the committee that patients and parents of
young children who have mitochondrial disease often 'feel like they're
explaining what mitochondrial disease is to the medical community'.
One submitter pointed to delayed emergency treatment due to this lack of
I can be screaming in pain, and having my family tell them
she has Mitochondrial Disease, just for them to question what the disease
really is and how they should they treat me for the pain/reason I have
presented to emergency.
Another submitter outlined that after the birth of a family member, the Consultant
Neonatologist at the neonatal intensive care unit at their hospital 'admitted
that he needed a two-hour meeting with the [neonatal intensive care unit's]
genetics/metabolics team to help him understand what this disease was all about
and how it was affecting M because mitochondrial disease was such a rare,
recently identified condition that he learnt nothing of it when he went through
Due to this lack of awareness, some people experienced a delayed
diagnosis of mitochondrial disease:
[Y]ou're underweight and you think it's just the case that
you're genetically that way. Then you start losing your hearing and you think:
'Well, that's okay. We'll deal with that.' Then all of a sudden you have
diabetes and you deal with that. You don't always put the picture together. For
many people, it's a long, long time to come up with a diagnosis—many, many
One witness, Rhonda, had a similar experience of delayed diagnosis in
With my brother's diagnosis, once he had his first stroke it
was quite a quick diagnosis. But, as a teenager, he was diagnosed with having
what was called a sleeping sickness. I mean, what is that? The doctors didn't
know what it was. Before that, my grandmother had the same symptoms had the
same symptoms [sic] as my mother, my brother and me. We just thought, 'Oh,
well, she's hard of hearing and she's not quite right,' but there was no
diagnosis. So I suppose, with mitochondrial disease in our family, the
diagnosis hasn't exactly been quick. It's been hanging around for a long time.
Others, particularly parents of children who died, did not receive a
formal diagnosis until years later when other family members became symptomatic
and underwent genetic testing.
Professor Carolyn Sue, Director of the Mitochondrial Disease Research
Centre at the Kolling Institute of Medical Research, leads a mitochondrial
disease clinic at the Royal North Shore Hospital. Professor Sue told the
committee that the referral patterns she sees in her patients, indicates that
patients have 'hidden disease' and she estimates on average, patients have seen
eight to 10 doctors before coming to her clinic for a final diagnosis.
AMDF echoed this view, telling the committee that:
It's not uncommon for patients to have found their way to a
mitochondrial disease diagnosis having spent 10 or so years bouncing around
from one specialist to another... So the medical community is treating them and
looking at their symptoms in silos, and it's not until somebody connects the
dots of all of these symptoms that somebody suspects mitochondrial disease. In
fact, it's not been uncommon for us to have patients report that they've ended
up at a psychiatrist or a psychologist because the medical community says,
'There couldn't possibly be this many things wrong with you; it must be all in
Rate of mtDNA mutation and
Because mitochondrial disease is poorly understood both in the general
Australian community and within the medical professions, it is often thought of
as a rare disease. However, AMDF told the committee it is more common than
people think and 'it's estimated that one in 5000 people born will ultimately
develop a life‑threatening form of mitochondrial disease in their
AMDF further told the committee that at least one in 200 people carry
one of the genetic changes in their mtDNA which can cause mitochondrial
A groups of leading scientists in this field submitted that these carriers are
likely to have 'symptoms that are common in the general population and unlikely
to prompt suspicion of mitochondrial disease while these individuals are in the
reproductive age group'.
The submission states that these carriers are likely to remain a 'hidden burden
of mitochondrial disease, at least until community genetic screening becomes
available that would detect people at risk of mitochondrial DNA disease'.
Professor David Thorburn, Head of Mitochondrial Research and Diagnostic
Laboratories at the Murdoch Children's Research Institute told the committee
[W]e believe that about 60
children born in Australia each year will develop severe mitochondrial disease
at some stage during their lifetime. I have helped to diagnose more than 600
children with mitochondrial disease, the vast majority of whom have died in
childhood as our treatments do remain largely ineffective.
Professor Sue provided evidence that the rates of mitochondrial disease
in adults is largely unquantified:
Our bottleneck is really how many patients we can fit in the
clinic as to how many patients are out there, because I can tell you now that
we won't be able to see a hundred thousand patients in our clinic in any one
day or month. However, we know that patients are hidden in various different
clinics—diabetic clinics, hearing loss clinics, cardiac clinics and probably
infertility clinics as well—where patients have died without the cause being
Professor Sue furthermore told the committee that the diagnosis rate of
mitochondrial disease is likely to increase in coming years:
We're looking at big data in trying to work out some of this,
but the size of the problem is only going to grow, in my opinion. It has grown.
