Mitochondrial Donation

Mitchondrial Donation is an IVF technique with the potential to prevent mitochondrial disease in the next generation. Have your say.

You have until 29 November to make your voice heard during the public consultation period. It is vital that families affected by mito make a submission to help establish a strong case for the legalisation of mitochondrial donation. After reading the NHMRC Issues Paper*, we encourage you to prepare your responses to the ten questions and then input your answers in the online survey.

*The Mito Foundation has prepared a summarised version of the NHMRC Issues Paper, click here to download.

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 with 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, a public consultation is now open until 29 November 2019 to seek community views on the possible introduction of mitochondrial donation into Australian clinical practice.

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:

Shelley Beverley

Shelley

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

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.”

Beard-Family-2

The Beard Family

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

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 and daughters

Rhonda

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

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.

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.”

Have your say on the legalisation of mitochondrial donation by filling in a survey before 29 November.

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