PURA Foundation Australia
Welcome to the PURA Community
Receiving a PURA syndrome diagnosis can feel overwhelming. This page shares stories from families who have walked this path before you, offering reassurance, understanding, and practical insights from their lived experience.
These stories are here to remind you that you are not alone and that support, connection, and community are available as you begin your PURA journey.
Christian's Story
After an uneventful pregnancy, everything changed at 34 weeks when we found out our little boy had stopped growing. Christian was born at 38 weeks, and within a few hours of birth, he developed hypothermia and was extremely sleepy.
Christian spent three weeks in the special care nursery as he struggled with feeding. During this time, he began showing signs of twitching and was transferred to the Royal Children’s Hospital (RCH), where he underwent multiple tests, including an EEG and MRI. Thankfully, all results came back normal, and he was discharged at five weeks old.
By three months of age, we knew something wasn’t right. Christian was extremely floppy and had no neck control. We returned to RCH for further investigations, and while the specialists were searching for answers, Christian began weekly physiotherapy at four months old. At 14 months, we finally received Christian’s PURA diagnosis. While it was scary at first, it was also a relief to finally have a diagnosis and some answers.
Today, Christian attends weekly physiotherapy, occupational therapy, and speech therapy, and is supported by a large team of specialists. Christian can now sit independently, something I would not have imagined when he was four months old. He has very low muscle tone and fatigues easily, but he is an incredibly determined little boy.
Christian is now a happy four-year-old who loves the outdoors, his food, and upbeat music (especially techno!). We try to give Christian the best life possible and ensure he enjoys every opportunity that comes his way. It has been a long journey, but we are incredibly grateful for the support of the PURA Australia Foundation and the PURA community around us.
We may be rare, but together we are strong.
Jack's Story
After an uneventful pregnancy our precious boy Jack was born at full terml. Within hours of birth Jack’s health began to decline, he had low blood sugar, was floppy and was having myoclonic jerks. He was also unable to maintain his oxygen levels. As Jack was so unstable, we were transferred via PIPER ambulance to the Mercy Hospital where we spent the next 6 weeks of his life in NICU and Special Care.
During this time, Jack underwent a multitude of investigations, however everything came back normal. After 6 long weeks in hospital, we were discharged home with a floppy baby on oxygen, an apnoea monitor, and no answers. It was scary and overwhelming. We then began a life of hospital readmissions, further testing, specialists’ appointments, and therapy.
At 6 months of age Jack had made a little progress in his development and we were offered to do the full Exome Test which we chose to do. We were told it would take 4-6 months to get the results.
On Jack’s 1st birthday he started doing clusters of unusual head dropping movement accompanied with his eye rolling back in his head. I sent a video of this to his Neurologist, and we were asked to come in for an urgent EEG. The EEG revealed Infantile Spasms a severe and damaging form of epilepsy in infancy. This was terrifying and concerning as parents but fortunately with early treatment, he became seizure free. It was during this hospital admission that we received the diagnosis of PURA syndrome.
We were able to enjoy a few years seizure free, but we always knew that it was very likely that the seizures would return. But last year, the seizures came back, suddenly and with a vengeance. Once again, we were thrown into that world of uncertainty hospital visits, medication trials, sleepless nights, and constant fear.
Watching your child go through a seizure and being unable to stop it... It’s something no parent can ever get used to. After many weeks of trial and error, we finally found a medication that worked, and Jack’s seizures are currently under control. We know how lucky we are. So many PURA families are still searching for that same moment of relief.
Jack is now 6 years old. He is happy, healthy, and beautiful. He attends mainstream school with full support, has lots of friends and everyone who meets him adores him. He lives a wonderful life and lives life to the fullest. Jack’s smile lights up a room and he loves so deeply. I’m so proud to be his mum and feel so blessed that he is my son.
Lachlan's Story
When I found out we were having a second son we were overjoyed and could not wait to meet our little bundle of joy. I was so excited to be a mum again and most importantly giving my first child a best friend. Lachlan entered the world just before Christmas in 2021. He was beautiful and so precious with his thick brown hair and mysterious eyes. However, things became uncertain and progressing for the worst quite rapidly.
Lachlan’s oxygen saturations would fluctuate up and down but would go lower than normal. His temperature was low and he was not waking up which was very alarming. He was rushed off with the medical team where he was given respiratory support and remained in the NICU for a few days. Lachlan’s oxygen levels and overall condition was not improving so the doctors were planning to send him to Sydney.
