{"id":903259,"date":"2026-11-02T13:42:14","date_gmt":"2026-11-02T13:42:14","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/903259\/"},"modified":"2026-11-02T13:42:14","modified_gmt":"2026-11-02T13:42:14","slug":"two-mothers-lost-four-children-to-the-same-rare-genetic-condition","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/903259\/","title":{"rendered":"Two Mothers Lost Four Children To The Same Rare Genetic Condition"},"content":{"rendered":"

Trigger Warning: This story discusses the sudden deaths of children, child loss and grief. Some details may be distressing to readers. Please take care when reading.<\/p>\n

They were four happy, healthy children whose lives ended suddenly, leaving two families devastated and desperate for answers. Now, in an emotional conversation with marie claire, Danielle Lilley and Melissa Carlton reveal how a rare genetic condition claimed the lives of two children in each of their families \u2013 and why they\u2019re fighting to ensure other parents don\u2019t face the same unimaginable heartbreak.<\/p>\n

When Danielle Lilley and Melissa Carlton joined me for an episode of marie claire\u2018s You\u2019re Gonna Want To Hear This podcast, I knew their stories would be heartbreaking. Both women had lost two children to a rare genetic condition they didn\u2019t know existed. What I wasn\u2019t prepared for was the extraordinary strength, anger and determination behind their stories, or how a single genetic test might have changed the course of their families\u2019 lives.<\/p>\n

For Melissa, a mother of four from Canada, everything changed in April 2024. Her nine-year-old daughter Abby was a happy, healthy little girl who loved her friends and family. The night before she died, she\u2019d been playing outside with her neighbourhood friends. \u201cI remember I was pulling out of the driveway because I had a meeting to go to, and I looked back and saw her at the front of my house with all of her friends, and she was so happy,\u201d Melissa recalls. \u201cI love that last memory of seeing her in her element with all of her friends.\u201d<\/p>\n

Just hours later, Abby woke complaining of a stomach ache and climbed into bed beside her parents. It seemed like an ordinary childhood illness. But sometime that morning, Abby died in her sleep. Paramedics spent approximately two and a half hours trying to revive her. An autopsy later attributed her death to sepsis, although Melissa struggled to understand how her seemingly healthy daughter could have deteriorated so suddenly.<\/p>\n

Twenty months later, on Christmas morning, tragedy struck again. The family was visiting relatives in the United States when five-year-old Molly woke with a stomach ache. \u201cWe just assumed she was going to get what they had had,\u201d Melissa explains, referring to a gastrointestinal illness circulating among relatives. Molly fell back asleep beside her mother, but when she woke again at approximately 7am, she collapsed and went into cardiac arrest.<\/p>\n

Despite being rushed to a specialist hospital, Molly suffered three cardiac arrests and could not be saved. \u201cWe had hope that she would come back,\u201d Melissa tells me. \u201cI thought she was going to wake up and tell me she\u2019d seen her sister or something. I was just holding onto this hope that everything was going to be okay. This was not going to happen to us a second time.\u201d<\/p>\n

That Christmas Day, Melissa and her husband Tom returned to their two surviving children, Lily and Harry, and had to tell them they\u2019d lost another sister. \u201cWe went back home and sat there in shock, and they wanted to open presents, so we let them, and it was just surreal.\u201d<\/p>\n

On the other side of the world, Perth mother Danielle Lilley had experienced an almost identical nightmare. In 2021, she welcomed her first child, Sonny, a happy little boy with bright blue eyes and blonde hair who loved swimming lessons and making his mother laugh. At nine months old, he developed mild gastro symptoms. Concerned about dehydration, Danielle took him to hospital. Within minutes, his breathing changed and he went into cardiac arrest. Doctors initially revived him, but he suffered another cardiac arrest during his transfer to a children\u2019s hospital.<\/p>\n

\u201cI remember pleading with them, going, \u2018No, show me what to do, show me what to do. I\u2019ll do it,’\u201d Danielle recalls of the moment doctors told her they couldn\u2019t save Sonny. \u201cNine-month-old babies don\u2019t just die, you know? I remember googling and searching and trying to analyse everything. What did I miss? You have that very big mum guilt, because you feel like you\u2019re the mum. You\u2019re there to protect them.\u201d<\/p>\n

For years, Danielle had no explanation. She asked about genetic testing but says she was repeatedly reassured that Sonny\u2019s death was simply an incredibly unfortunate event. When she became pregnant again, she was told genetic testing was expensive and unnecessary without a family history.<\/p>\n

Her daughter Airlie arrived in November 2022. Danielle called her their \u201clittle heart healer\u201d. But at five months old, Airlie developed gastro symptoms and suffered a cardiac arrest. This time, doctors urgently ordered genetic testing. The results revealed a rare inherited condition involving the PPA2 gene. Testing of Sonny\u2019s stored samples subsequently confirmed that he had the same condition.<\/p>\n

PPA2-related disease affects the body\u2019s ability to produce energy, particularly in the heart. Illness can place additional demands on the body, potentially triggering a sudden and catastrophic cardiac event. Although the diagnosis finally provided answers, there was no cure.<\/p>\n

Airlie survived her first cardiac arrest and lived for another 12 months. Danielle became intensely vigilant, avoiding crowded shops, monitoring potential exposure to illness and working closely with specialists on an emergency care plan. But at 18 months old, Airlie contracted gastro again, deteriorated rapidly and went into cardiac arrest. Despite prolonged resuscitation efforts, she died.<\/p>\n

\u201cShe was such a vibrant, happy little girl, very social, and you couldn\u2019t control her. She was the boss,\u201d Danielle tells me. \u201cWe ultimately just made the decision to stop the CPR and just keep our fond memories of her in that way.\u201d<\/p>\n

