Hope for Families with Mito

The Senate Community Affairs Legislation Committee recently undertook an Inquiry into the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021.  

The Senate Inquiry Report was published on 18 August 2021 and the Bill and accompanying documents can be accessed here. 

Liberal, National and Labor MPs and Senators will be allowed a conscience vote on the Bill which is expected in the coming months. To become law, the Bill needs to pass both the House of Representatives and the Senate with a majority of votes.

On 11 May 2021 the Australian Government announced a commitment of $4.4 million over 4 years (and a total of $10.3 million over 10 years) from 2021-2022 to the staged implementation of mitochondrial donation in research and clinical settings in Australia.

The investment commitment announced in the 2021-22 Federal Budget follows the introduction of the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 into the Parliament in March this year which paves the way for legalising mitochondrial donation in Australia.

When introducing the Bill into Parliament, Health Minister Greg Hunt made a heartfelt speech and acknowledged five-year-old Maeve Hood who lives with mito and after whom the Bill has been named. You can read more here.

We are encouraged by Prime Minister Scott Morrison's impassioned public endorsements throughout the process. Read more here.

We thank all of the mito community, the general public and the medical and research community who have contributed to the public consultation process and shared their views.

Significant interest continues to be generated in the media and we are grateful to all of the mito families that have been willing to openly share their personal stories. This is an enormous help to build awareness and support.

You can still help the process by engaging your local MP and sharing why you feel mitochondrial donation is important. Please call our office on 1300 977 180 and we can help you to make a difference.

What is mitochondrial disease?

Mitochondrial disease (mito) is a debilitating genetic disorder that robs the body’s cells of energy, causing multiple organ dysfunction or failure.

One Australian baby is born every week that will develop a severely disabling form of mito. Sadly, most children diagnosed with mito die in the first five years of life.

An estimated one in 200 people, or 120,000 Australians, carry the genetic change that puts them at risk of developing mito, or passing it on to their children.

What is mitochondrial donation?

Mitochondrial donation is an IVF-based technique with the potential to prevent mitochondrial disease (mito) in the next generation of Australian children.

Mitochondrial donation involves removing the nuclear DNA from a patient’s egg containing faulty mitochondria and inserting it into a healthy donor egg, which has had its nuclear DNA removed. This can be done before the egg is fertilised (maternal spindle transfer) or post fertilisation (pronuclear transfer). The fertilised egg is transferred into the mother exactly as per current IVF practice.

As the nuclear DNA is retained, the unique genetic information (that makes us who we are and determines what we look like) is passed on from mother to child, but the mitochondrial defects are not.

While mitochondrial donation is legal in the UK, it is not yet legal in Australia.

Facilitated by the NHMRC (National Health and Medical Research Council) on behalf of the Australian government, public consultation was open from September til 29 November 2019 to seek community views on the possible introduction of mitochondrial donation into Australian clinical practice.

Media Coverage

What impact would mitochondrial donation have?

Legalising mitochondrial donation would allow impacted Australians to have genetically related children without the risk of them inheriting mitochondrial DNA defects which will drastically limit their life.

An estimated 56 babies born each year in Australia could potentially be saved from inheriting mitochondrial disease.

Aside from the devastating physical and emotional impact on patients and their families, many patients have repeated and prolonged hospital visits, are unable to work and may need full time care. By protecting the next generation from mitochondrial disease, mitochondrial donation would have positive economic impact by removing this reliance on community, healthcare and social services systems.

These stories highlight the real impact on real Australians:

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Maeve

Maeve's Law is named after five-year-old Maeve who lives with Leigh syndrome. Her parents are proud that her life will have even more meaning by helping to prevent other Australian families from passing mito onto their children.

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Maeve's Story

At five months old, Maeve developed bronchiolitis and she ended up in ICU for a week. She was having trouble feeding and had to be fed via a feeding tube.

After that, her development seemed to flatline. She continued to have trouble feeding and wasn’t putting on weight. Being my third child, I could tell Maeve wasn’t developing at the same rate as her older sisters, Olive and Isla. It became obvious she was lagging developmentally.

