Levi Trowbridge was released just 3 days old and new from the maternity ward when she went into convulsions last year.
Varsha Trowbridge, a first-time mother, said she and her husband Steve Trowbridge were “shocked and confused” by their newborn’s unusual behavior.
“We just came home and as far as we knew, he was a perfect, healthy baby,” she said.
“We felt that he might have struggled to get air in the beginning.”
But when the family was visited the next day by a maternal-health nurse provided by the state of Victoria in their native Australia, Levi was again robbed by a seizure.
On the nurse’s instruction, her parents took her to the nearby Northern Hospital, Epping, “where she had another four that day,” said her mother, a 29-year-old child-care worker.
Despite being treated with several seizure medications, the levy did not improve.
“It was a terrible time, when your child has multiple seizures a day and many times, turns blue and holds his breath,” said Karsha.
Within a week, Levi was transferred to Melbourne’s Royal Children’s Hospital and a pediatrician and leader of the epilepsy team at the Murdoch Children’s Research Institute. Catherine was placed in Howell’s care.
The charitable organization was founded by the late Dame Elizabeth Murdoch, the founder and executive chairman of News Corp, Rupert Murdoch’s philanthropic mother and president of The Post.
Although Levi’s initial diagnosis was early infantile epileptic encephalopathy, he had other worrisome symptoms, in addition to his frequent seizures.
“He was floppy and lethargic and, for a time, needed support with breathing and feeding,” she said.
Howell arranged for Levi’s genomic testing to be “ultrarapid” through a study of critically ill children led by the Victoria Clinical Genetics Service, an assistant for the benefit of MCRI.
He said that Levi was recruited for that study and our results came five days later.
The test uncovered a very rare condition called KCNQ2 encephalopathy, which is associated with a mutation in a gene that regulates potassium in the brain.
With that information, Howell treated Levi with oxarbazepine, an anticonvulsant drug, and removed him from other drugs that did not work.
“Levi improved rapidly – Howell said that by the time he was 3 weeks old, many of his daily seizures had stopped.”
“He was more alert, dined well and was able to go home from the hospital.”
A little more than a year later, medical experts around the world now hope to learn from Levi’s experience – and that of other infants – to improve treatment for infants with epilepsy.
A new project – the International Precision Child Health Partnership or IPCHiP – will see four major pediatric centers on three continents join forces to analyze medical and genomic data to accelerate the development of new medical systems.
In addition to the Murdoch Children’s Research Institute, Royal Children’s Hospital and the University of Melbourne, participants include Boston Children’s Hospital, Sick Children’s Hospital in Toronto and UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital. in London.
MCRI director Professor Catherine North said the plan came out ahead of Sunday’s International Inspection of Rare Disease Day – in the works since 2019.
The initial effort of IPCHiP will focus on diagnosing epilepsy to 100 children before the age of 1 year.
After sorting their genomes and treating them accordingly, the children will be tracked and their results will be compared with those for which no genetic diagnosis can be made.
If successful, the project will eventually expand into a five-year study of 600 children.
“This would represent the largest possible recruitment-to-onset epileptic seizures for genetic studies to date,” North said.
“The program is also unique in that it will collect future clinical and developmental data compared to prior, according to large-cohort sequencing studies.”
“This will allow investigation of the impact and clinical utility of an accurate genetic diagnosis in this patient group.”
The goals of the project include providing individualized test results in less than two weeks, enabling “real-time” treatment decisions with increased rates of success.
With epilepsy, prompt action is particularly important because it can reduce brain damage and “improve outcomes for these critically ill children and their families,” North said.
MCRI was initially founded as the Murdoch Institute, promoted by the late Professor David Danks, a pediatrician, in 1962 by Elisabeth Murdoch, the late Dr. of Johns Hopkins University. To travel to the United States to study under Victor McKickick.
McKick is widely regarded as the founding father of medical genetics, having launched the first medical-genetics program and clinic at Johns Hopkins in 1957.
After returning to Australia in 1964, Danks started the country’s first genetic unit at the Royal Children’s Hospital, and in 1993, he was part of the research team that discovered the genetic cause of Mens syndrome.
The disorder, which affects infants and children, causes copper to build up in the intestines and kidneys, but starves the brain and other tissues of that important chemical element, resulting in growth and developmental disabilities that often occur. Causes death at age 3.
Elizabeth Murdoch – who co-founded MCRI with DCRs in 1986 – was a longtime beneficiary of the Royal Children’s Hospital who was interested in helping sick children when she was 16 and raising a child for her patients The number was recorded.
“When I was younger, conditions like polio and smallpox were major health issues,” she said before her death in 2012 at the age of 103.
“Now you hardly hear them thanks to tremendous progress in medical research.”
In the years since its inception, MCRI has raised an AU $ 172 million-a-year operation in charitable contributions, with more than 1,300 employees and approximately AU $ 18 million, according to the $ 2012 Annual Report.
The Murdoch family has also continued their involvement, with Rupert Murdoch’s elder son, News Corp co-chairman LaChalan Murdoch, and his wife, Sarah Murdoch, in a blue-sky research last year to pursue “blue-sky research” Funded AU for $ 5 million. Medicine and new stem cell technology.
Answer – who has led MCRI since 2013 – said plans are already in the works for a second IPCHiP project.
This would include complex cases involving neonatal and pediatric intensive care units in critically ill children, particularly “those who have unexplained severe muscle weakness that can be caused by a wide range of genetic disorders,” she said. .
Rapid diagnosis of such diseases is important, he said, because targeted therapy “can be transformative for a child’s health” if the disease progresses.
Answer – Who was awarded the Companion of the Order of Australia, the country’s highest civilian honor for “eminent service for genomic medicine” in 2019 – he said that recent progress in the field was “rarely caring for children.” Rapidly changing health care for “was often inadvertently let go.”
“In the past, we could give families with affected children a clinical description – a label – but we could not pinpoint the cause or define what was actually wrong,” she said.
“We are now getting answers for 40 to 50 percent of children in clinically important timeframes, and importantly, we are in a very good position to tailor therapy in the right way, to the right child at the right time Giving the right medicine. “
In Levy’s case, getting his test results in just a few days, rather than months, made all the difference, Drs. Howell said.
“The rapid test levy provided a glimpse of the potential benefits of rapid testing and diagnosis,” she said.
“We hope that our study of rapid genomic testing in early-onset epilepsy will show that it allows infants to be treated more accurately and improves their seizure and developmental outcomes.”
Meanwhile, Levi – who celebrated her first birthday on January 14 – has been seizure-free since two episodes when she was 6 weeks old, Howell said.
“The levy has some developmental delays, but is making solid progress,” she said.
“He can sit, he picks up toys, he can babble, he is very interested in his surroundings and just lights up when he sees his parents’ faces.”
Howell said, “We don’t know for sure that Levi’s development is better than if the seizures were continuing, but that happens – and I hope I’ll continue a much longer military course than I predicted going forward.” . “
Levi’s mother stated that neither she nor her husband have a family history of epilepsy and their own genetic testing showed that Levi had not inherited his status.
Varsha also said that she and Steve understand that KCNQ2 encephalopathy is “a lifelong prognosis,” adding, “We are focusing on seizure management, while providing professional help for any developmental delay in lifelong.” Can scaffold skills.
“Levi is a happy and healthy boy, a flexible and willing learner, reaching his milestones one at a time with the help of occupational therapy and physiotherapy on a regular basis.”