Health and wellbeing

A chance at life for a 3 year old with a rare condition

By Greg Allen-Pretty
Photos contributed by Bess and David Ong

Three year old Jerry is a happy child, described by his mother as having “a really beautiful and sweet nature.”

That’s pretty special when you consider that the young fella from Sale also has a condition called SPG50.

“It’s a type of hereditary spastic paraplegia,” according to Jerry’s mother Bess, speaking in an interview for Gippsland Goodness, TRFM and Gippsland’s Gold.

SPG50 is extremely rare with only 60 cases in the world. The progressive condition means Jerry will soon lose his hard-won ability to crawl and to walk as spasticity takes over his limbs. He may never speak and his brain will continue to deteriorate.

“Jerry also has microcephaly where a baby’s head is much smaller than it should be,” said Bess, “and his corpus callosum, which is the bridge between the two hemispheres of the brain, is not properly formed.”

“That means Jerry is not really capable of advanced cognitive thinking. Most children with Jerry’s condition have seizures. They also have poor growth. So Jerry is quite small for his age. People think he’s a lot younger than he actually is.”

Jerry also has trouble with his leg muscles.

“Jerry needs a trolley to walk. He can’t stand up or walk without support and will lose that ability before he is ten years old.”

Jeans for Genes Day on 7 August may help provide Jerry with some help he needs. His family has launched a fundraiser, Jeans for Jerry.

“The money raised is going to a lab at the Children’s Medical Research Institute that specialises in gene therapy,” Bess said.

“Our ultimate goal for Jerry is to be part of a gene therapy clinical trial that could very well save his life.”

Jerry’s best hope is for research to unlock new treatments and cures, to give him and others the opportunity to live long and healthy lives.

Some good research is being achieved about SPG50 and other rare diseases by Dr Leszek Lisowski and his team at the Children’s Medical Research Institute in Sydney. See below the next photo if you’d like to know more.

Gippslanders are being encouraged to wear jeans on 7 August and donate a gold coin. Jerry’s family hopes people will place collection boxes at their workplace or school.

Covid-19 restrictions mean that some of the usual Jeans for Genes Day fundraising activities, where people gather for fun events, won’t be possible.

“We’re trying to think outside the box and maybe children at school could have a competition to design their own jeans or think of creative ways to wear denim,” Bess said.

“Perhaps someone could create denim masks and donate the proceeds to Jerry’s cause!”

All the details are at www.myjeansforgenes.org.au/jeans-for-jerry

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More below

FURTHER READING:
Researchers fighting to ensure children with the rarest diseases don’t fall through the cracks

From Children’s Medical Research Institute and Cupcake Communications

An Australian world-leading gene therapy expert believes the future of medicine is in personalised treatments for children with rare diseases who often “slip through the cracks’’.

Dr Leszek Lisowski is the Unit Head of the Translational Vectorology Research Unit and Manager of the Vector and Genome Engineering Facility at Children’s Medical Research Institute in Sydney. It is the only lab of its kind in Australia and one of the few in the world.

His work is highly technical, but his personal approach is led by the heart.

“What I’m trying to do is build individualised treatments for patients, for those children who have ultrarare conditions—this is where my heart lies.’’

It is work such as this that may help save the life of children such as three-year-old Jerry Ong, from Gippsland, in Victoria.

Jerry was born with an extremely rare condition known as SPG50 – associated hereditary spastic paraplegia – a mutation of the AP4M1 gene. The progressive condition means he will soon lose his hardwon ability to crawl and to walk as spasticity takes over his limbs. He may never speak, and his brain will continue to deteriorate.

Jerry’s parents, Bess and Dave Ong, hope gene therapy will reverse the progression and are fundraising for a clinical trial that might help save their son’s life.

“Dr Lisowski’s research focuses on gene-therapy technology, which could cure this insidious disease by halting the disease process and preventing the faulty gene from further damaging Jerry’s brain and body,” Ms Ong said.

“The research has turned up exciting results, and clinical trials are possible. But they’re expensive and health dollars are stretched, no more so than during an international pandemic. We have joined the effort to raise money to support this research. Every dollar counts.”

Dr Lisowski creates microscopic delivery vehicles, called vectors, which are key tools required for the successful applications of gene therapies. The vectors deliver gene therapeutics into patient’s cells affected by the disease. The therapy adds a working copy or replaces the faulty copy of a gene with a functional version.

Genome therapy aims to cure, not just treat, genetic disorders by correcting the mutations.

In the past, his work has been used for genetic diseases that impact the hematopoietic system or the liver, but now he is hoping to start a new project working to help young patients, such as Jerry.

“We will use a viral vector to deliver a functional copy of the SPG50 gene to the patient’s brain,’’ Dr Lisowski said. “We will make pre-clinical models, using organoids, and we are very fortunate because CMRI has the best organoid facility in Australia.’’

Organoids are mini organs that are grown in labs to test out therapies. The team at CMRI will use brain cells to test their therapy before trials can begin.

“While the knowledge and diagnostic power around genetic disease has grown exponentially, the progress in disease prevention and treatment has been slower. Gene therapy has the power to fill the gap that has formed and to bring real benefits to patients,” he said.

Gene therapies are relatively new additions to the healthcare toolbox but are already saving lives by curing previously incurable conditions.

“Infants who would otherwise have succumbed to devastating neurological disorders are now developing normally with the very real prospect of living full and healthy lives,” he said.

“This is an exciting and a very rewarding time to be a researcher in the area of gene therapy. We are hoping to be able to deliver this treatment to children within two years of starting the trials. It could even be faster.’’

While incredible work is being done around the world on truly devastating diseases, those with rarer conditions like Jerry are often forgotten.

Dr Lisowski wants to devote his work to helping families like Jerry’s.

“This condition is ultra-rare and most government or commercial funding would not go towards a condition like this; they often slip through the cracks. To help this family really aligns with my own personal values. We want to help people that aren’t being helped, to find those who are being
overlooked.’’

Children’s Medical Research Institute (CMRI) pioneered microsurgery, immunisations against lethal childhood illnesses, and care for premature babies, all of which has improved the lives of countless Australian children over the last 60 years.

Today, CMRI is an independent institute and the site of world-leading research in the areas of cancer, neurobiology, embryology, genomics and gene therapy. CMRI’s achievements are made possible by a network of devoted community supporters, as well as the iconic Jeans for Genes® campaign.

If you would like to support the work of Dr Lisowski, you can donate to a Jeans for Genes fundraising page set up by Jerry’s family to directly fund the work being done in Dr Lisowski’s lab.

Visit: www.myjeansforgenes.org.au/jeans-for-jerry

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