After watching her decline before our eyes, we were desperate to find some answers and fought hard to get her an MRI scan. She was eventually diagnosed with Leigh syndrome, a severe mitochondrial disorder, at 18 months old.

We were told that her maximum life expectancy is about 10 years. But we try not to think about the numbers. Our focus is on being positive and creating as many memories with our family as possible.

Maeve is now five years old and every day with her is a blessing. She can’t walk unaided; she uses leg braces and specially made shoes that allow her to walk small distances without a walker. Maeve can’t really talk, but she’ll point to things, and she can say a handful of words. There is a gradual decline with Leigh's, and most likely it will be one of her major organs that will fail.

But Maeve is lively and so happy. She has a beautiful energy that draws people to her. She just wants to give people hugs all the time!

We are proud to lend her name to the Mitochondrial Donation Law Reform Bill. Maeve’s life will have even more meaning by helping to prevent other Australian families from passing mito onto their children.

Bethany Hodge - 3

Bethany

Bethany sees the impact of mito as her sister lives with a type of mitochondrial disease called MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres). Bethany hopes that with mitochondrial donation, she can have a family free of this horrible genetic condition.

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Bethany's Story

Growing up, my sister displayed a number of symptoms of mitochondrial disease including ataxia (tremors) in her hands, balance issues, hearing loss, speech impairment and intellectual delay. We knew there was something wrong, however, doctors couldn’t determine what caused her symptoms or how we could help her.

After a number of years of being put through various testing, my sister was diagnosed with a type of mitochondrial disease called MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres). Once we received this diagnosis the rest of the family was tested. As a result of this testing, we discovered that mum, my brother and I were carriers of mitochondrial disease.

On a daily basis, my sister struggles with tasks such as eating, doing up buttons and shoelaces, writing and reading. In order to feed herself she uses one hand to steady the other. She has difficulty with her limbs which can impact her balance, thereby making her clumsy. Given these issues made my sister “different” she is often quite isolated and struggles to make friends. As a family, this has caused a lot of stress as she requires support with essential basic day to day tasks.

Mitochondrial donation would allow my partner and I to start a family with the peace of mind that we will not pass this horrible genetic condition onto our children. It will stop this vicious cycle of it being passed on from generation to generation. Mitochondrial donation will also provide us with the ability to have a child that has my DNA rather than the DNA of a donor egg. After seeing how mitochondrial disease has affected my sister on a day to day basis, we want to do everything in our power to prevent it from happening to our children.

Shelley Beverley

Shelley

Shelley had never heard of mitochondrial disease until 3 years ago - when her mother experienced a rapid decline in health.

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Shelley's Story

Shelley had never heard of mitochondrial disease until 3 years ago, when her mother experienced a rapid decline in health and passed away within months. Her brother passed away less than 18 months later, just weeks before his 35th birthday. It was found that both had mitochondrial disorders.

After genetic testing, Shelley was diagnosed with MELAS (Mitochondrial enchephalomyopathy, lactic acidosis and stroke-like symptoms). Currently she experiences hearing loss, hypertension and a heart condition which puts her at high risk of heart failure due to the family history. She has mitochondrial diabetes, muscle weakness and exercise intolerance. With such varied symptoms, Shelley’s life is filled with appointments with eight different specialists.

Shelley says “Mitochondrial disease has taken away half of my family, and left me fearing for my own future and for my partner. I am devastated that this disease could take away the opportunity to have our own biological child. I truly appreciate and value the traits I inherited from my mum and often look in the mirror to reflect what part of me belongs with her. I want this for my own child.”

Shelley’s partner, James says “if anything were to happen to Shelley, I want her special qualities to live on in our children. Mitochondrial donation would enable us to have our own biological child, free from mitochondrial disease. The harsh reality is, we have been ready to start a family for some time and our time is running out fast.”

The Beard Family

The Beard Family

In May 1997 everything changed for the Beard family when their daughter, Pippa, woke up in severe pain, unable to move.

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The Beards' Story

At 19 years old, Pippa Beard awoke one day in severe pain and could not walk. She spent one month in hospital and was initially diagnosed with fibromyalgia (a form of chronic fatigue) and required intensive rehabilitation to learn to walk again.