At two days old the Newborn and Paediatric Emergency Transport Service (NETS) team transported Lachlan to Sydney where he stayed in the ICU for a week. He remained in the Sydney Children’s Hospital for four and a half months. Lachlan had numerous tests including MRI, EEG and ECG. Many blood tests were completed however, they all came back clear. Lachlan would sleep 24/7 and was very hard to wake. He would have a startled response when he did eventually wake up. He had weak muscle tone and required a nasogastric tube to be fed due to the severe sleepiness. We tried feeding Lachlan breast milk orally but it was evident he was having swallowing issues.
At five weeks old genetic testing unveiled a pathogenic mutation in the PURA gene. This condition is very rare and it is called PURA syndrome. We had to learn what we could about this condition to ensure a safe transition home eventually. We were so happy when we could bring him home but at the same time terrified as nasogastric tube feeding was so foreign. Lachlan was transferred back to our local hospital where he remained for a following six weeks and then was transitioned home at almost six months old with a nasogastric tube for feeds and respiratory support. Lachlan had surgery just after turning one where a PEG tube was inserted for ongoing feeding issues.
The therapy journey began not long after we brought Lachlan home. The therapies were hard and exhausting for not only Lachlan but myself included. Lachlan has some great therapists who have believed in him from the get go. We don’t know if Lachlan will walk or talk but, we are very hopeful for the future as he is already doing things that we were told he would never do. Lachlan is clapping on queue, sitting independently when he feels like it and smashing tummy time. He is quick to give you the side eye and has the cheekiest grin ever.
We are members of a Facebook Group with others all over the world who also have a loved one with PURA syndrome. These families have become our safety net and, in some sense, our “normal”. To this day, after being given a diagnosis, it is very difficult to believe that you may never hear the words “I love you” from your child’s mouth. Never experience the sticky fingers covering the furniture or the fact they may never be able to do the simple things we teach our children as they grow into independent young people.
We can be hopeful for the future as science advances and ongoing research continues. Lachlan is like a little warrior who never gives up. He is always smiling and has the most infectious laugh. He is our pride and joy. We love him to the moon and back.
Sarah's Story
When my daughter Sarah was born, I felt the pure joy and hope so many parents do. But within the first two days, something was terribly wrong. By the 36th hour, she was floppy, refusing to feed, turning blue and her temperature was dropping rapidly. Even though she was my first baby, I knew deep down that something was wrong and it was not supposed to be like this. We were rushed to the Special Care Nursery in Melbourne, and she was placed in a humidicrib. Even though she eventually stabilised, there was no clear reason for her condition. That moment marked the beginning of a long and exhausting ordeal.
Doctors told me Sarah had severe hypotonia, developmental delay, physical and intellectual disability. She had issues with her vision, and at 14 months began having seizures. They were terrifying. There were so many unknowns. So many blank faces. No one knew what Sarah's condition was. How do you treat the unknown?
For six and a half years, we went through countless tests and misdiagnoses. From genetic and metabolic disorders to spinal issues and even muscular dystrophy, every direction was explored. Bloods were sent overseas to New York, Atlanta, London and Switzerland. The waiting was agonising. Every report came back with more confusion or more disappointment. Another not this, another not that. Every result felt like another crushing blow. Finally Whole Exome Sequencing (WES) was made available and bloods were sent to the USA for testing. After 12 months results came back with 20 genes of interest but no conclusive answer.
Then came a breakthrough. A researcher attended a genetics conference and discovered families in the United Kingdom whose children had similar symptoms and also a change in their PURA gene. Combined with Sarah’s data, the evidence was strong. Changes in PURA could cause a neuro-developmental condition. After six long years of waiting, hoping and fearing, we finally received a condition: PURA syndrome. Sarah was the first Australian to be diagnosed with it.
Today Sarah is 18. She loves listening to music, shopping, visiting cafés and being in the garden. Her cognitive and physical challenges, and epilepsy remain. No two days are the same. Some days she seems like a typical teenager. Other days we face real difficulties. But she is here and her presence, her laughter, resilience and her determined spirit give me hope. Not only for her, but for every child and every family still without answers.
For families still living with uncertainty, I want them to know that a diagnosis is not the end. It is the beginning. A beginning of community, possibility and hope. A diagnosis can open doors, lead to personalised care, informed family planning and connection with people who truly understand.