For both mothers, answers came only after losing their second child. Following Molly\u2019s death, the SUDC Foundation arranged and funded comprehensive genetic testing, which identified PPA2. Stored samples from Abby were then tested, confirming she too had the condition.<\/p>\n<\/p>\n

What followed was not only devastating grief, but anger.<\/p>\n

\u201cThe system failed me and my family,\u201d Melissa says. \u201cJust one genetic test is all they would\u2019ve needed when Abby died, and we would\u2019ve caught the disease and tested our whole family, and we would\u2019ve caught it in Molly, and we would\u2019ve had a care plan, and we\u2019d have had a proper shot at being able to care for her and give her the best chance.\u201d<\/p>\n

Danielle shares that frustration. \u201cWhy weren\u2019t we referred to genetic testing, and why isn\u2019t genetic testing a part of the autopsy process?\u201d she asks. \u201cI think a lot of people assume genetic testing is included, but it isn\u2019t, and it\u2019s up to the discretion of the forensic pathologist and the coroner.\u201d<\/p>\n

The women have now joined forces to advocate for earlier genetic screening, better investigation of unexplained childhood deaths and greater support for bereaved families. Through the Early Answers Foundation, they\u2019re calling for improved access to reproductive carrier screening, newborn screening and genetic testing following sudden unexplained deaths.<\/p>\n

Their mission extends beyond PPA2. \u201cWe have the technology,\u201d Melissa says. \u201cWe just don\u2019t use it, and that\u2019s what brought the rage. We could have known this.\u201d<\/p>\n

But beyond the science and advocacy is something even more personal: the need to keep their children\u2019s memories alive.<\/p>\n

For Melissa, grief sometimes arrives in the most ordinary moments. \u201cSometimes I\u2019ll find myself looking for Molly, because she was the youngest too. If we\u2019re out and about in a busy place, I\u2019m like, \u2018Where is she?\u2019 And then I just have this sinking feeling like she\u2019s not here.\u201d<\/p>\n

For Danielle, it\u2019s the absence of the daily rituals of motherhood. \u201cYou feel like you\u2019re leaving the house, but you\u2019re forgetting something. Because you\u2019re no longer packing prams, and getting car seats, and strapping kids in, because they\u2019re no longer there. But you\u2019re still like, \u2018I should be doing something.’\u201d<\/p>\n

Both women want people to know that talking about their children doesn\u2019t make the grief worse. In fact, it\u2019s the opposite. \u201cOur biggest fear is that people will forget them and won\u2019t talk about them,\u201d Melissa explains. \u201cPeople are worried that they\u2019re going to upset you, but we\u2019re already hurt. We\u2019re already upset. We\u2019re already in pain. But it\u2019s worse when people don\u2019t say something and don\u2019t acknowledge them.\u201d<\/p>\n

Danielle remembers Sonny\u2019s enormous smile, his funny squeaking laugh and his obsession with bubbles. Airlie, meanwhile, was cheeky and fiercely independent. \u201cShe was my heart healer, she was my little bestie. I think we would\u2019ve been partners in crime, for sure,\u201d she says.<\/p>\n

Melissa remembers Abby\u2019s kindness and the way she gave the best hugs. Molly was funny, affectionate and full of attitude. \u201cShe was, like, the funniest person I\u2019ve ever known,\u201d she says. \u201cThey just left huge holes, just massive holes in our lives, and so we just miss them every single day.\u201d<\/p>\n

Danielle is now undergoing IVF with genetic testing of embryos, hoping to have another child. It\u2019s an emotional and uncertain journey, but one she is grateful is possible.<\/p>\n

And when I ask what they most want people to take away from their stories, their message is clear. \u201cWe want earlier answers and we need everyone\u2019s stories,\u201d Melissa says. \u201cWe need everyone to come together. It\u2019s not just about PPA2 and one rare disease. It\u2019s about all of them.\u201d<\/p>\n

For Danielle, advocacy has become another way of mothering the two children she lost. \u201cThey\u2019re not here physically, but I\u2019m still Sonny and Airlie\u2019s mum. I still wake up every day and I\u2019m a mum even though physically I don\u2019t have them, and I still want to make my children proud.\u201d<\/p>\n

It\u2019s a sentiment I haven\u2019t stopped thinking about. These women aren\u2019t simply fighting for answers. They\u2019re fighting for the future of other families, while ensuring the lives of four extraordinary little children are never forgotten.<\/p>\n

Listen to Danielle Lilley and Melissa Carlton\u2019s full interview on marie claire\u2019s You\u2019re Gonna Want To Hear This podcast, available on your favourite podcast platform and the marie claire YouTube channel.<\/p>\n

This episode discusses child loss and grief. Support is available through Lifeline on 13 11 14 and Beyond Blue on 1300 22 4636.<\/p>\n

\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\t\"Georgie\t\t\t\t\t<\/a><\/p>\n

\t\t\t\t\t\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\tGeorgie McCourt\t\t\t\t\t<\/a><\/p>\n

\t\t\t\t\t\tEditor\t\t\t\t\t<\/p>\n

Georgie McCourt is the editor of marie claire. An editor, author, and founder with two decades in women\u2019s media, her career spans Sydney, London, and Dubai, shaped by a Media & Communications degree from the University of Sydney and time at the London College of Fashion. She\u2019s worked across top lifestyle titles and at beauty giant MECCA, before launching The Grace Tales – a digital platform celebrating modern motherhood. Georgie has published three books, most recently Best Laid Plans (2022), and continues to champion stories that speak to smart, stylish women around the world.<\/p>\n

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