The trajectory is going up. That's what I've seen from 20 years ago, and it's
getting higher and higher. We're trying to work out ways to service those
patients as much as trying to help them.
Broader health impacts
Many experts refer to Mitochondrial Disease as the 'Notorious
Masquerader' because it wears the mask of many different illnesses.
As outlined earlier in this chapter, mitochondrial disease often has a
delayed diagnosis due to a lack of awareness in the medical community. It is
increasingly the view of the medical and scientific community that
mitochondrial disorders may be present in a larger range of illnesses than
previously thought. AMDF contends that there is strong evidence that impaired
mitochondrial function is important in Parkinson's disease, diabetes and
diabetic complications. Disorders such as Alzheimer's, autism, cardiovascular
disease and some forms of cancer have also been associated with mitochondrial
dysfunction, as has the process of ageing.
Diagram 2.1—Where does
mitochondrial disease hide?
Source: AMDF, Mitochondrial Disease Information: Where does
mitochondrial disease hide if it is NOT diagnosed, https://www.amdf.org.au/mito-info/
31 May 2018).
There are few effective treatments and no cures for mitochondrial
disease. AMDF submits that this means the impacts on individuals and families
of mitochondrial disease are devastating.
Professor Christodoulou, a specialist in paediatric metabolic diseases
and a clinical geneticist, told the committee that although the capacity to
diagnose these diseases has been greatly enhanced in the past decade, 'where
we've failed our patients has been in the identification and delivery of
effective treatments for the vast majority of them'.
Living with mitochondrial disease
As outlined earlier in this chapter, mitochondrial disease is a debilitating
genetic disorder that can cause multiple organ dysfunction or failure and
potentially death. It primarily affects the muscles and major organs, such as
the brain, heart, liver, inner ears and eyes, but can cause any symptom in any
organ at any age.
Professor Thorburn told the committee that of the approximately 600
children he has diagnosed with mitochondrial disease, the vast majority have
A mother whose child died of mitochondrial disease described her
She had gone from the flourishing 8yr old, full of hope,
dreams and motivation, to having dementia, deafness, partial blindness, tube
feeds, incontinence, immobile, seizures, diabetes, multi-organ failure,
dysphasia and extreme fatigue.
The submitter went on to describe her work on a helpline:
So many of the hundreds of patients and families I spoke to
over those years, were like us, mortified, existing to survive now rather than
live. Trying their utmost to create as many precious memorable moments, always
looking for the smile in their child's or partner's face.
A submitter described the symptoms of her mitochondrial disease, which
in her case was categorised as mild:
It currently causes extreme fatigue and pain in all my
muscles. I have all my organs checked annually, visit my neurologist and an
array of other health professionals regularly. I can't work full time anymore,
can't exercise anymore and need a lot of sleep (10-12 hours a few times a
A sibling of a man who died of mitochondrial disease submitted a list of
his symptoms as 'loss of hearing, multiple stroke-like episodes, seizures,
extreme fatigue, muscle wastage, cognitive impairment, poor balance and loss of
motor skills. He also endured tonsil cancer and underwent radiotherapy which
affected his voice, his saliva glands and the muscles in his neck which never
recovered, leaving him with a permanently drooping head'.
This submitter listed the number of family members with mitochondrial disease,
or mtDNA mutations, as being his mother, a sister who died at three days old,
three other sisters and their children. This submitter likened mitochondrial
donation as a 'chance to break this cycle of generation after generation of
health catastrophes in families like mine'.
Other submitters described the 'dashed hopes, heartbreak and utter
despair' of being a parent to a child with mitochondrial disease:
Our oldest son...presented in 1980 at the age of four with
intermittent rhythmic convulsions of his right hand. These became progressively
more frequent and more violent until he died three years later.