Most importantly, a diagnosis brings direction and belonging. And sometimes that makes all the difference.
Torsten's Story
Torsten is our first child. Up until 36 weeks my pregnancy was uneventful. At a final check up, Torsten was breech, so we chose an elective c- section and booked in the date. Torsten was delivered in a Low Risk hospital with only midwives. He was born with an APGAR score of 7 and didn’t come out crying. In fact, I didn’t even know he was out until I asked.
After a few days in hospital care we noticed he was jittery and very sleepy, he also didn’t latch. The midwife tested his blood glucose and temperature and found he was hypoglycaemic and hypothermic. He was transferred via PIPER to a Special Care Unit. It took paramedics 11 attempts to get a cannula into his “wiggly veins” and as a last resort were successful with a popliteal cannula (behind the knee). He was put through a multitude of tests including lumbar punctures and MRIs. All results came back normal.
Torsten was deemed a “floppy baby” and was put on a long course of antibiotics in case it was Meningitis. After 2 weeks of continuous monitoring, regular testing and no answers, we were discharged. Torsten was later diagnosed with Craniosynistosis (reconstructed at 15 months) and Neutropenia. Neither were considered a link to his low tone.
All of this began at the same time COVID had arrived in Australia. Navigating home life was tricky without the watchful eye of hospital staff. Due to COVID lockdowns, we couldn’t attend Maternal Health Nurse appointments or have help from our family.
We began seeing Allied Health Professionals (physiotherapy and speech pathology). Thankfully, they were considered “essential” and they could see us in person. Torsten sat independently at 12 months, crawled, and rolled over at 2 years and took his first steps at 3 years old. He remains non-verbal although says some words such as “Yeah” and “No”. Torsten was diagnosed with PURA syndrome at age 3.
Whilst this was an answer to some of our questions, it did not change our treatment plan. It did, however, introduce us to the PURA community where we have had the privilege of meeting other families travelling a similar road. Torsten continues to see allied health on a regular basis and will begin his Foundation year at a Special School in 2026.
William's Story
Our William arrived in this world on the 22nd September 2011 in Brisbane. He was delivered via a ventose as well as being two weeks late. When delivered, he had a little bleed on the brain and weighed only 3756 grams. A few hours after giving birth, I woke to find my baby down in special care for reasons unknown. All I was told was that he wasn't feeding, and he was extremely floppy.
Unbeknown to us, this was the start of our PURA journey. William spent the first three weeks of his life in special care having copious blood tests, MRI of his brain, tests for Prader Willi, Spina Bifida as well as being fed by a nasal gastric tube. Throughout this time, I tried keep calm, but the questions and testing from numerous doctors and their associates made this difficult. This experience for a first-time mother caused a lot of guilt, blame, anxiety, and trauma as I didn’t know what was wrong with my baby. The doctors didn’t know either.
During the early years of William’s life, we had constant trips to the hospital for physio and OT sessions as well as check-ups for hours at a time. Physios used standing and walking frames as well as parallel bars to strengthen his legs. We were still having blood tests and neurology appointments to start the search for his low tone. At this time, they found the myelination (grey matter) in his brain was slow to develop. Typical baby milestones were extremely delayed. It took William to the age of 5 to be able to walk. At this time, he was still hand fed and in continence aids.
Moving through the years, William has had all types of splints such as second skins and different types of AFOs to help support his muscles. He had ophthalmology appointments and ongoing hospital visits. His blood had been sent to Labs across different parts of the world, with DNA to be tested to try and diagnose William. Yet, after years we still had no diagnosis. I remember a Dr saying to me “Medicine isn’t advanced enough yet to know what William has”.
When William was 8, we got a phone call from the Dr saying he has “PURA syndrome”. I was pleased and relieved to know that they had finally found something, but I had no idea what PURA syndrome actually was. The Doctor at the time didn’t either. He said it was extremely rare. William is now 14 and his life has been filled with appointments to hospitals, Physio, OT and speech therapy sessions. This year he has recently been diagnosed with epilepsy. The absence events he was having previously have now turned into something so much more.
The tide has turned for us. 10 years ago my family was alone with PURA, but today we celebrate the fact that we are now part of the PURA Foundation Australia and we have found William’s people. William is happy. He loves buses, bubbles, gardening and absolutely loves his ice cream and handbags. He is a true inspiration for determination and resilience. William has taught me patience and a strength to fight for his voice to be heard, in a very busy and often loud world.