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Please support research into gene therapies conducted by the University of Sydney in association with Children's Medical Research Institute, with a preference for PGAP1 mutations.
Charlie and Mira are devoted parents who adore their two beautiful daughters – Mary (8) and Neveah (4). Mary and Neveah both live with a rare genetic disorder, ‘PGAP1 gene mutation’ – so rare, it doesn’t even have a proper name. To our knowledge, Mary and Neveah are the only two people diagnosed with this disorder in Australia, out of only a handful around the world. As a result of the rare and complex nature of the disorder, there is very little research being done into treatment and cure.
For years, the Taouk family have experienced the agony of witnessing their children’s suffering, without a diagnosis nor a cure. At last, the Taouk family have been given hope through ground-breaking research being conducted into a gene therapy solution for this debilitating disorder.
Please give generously to support research into gene therapies conducted by the University of Sydney in association with Children's Medical Research Institute, with a preference for PGAP1 mutations.
Lead researchers Dr Wendy Gold and Dr Leszek Lisowski will work with experts at the University of Sydney and Children’s Medical Research Institute, hoping to unlock a gene therapy solution for debilitating disorders, including PGAP1 mutations, which could help Mary and Neveah.
Read more about the Taouk family's story and the University's groundbreaking research.
Symptoms of PGAP1 gene mutation
Please make a donation today to support research into gene therapies conducted by the University of Sydney in association with Children's Medical Research Institute, with a preference for PGAP1 mutations.
All donations $2 and above are tax deductible. Thank you for your support.
Below is the Taouk Family’s story.
Story:
Mary was born at the end of 2011, our beautiful little angel. In her first few months she thrived – everything seemed fine, and she was hitting her milestones.
Around the 6-month mark, we started seeing issues. She couldn’t roll, sit, or babble, and she didn’t make eye contact. We expressed our concerns, but the doctors said to “wait and see” as some children were slower with milestone progression.
By the time she was 11 months old, there was no change. Our paediatrician was concerned, and requested an MRI, blood tests, metabolic testing, chromosome analysis (microarray), and a skeletal x-ray.
Mysteriously, all the tests came out clear. Doctors suspected a genetic disorder, but all tests were coming back negative.
Doctors from all over Sydney were telling us they’d never seen anything like this before. We were told we may never ever know what was wrong with Mary – that was the most frustrating thing.
By then she was struggling with feeding and having digestive issues. She began refusing food and water, and started losing weight. At 2 years old we had to put her on a tube for a few months as her sole source of nutrition, later reintroducing her to the bottle.
In addition, Mary suffered from sleep apnoea, averaging only 2-3 hours of sleep each night and crying the rest of the time. We saw sleep specialists, and even removed her tonsils at the doctors’ recommendation, but it didn’t really help.
We wanted a sibling for Mary, and the doctors said the worst case was a 25% chance of the same thing happening again – that because they didn’t know what was wrong with Mary, it could’ve been a one-off, or it could be a 1 in 4 chance.
We decided to take the risk, so that Mary would have a brother or sister to support her. When Mary was around 3 and a half years old, Neveah was born.
Neveah was perfectly fine at the start, developing well and meeting her milestones. Yet, like Mary, at 6-7 months old, she stopped and we saw the same signs appearing again. Due to “very bad luck” as the doctors described it, both our children had struck that 1 in 4 chance.
Neveah underwent the same tests – again with no results. She and Mary had identical symptoms.
Doctors agreed that Neveah and Mary probably shared a genetic condition, but once again we were told we may never know the cause.
Through the hospital, we were told about a new test that only a handful of families in Australia had access to – the opportunity for whole genome sequencing. It focussed on children with unknown genetic disorders.
Both girls did the test in early 2017. We were told there was a 30-40% chance of finding out exactly what was causing the genetic condition. We waited and waited – it took around 13-14 months for the result to come through.
In February 2019, we finally got a diagnosis – PGAP1 gene mutation. It was the worst day of our lives.
Because the condition was ultra-rare – there were fewer than 10 cases in the world – the geneticist said there was little to no information about it, and that meant there was no help or treatment for them. The girls were the first patients identified in Australia. The disorder didn’t even have a proper name because it’s so rare. Among genetic disorders of this type, it’s probably the rarest of the rare.
The geneticist said “it was just luck of the draw” that both girls had PGAP1, as they’d had a 75% chance of being normal, healthy children. No doctors in Australia knew about it, and no one could do anything to help them.
Our next thought was that we needed to find someone, somewhere in the world, who could help our children.
For the last 6 months, we’ve been searching the internet, contacting doctors from all four corners of the earth, asking if they’d heard about this mutation, if they knew anyone who had information, or if they could point us in the right direction. We must have written to at least 50 doctors.
Only three doctors knew what PGAP1 was. They were doing some early research, but they said there was no knowledge or treatment available because it was such a new and recently discovered condition.
In late September 2019, Mary was admitted to the ICU for her cluster seizures. We were so desperate and devastated. Seeking help for our girls, Charlie called up the metabolic disorder specialist at the hospital and was told she’d do everything she could.
A few days later, we got an email asking if she could introduce us to University of Sydney researcher Dr Wendy Gold, who specialises in ultra-rare disorders and works with experts in gene therapy. That same day, we got an email from Dr Gold.
When we made an appointment for a phone call with Dr Gold, we were anxious, not expecting any hope. We expected to hear “We can’t help.” Instead she said, “Have you heard of gene therapy? Would you consider doing some research to see if gene therapy could help your children – do you want to give it a go?” On paper, she said it looked like gene therapy could potentially provide a cure. Straight away, we said “Of course”.
At last we have hope, knowing there’s a chance.
The last 7-8 years have been hard, seeing your kids missing out on so much. There’s no quality of life – the hospital has been their second home. When the kids are well, they are generally happy and engaging, and like being outdoors. They love hydrotherapy, being weightless and using their muscles in the water.
To have that light at the end of the tunnel – it’s been life-changing to know that there’s a chance. We hope this research could provide hope to other families in the same situation.
Our family has already put together the money for University of Sydney researchers Dr Gold and Dr Lisowski to hire an experienced postdoctoral researcher, who will finally start the research our kids desperately need. They’ll investigate whether a gene therapy cure can be developed, and whether it might be successful.
Your gift will help support this research. From the bottom of our hearts, thank you so much.
Please give generously to support research into gene therapies conducted by the University of Sydney in association with Children's Medical Research Institute, with a preference for PGAP1 mutations.