When a precious seven-year-old son,
his frail body wracked by convulsions, asks if he's going to die what does one
say? [He] knew, and told us what he wanted to do before he died - another visit
to the Snake Hut at Taronga Zoo, a special cake for afternoon tea and much
A submitter described the impact of mitochondrial disease on her son,
diagnosed at age 22:
He is now age 40 years and the disease is slowly affecting
his ability to cope with everyday living. At age 22 when he was first diagnosed
with the disease he had a double chamber pace maker fitted to his heart. Since
then the disease has been gradually affecting his health in areas such as
hearing and eye sight. He now requires hearing aids and regular eye testing. He is at the stage where he has very poor vision
in one eye and needs glasses to help with his sight. It is affecting his
balance and he is reluctant to negotiate stairways etc. He has also been told
he is on the verge of being affected with diabetes but is trying to avoid it
with healthy diet and exercise. All brought
about by mitochondrial disease. Although he tries to stay positive I can see at
times that he has his down moments trying to cope with daily life.
Unfortunately there is no known cure for this disease and no way of knowing
what further health implications may arise for him in the future.
Shelley told the committee of her brother's condition, which affected
It was something that I didn't consider in terms of energy.
Energy is also about swallowing. It's about having the energy to swallow. It's
about having the energy to breathe, because all of those muscles are affected,
and all of that energy is used. Your brain uses 20 per cent of your energy, so
you're using so much of that energy every day to do things. So he struggled to
eat. He struggled to put on weight. He struggled to keep that energy
maintained. With the myoclonus seizures and the hearing loss, he then started
experiencing vomiting. He would experience severe headaches. He was then
investigated a bit further, and he was then given a diagnosis of stroke-like
episodes, where he would suddenly lose strength in one side. But these sorts of
strokes are more metabolic crises. It's that energy that you lose in your
brain, which resulted in hallucinations. He started seeing little people on the
floor. It also resulted in him not being able to communicate, because he had
words in his head that he couldn't get out.
Justin told the committee of the impact that losing his sight, as result
of mitochondrial disease, had on his life: 'As you can imagine, when you lose
your sight in the middle of your life it can have a devastating effect on your
psychology, on your way forward and on your life generally. I am a single man
and live alone, and so my independence has paid a price for that'.
Impact to families
Submitters and witnesses described the devastating effects of
mitochondrial disease, both on the impacted individual and on their families.
Ms Monica Ferrie, Chief Executive Officer of the Genetic Support Network of
Victoria described the 'suffering' of Australian families:
Children are being born with preventable disease and people
are living with diseases that would be preventable through mitochondrial
donation. Mothers pass this mitochondrial DNA onto their children and sometimes
they can suffer as a result of knowing that their DNA has passed the disease on
to their children.
A submitter with three children affected by mitochondrial disease described
the impact to her family:
The personal, emotional, social and financial impact of the
illness within our family, the loss of a daughter at age 18 after a 10yr
battle, the decline in our 17yr old son who is potentially repeating the same
battle again, and to look into the eyes of our 12yr old daughter who wonders if
she is next and not wanting a child of her own dying the same way, is an impact
I even find hard to imagine and repeatedly pinch myself, hoping to awake from
Another woman with mitochondrial disease submitted that her diagnosis
directly impacted her decisions whether to have children:
During my pregnancy I had no idea that my condition could be
genetic and could affect my child, who is now 21yrs. Upon realising the then [sic]
possibility of genetic implications, I made the sad decision that I would not
risk passing mitochondrial disease onto any of my future children [and] that I
would not have any more children. When he was younger, my son David would ask
if he could have a sibling, unfortunately he grew up as an only child [and] we
do not yet know if he will become affected by mitochondrial disease as I still
have not yet received a genetic diagnosis.
Mary told the committee of the significant impact that mitochondrial
disease had in her family, which included 19 people with mitochondrial disease.
'I am in a position where I have the disease. I look after children who have
the disease, and I'm also a carer for my mother who has mitochondrial disease.
It really has devastated every generation of our family'.
Mary went on to state that in her family, mitochondrial disease was also
characterised by stillbirth and late miscarriage, and more broadly
mitochondrial issues have a strong association with autism and other
Costs of mitochondrial disease
There are many costs for people living with mitochondrial disease, both
to the healthcare and social services systems, as well as significant out of
pockets costs to individuals. There are also related costs that are more difficult
to quantify, such as carer costs of reduced economic participation.
AMDF provided an estimate of lifetime health care costs for a child born
with a rare disease at around A$2.5 million in the UK and about A$5 million in
the United States of America (USA).
