Families impacted by rare genetic conditions have found tremendous hope in this bipartisan Act. This monumental advance stems from pioneering research at Britain’s Newcastle University and Australia’s Monash University. This pioneering research aims to develop therapies that would eliminate genetic disorders that currently afflict children. Parents like Ash Greenhalgh, whose daughter Lily has suffered through unimaginable trauma since birth, now have new hope.
Lily was born five weeks premature, having beaten the odds in all ways by surviving an extremely rare genetic condition. She was otherwise healthy at birth, despite being very small. Her health went abruptly downhill when she started having absent seizures at only seven weeks of age. In addition to frequent staring spells, these episodes caused Lily to stop breathing, resulting in two cardiac arrests. As Mills’ condition deteriorated, doctors began telling her family they were out of options. Ultimately, they decided to take her home in the most heartbreaking choice imaginable.
In reality, despite her horrible prognosis, Lily shocked everyone by flourishing for six amazing months. Her mom, Ash Greenhalgh, looks back on this period with equal parts grief and thankfulness. She carries the emotional burden of seeing her daughter in pain every day. Yet at the same time, she values the scientific progress that might save other families from the pain she’s experienced.
“I cried. I cried. Obviously it’s not something that’s happening any time soon, but it means the world… I have a lot of gratitude for Monash, I have a lot of gratitude for the researchers who have put in so many countless hours into the research into doing what was the right thing and helping the community. Because it is genuinely going to make a lot of difference for a lot of people.” – Ash Greenhalgh
Ash Greenhalgh, who has formed a strong bond with Lily. Along with this, she endures the effects of Leber Hereditary Optic Neuropathy (LHON), a genetic disorder that affects her eyesight. This deeply personal experience has provided Michaela with unique insight into the challenges of invisible illnesses. She remembers the challenges she experienced as a child living with LHON—how her experience was often misinterpreted by other people.
“Leading on from my vision loss when I was a child and kind of growing into my teenage years… it was an illness and a disorder with my eyes that was not visible to the people around me. It was internal, which made it very difficult for people to support me and understand.” – Ash Greenhalgh
Frontline scientists are addressing intractable mitochondrial diseases that are the source of devastating health impacts in children. Robin Lovell-Badge, Head of Stem Cell Biology and Developmental Genetics at The Francis Crick Institute. Here, Anthony captures the vital role mitochondria play in all of our human cells. Mitochondria are the cells’ energy-producing factories and they have their own DNA. Mutations in this so-called junk DNA can lead to numerous debilitating diseases. These diseases primarily impact energy-intensive tissues such as the brain and skeletal muscles.
“Mitochondria are these little energy-producing factories, if you like, which all our cells contain. They have their own DNA, and if that DNA carries a mutation, or is a pathogenic variant, it can cause a whole range of different types of disease according to specific mutation, but these are all a nasty set of diseases where children can suffer a lot and die.” – Robin Lovell-Badge
Creative and pioneering work that is now underway includes research like pronuclear transfer, which removes unhealthy mitochondria in eggs and replaces them with healthy mitochondria. This natural process exchanges nuclear genetic material between closely related species. It requires a donor egg to remove faulty mitochondria. Lovell-Badge discusses this exciting development further, underlining its potential to change the lives of children impacted by mitochondrial diseases.
“What’s happened in this case is that they’ve used a technique called pronuclear transfer which effectively replaces the bad mitochondria with good mitochondria.” – Robin Lovell-Badge
Scientists are looking for groundbreaking ways to do so. Families like Ash Greenhalgh’s are pinning their hopes on a day when they don’t have to rely on luck to effectively prevent serious genetic diseases. No doubt, the journey ahead is a difficult one. Miracles made possible by improvements in medical science provide hope to millions still battling the disease.