Six months later, she woke screaming with temporary blindness followed by multiple seizures. On her twenty-first birthday, Pippa suffered a complete nervous breakdown with frightening hallucinations.

As no two episodes were the same, and the range of symptoms so unique (which is characteristic of mito), a long road to diagnosis followed. Eventually, Pippa and her mum Rely both had muscle biopsies and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) a maternally inherited form of mito, was confirmed.

The family spent the next couple of years in and out of hospital, often staying for weeks or months at a time. Several times, Pippa was placed in an induced coma and on life support when the seizures became uncontrollable.

Pippa’s sister Toby was later tested and diagnosed with MELAS. Although she only experiences mild symptoms, Toby now faces her most difficult decision yet - whether or not to have her own biological children. As MELAS is maternally inherited, this could severely limit her child’s life.

Today, Rely lives with digestive and visual problems, severe migraines and lowered energy. Rely and Don are now Pippa’s full-time carers and live in hope that mitochondrial donation will one day allow Toby, and others in her situation, to have children free of mito.

Rhonda Murray with her two daughters

Rhonda

Rhonda was 32 years old when she learnt her family was living under the shadow of mito.

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Rhondas' Story

Rhonda Murray was 32 years old when she learnt her family was living under the shadow of mitochondrial disease (mito).

Rhonda’s brother Peter suffered a stroke-like episode when he was 34. This was the beginning of Peter's painful 11-year journey with mito, which effectively took over his body by denying it the energy it needed to function. It robbed him of his hearing, his balance, his coordination and his cognitive skills.

At just 45 years old, Pete lost his fight to mito, leaving behind two beautiful children; his 13-year-old son, and his 11-year-old daughter.

Rhonda’s mother then had her first stroke-like episode at 61 years old, followed by multiple hospital stays and several periods in a coma. Just two years after her brother died, Rhonda lost her mum to mito.

Rhonda has since been diagnosed with mito and suffers from hearing loss and fatigue. Her two daughters aged 18 and 20 also carry the genetic mutation that causes mito and whilst they are not currently symptomatic, they live every day not knowing what's around the corner. When her daughters are noticeably tired or sick, Rhonda fears the worst as she knows mito could strike at any time.

“I hear of so many sick babies with mitochondrial disease, with a very short life expectancy, and I just don’t want my daughters to go through that. With mitochondrial donation, there is a big chance my daughters will avoid that and we can eliminate this cruel defect from our family for good.” Rhonda said.

Pam Hausler

Pam

Pam was diagnosed with MELAS, a maternally inherited form of mito, in her mid-forties.

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Pam's Story

Pam was diagnosed with MELAS, a maternally inherited form of mito, in her mid-forties.

It has impacted her greatly throughout her life and today she struggles with balance issues, exercise intolerance. regulating body temperature and a constant lack of energy.

As an infant, Pam’s daughter Shayli was described as having a-typical cerebral palsy, a description often used before mitochondrial disease was recognised. She was never able to speak properly and relied on a wheelchair. At 14, Shayli had her first stroke-like episode and was in and out of the Adelaide Children’s Hospital over the following five years. She lost partial vision after one of the stroke-like episodes, had seizures for 12 days and went into a coma for a while.

Shayli eventually went blind and her hearing became so sensitive that she could not bear her favourite pop music or even her dog. She was tested for everything known at that time, but all tests came up blank. She was eventually diagnosed with MELAS at 19 and sadly died three weeks later.

Pam’s mother also died of mito, and her grandmother's sisters all died young as a result of the disease.

Mitochondrial disease has impacted many generations of Pam’s family and she sees mitochondrial donation as a necessary step to prevent other families enduring this devastating pain in future generations.

Pam said “if mitochondrial donation existed when I conceived my daughter then she would still be alive, and she would have had the opportunity to have disease-free children of her own.”

News and Updates

Links and Resources

Contact Your Local MP

Mitocohondrial Donation Resources

The Science Behind Mitochondrial Donation

The Health Economics of Mitochondrial Donation

The National Health and Medical Research Council (NHMRC)