Other submitters also pointed to the very high costs of medical care for
babies with severe mitochondrial disease. One submitter, the grandparent of a
baby who lived only a few months, provided an estimation of medical costs:
On top of the very sad personal and social costs of this
trauma, the economic costs to the national healthcare budget of M's short life
were significant and should be noted. Based on the 2013 schedule of fees for
non-eligible (foreign visitor) patients for Eastern Health (BHH), it has been
estimated that over M's life, true (not out-of-pocket) costs might have
amounted to $300–350 thousand dollars. ...
If M had had a less severe version of mitochondrial disease
and lived longer, the public costs via [the National Disability Insurance
Scheme] and other schemes of assistance would have been much greater.
One submitter outlined the varied medical costs as including 'constant
visits to endocrinologists, cardiologists, neurologists, physiotherapists,
psychologists and other professionals, as well as medication and transport
The submitter went on to cite the introduction of the National Disability Insurance
Scheme (NDIS) as an opportunity to coordinate services for people, but stated
that because mitochondrial disease often takes years to diagnose, there will
still be a strain on the medical system for many more years than necessary.
AMDF also noted the NDIS as an improvement to the lives of some families
living with mitochondrial disease, citing information gathered from members of
the mitochondrial disease community that prior to the NDIS, families were
paying thousands of dollars out of pocket for medical and therapy costs. AMDF
estimated that the cost to taxpayers via the NDIS could range up to $120 000 per
month for one individual child with mitochondrial disease.
One submitter with mitochondrial disease outlined an estimate of costs
for their case of adult mitochondrial disease:
The amount I have used the Medicare system and gone beyond my
threshold in the last 2 years is unbelievable. In 2016 alone Medicare had to
pay for approximately $4000 worth of testing and Medical Professionals Fees. So
for myself alone without adding up all of what other mitochondrial Disease
patients use, it is taking a lot out of the system and if this can be
prohibited for future generations, I believe this is our best option.
Justin also pointed to the high health care costs of mitochondrial
disease and told the committee that even with his diagnosis, which he described
as relatively straightforward, his testing included 'two MRIs, lots of blood
and urine tests, audiology testing, cardiology testing, gene testing and visual
exams, all funded by the public purse'.
Justin went on to say his ongoing care included seeing 'many different
specialists in Adelaide, where I live, and also here in Sydney. I see four
different specialists here, including Professor Sue. It's also funded by
Medicare, of course. I also have a heavy reliance on my GP, of course'.
An economic analysis of the health system and administrative costs of
introducing mitochondrial donation undertaken by the Health Department in the UK
calculated a net benefit of GBP32 million per annum (approximately A$61 million)
for mitochondrial donation if it enabled the births of just 20 healthy children
That estimate does not include savings from social services, income
support or the increase in economic participation of affected individuals,
parents and other carers. Other health cost information from submitters shows
that in the USA, direct costs for hospitalisation of mitochondrial disease
patients is approximately US$113 million per annum.
Professor Thorburn provided an estimated health care savings of A$33 million
to A$66 million per year from introducing mitochondrial donation in
Australia, resulting in a conservative estimate of five to 10 children born
without mitochondrial disease.
Submitters described the cost of mitochondrial disease as being much
broader than the medical costs, as people with the disease – and their carers
– have significant loss of economic activity:
She was unable to work, drive a car or socialize. Eventually
she lost all independence and could not cook or care for herself. One of us,
usually her mother, had to be with her constantly.
A young woman with mitochondrial disease submitted that she often relied
on family assistance for daily activities. She submitted 'I become reliant off
their assistance for the things that I can no longer do myself. They help me
cook, shower, drive, and constantly support me through my darkest of times'.
The parents of a young boy with mitochondrial disease outlined the costs
of mitochondrial disease as being threefold. Firstly there were medical and
support costs of medical specialists, classroom supports, subsidised medicine,
weekly therapy sessions and an assumed lifetime of welfare dependency.
Secondly, the parents had an economic participation cost, as both had worked
part-time since their child's diagnosis and it was expected at least one parent
would have to quit working to become a full time carer. Thirdly, the parents
pointed to the emotional cost, saying '[t]he emotional drain on our lives, the
lives of our families and friends have been significant, this has impacted our
sense of wellbeing and happiness in society'.
Justin told the committee that due to his vision loss from mitochondrial
disease, he received a blind pension, as did his sister: 'I also receive a
mobility allowance and transport concessions that are very useful but are, of
course, a drain on the public purse. Likewise, my return to work has been
facilitated by very expensive technology that allows us to adapt our workplace
through software and other modifications. I would estimate, from what I
understand, $25 000 to $30 000 has been spent on that alone. That process has
been assisted by the support of a disability support organisation, also funded
by the public purse.' Justin also pointed to the impact to his economic
activity, as he formally had a senior role in the South Australian Government
and now had a part-time role in a less senior position.
Professor Aleksandra Filipovska, an expert in mitochondrial disease with
the Harry Perkins Institute of Medical Research, outlined the varied costs of
mitochondrial disease and their impact to individuals and families:
Because of the severe and drawn-out course of these diseases,
the emotional, societal, and financial costs are devastating. As a researcher
who has had experience in providing molecular diagnosis for patients and
families affected by mitochondrial disease I have seen the devastation it
causes not just in terms of the difficult pathologies but the stress and
emotional turmoil in caring for the affected loved ones as well as the concerns
related to future family planning.
Options for having children
A diagnosis of mtDNA mutations, whether or not it has manifested itself
into mitochondrial disease, has strong implications for the ability to have
healthy children because the mutations are inheritable. Professor Thorburn
noted that, in some cases there is a 100 per cent chance of passing on the
A submitter affected by mitochondrial disease considered its
heritability to be one of the worst aspects of the disease:
The trauma of watching both my mum and brother deteriorate so
rapidly and so devastatingly, will stay with me forever...Knowing all this, and
losing half my family in 16 months is difficult. What makes it even more life
changing is finding out that I too have this disease and will possibly face the
same devastating journey. But worse than this, I would almost certainly pass
this disease on to my children.
A submitter described the option of having children without intervention
as a gamble:
[I]f you have a defect in your mitochondrial DNA, you're
essentially making a gamble. There's no way of knowing if you'll pass on a
little bit of the defected mitochondria or all of your defected mitochondria.
Meaning the child could have a mild to extreme form of the illness. Mild like
me or extreme and be terminal. And we're just not the gambling types.
However, the introduction mitochondrial donation IVF,
literally removes the risk of throwing the dice and gambling with a future
Another submitter described mitochondrial disease as a 'ticking time
bomb' hanging over multiple generations of their family.
One submitter, a parent of a young child with mitochondrial disease,
described the situation faced by people with mitochondrial disease when considering
Families with Mitochondrial disease face a terrible choice.
Do they run the risk of passing their mitochondrial donation onto the next
generation or lose the opportunity to have children?
Shelley told the committee about the increased importance of having a
child with a genetic link to couples who faced the potential of one of them
dying early from mitochondrial disease:
We're not going to play god. We don't want to design a baby.
We just want to have a healthy child as much as possible and be able to call
them our own. If something were to happen to me, which I believe it will, my
husband can look at that child and say: "You've got your mum's eyes.
You've got her personality. You've got her smile. You're just as kind as she was."
So, for us, that's a really important component that we believe
this can offer us.
The current options available to women with mtDNA mutations when
considering having children are primarily to use donated eggs or to adopt.
For women who want to have a child with a genetic link, an option is in vitro
fertilisation (IVF) using pre-implantation genetic diagnosis (PGD), where
embryos are tested before implantation to look for those with the lowest
proportion of mutated mtDNA. This option only works for some types of
mitochondrial disease and has other limitations.
The various options for having children with a reduced risk of
mitochondrial disease are outlined below.
IVF and Pre-implantation genetic
As discussed above, PGD is an IVF technique used to test the embryo
prior to implantation. A key limitation to this method is it cannot be used by
all women with mtDNA mutations. Some women have normal and mutated mtDNA in
their cells (heteroplasmy) and others have all mutated mtDNA (homoplasmy). PGD
can only benefit women who are heteroplasmic. Moreover, this technique can only
reduce, not eliminate the risk of having an affected baby. Even if unaffected
themselves, girls born after the use of this procedure may themselves still be
at risk of having affected children, as some abnormal mitochondria may be present
in their eggs.
A group of leading scientists in the field of mitochondrial disease
submitted that women with lower amounts of mtDNA mutations are at lower risk of
having a child affected by mitochondrial disease and techniques such as PGD can
However, the submission goes on to state:
[I]t remains impractical to predict the actual risk for most
women, many of whom are thought to have a risk of between 50% to 100% of having
a child with severe disease. Thus for probably most women from families with
mtDNA disease, mitochondrial donation offers the best prospect of having a
healthy child related to both parents.
Prenatal diagnosis can be conducted on a pregnant woman at around 11–14
weeks gestation, usually by performing a genetic test on a placental tissue
biopsy. If an mtDNA mutation is found, parents then face a choice of either
continuing or terminating the pregnancy.
Professor Christodoulou explained the improvements in prenatal testing
in determining potential genetic mutations in a foetus:
[D]epending on which specific mitochondrial DNA change you're
looking at, you can actually be very accurate in your prediction about what the
likely outcome of that will be to subsequent babies...for instance, for a
particular mitochondrial DNA mutation, pre-implantation genetic diagnosis is a
very viable alternative to mitochondrial donation. However, for many other
mitochondrial DNA mutations, mitochondrial donation is really
the only option.
Professor Thorburn further told the committee that for some women, a low
mtDNA mutation load means they have a low risk of passing on mtDNA mutations to
children and prenatal diagnosis and PGD are good options, however 'for the majority
of women, there is going to be a substantial amount of the mutant mitochondrial
DNA in many or all of their eggs and so it's very unlikely that those
techniques will work. It's quite complicated genetics'.
A submitter affected by mitochondrial disease explained the PGD process
she had undertaken. She had undertaken five IVF cycles – at a cost of $7000 per
cycle – which retrieved around 50 eggs, from which only two embryos had a
relatively low mutation loading of 32 per cent, not meeting the generally accepted
benchmark of a maximum 15 per cent mutation load:
Emotionally, the rollercoaster of having to desperately rely
on success at each stage – retrieving as many eggs as possible, having them
fertilise, seeing how many survive and grow to day 5, then biopsy the surviving
embryos to establish their mutation loading. Going through each stage of a
cycle generally means going from 14 eggs down to 3 biopsied embryos only to
find out that they do not meet the loading threshold. It is a difficult and
draining process that seems unfair and frustrating. With any couple trying to
have a child, time is a factor, as well as health. For us, PGD seems to show
Another submitter described the PGD process that her daughter had
undertaken, after losing a baby to mitochondrial disease. The daughter had undergone
a year of IVF with PGD and had embryos implanted, but had no success through
IVF. The submitter argued that they considered the best option
for their family was one that was not open to them because mitochondrial
donation is prohibited by legislation.
Mary described her experiences with IVF and genetic counselling as a 'process
of discussing the value of our unborn children's lives'. Mary further told the
Mitochondrial donation gives my children a chance to not go
through that, to not have to consider the value of their own lives and those of
their unborn children, and to raise healthy children who, in turn, will then
have healthy children. If we choose not to do this there is no choice for our
family. There will just be generation after generation of this terrible
Non-genetic options: adoption, fostering
or donated eggs
Submitters who were not in favour of mitochondrial donation, generally
for ethical reasons, argued that other options could be used for people with
mtDNA mutations who wished to have children. These were primarily adoption or
fostering, or the use of donor eggs for IVF.
Another option that was suggested as a possible alternative to
mitochondrial donation was using IVF in conjunction with an egg donated from an
As outlined by Professor Sheryl de Lacey from Flinders University, most
egg donation in Australia relies on local donors who are often family members. Egg
donation from family members is obviously not suitable for mitochondrial disease
which is a genetic condition. An estimated 25 per cent of Australian patients
who cannot get a local donor acquire one from overseas. This raises its own
ethical challenges due to differing regulation of the donor process and information
in those jurisdictions.
Adoption and fostering
Critics of mitochondrial donation argued that adoption or fostering
'would offer a simpler path'
to parenthood. However, adoption and fostering programs in Australia have
strict eligibility criteria, including health screening. AMDF has sought
information on eligibility for people with mitochondrial disease (or
asymptomatic mtDNA mutations) and in a submission indicates a lack of
definitive advice on eligibility. AMDF notes that this is generally due to a
lack of specific preclusions.
AMDF further notes in a submission that given the level of trauma that
children involved in adoption have faced, states and territories 'have a
preference towards prospective parents who have the highest possibility of seeing
children into adulthood'.
Anglicare is an Anglican diocese-run charitable organisation that offers
foster care and adoption services. On its website, Anglicare lists its
eligibility criteria for families looking to adopt. One of the criterion
relates to health which relevantly provides:
Health – Applicants must be non-smokers, in good general
health with normal life expectancy.
Even if people living with mitochondrial disease were eligible to adopt,
Professor de Lacey explained that adoption is not a simple substitute for
biological reproduction. In Australia, there are few children in need of
adoption and most children are adopted by people who already care for them.
Professor de Lacey provided the committee with the statistics on local
Australian adoptions in 2016–17:
Of the total number of adoptions only 42 (13%) were 'local'
adoptions, ie. Adoptions of an Australian child to parents not previously known
While it might entail less scientific risk than mitochondrial donation,
it is not clear that adoption is necessarily an option for women living with a
For some submitters, adoption or fostering was not considered a suitable
option, as they had a strong desire to have a genetically linked child:
We have considered all the other avenues of egg donor,
adoption or not having children. We have a strong desire to have our own child
who inherits our genes, our personalities, ourselves. If something were to
happen to either of us, we would still have a part of each other. When we heard
about mitochondrial donation, we felt that this would provide us with the
opportunity to have a child who would be genetically (99%) ours, but most
Critics of mitochondrial donation have also proposed the option for
remaining childless should be considered by people with a risk of passing on
mitochondrial disease. Archbishop Anthony Fisher, Archbishop of Sydney and Vice
Chair of the Australian Catholic Bishops Commission, told the committee that 'obviously
the more serious the risk [of passing on mitochondrial disease] the more you
are going to have to think very carefully and act responsibly'.
The submission from the Anglican Church Diocese of Sydney states:
[W]e do not believe that a 'right' to a biological child
exists, and can see no grounds by which such a right would be established.
We therefore do not accept the premise that any means
available to obtain offspring should be made available to individuals suffering
from the inability to ensure that their offspring is healthy.
The committee notes that for many people there is a desire to have a
genetically linked child.
The committee also notes that reproductive technology is widely used by
the Australian community, including the use of donor gametes. Donor gametes are
commonly used to overcome medical infertility, social infertility or
transferable genetic conditions. As a result many families are successfully created
where the resulting offspring is not genetically linked to one or both parents.
The committee notes that reproductive technology is expensive for both
taxpayers and prospective parents. The committee considers that it is desirable
for governments to support fertility treatment as a social good. However, it
does not support the notion that the state has an unlimited responsibility to
support people to become parents, and considers that any such treatments should
be provided on an equitable basis.
As outlined in chapter one, mitochondrial donation is a technique to
replace the mutated mtDNA in an egg, or a pre-embryonic fertilised egg. Chapter
three discusses the science in greater detail.
A number of witnesses and submitters impacted by mitochondrial disease
made strong requests for this technology to be made available to Australian
families. A submitter who had two children die from mitochondrial disease
described mitochondrial donation as an opportunity for future children to
'experience the joys and sorrows of a full life that [their children] couldn't'.
The submitter went on to state:
Our remaining children have had their DNA sequenced and they
know they won't develop mitochondrial disease so in that sense the uncertainty
for our family is over. But for other families with mito around Australia who
want to have children, their nightmare is only beginning. The constant anxiety
and sense of hopeless foreboding at knowing that their precious child could be
affected is overwhelming.
Another submitter argued that as there is no cure for mitochondrial
disease, mitochondrial donation is the only hope for some families:
A big black cloud that has been hanging over my family for
years is slowly starting to dissipate. If this technology was available when I
was having my children, I most certainly would have used it and I will be
strongly encouraging my daughters... to consider Mitochondrial Donation if ever
they decide to start a family.
Professor Sue, a clinician working in mitochondrial disease, told the
committee of that she sees patients on a weekly basis who are asking for access
to this technology 'because the patients are traumatised by family members
being lost, they live day to day with the burden of illness of this disorder
and they are keen to have children without this disorder.'
Another submitter put their request very simply:
Please approve [mitochondrial donation]...no Mother should have
to sit by a bed watching their children die of something that you have in your
power to help prevent.
The committee agrees that mitochondrial disease is a devastating and
often life-threatening condition. The traumatic impact to parents who have
watched their child die, in some cases more than one child, cannot be overstated.
The committee further agrees that there is a desire in most people to
have a genetically linked child.
There are a range of options for people impacted by this genetic
condition to have children. However, many of those options do not result in a
genetically linked child and others are not suitable for women with certain
mtDNA mutations. For those women, and indeed the children they wish to bring
safely into this world, mitochondrial donation may provide a new option.
The committee is cognisant that this technology, like all new medical
therapies, comes with risk and ethical concerns that must be taken into
consideration prior to any possible change in legislation.
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