{"id":189404,"date":"2021-02-26T08:00:10","date_gmt":"2021-02-26T05:00:10","guid":{"rendered":"https:\/\/en.buradabiliyorum.com\/how-a-global-epilepsy-initiative-is-helping-to-heal-children\/"},"modified":"2021-02-26T08:00:10","modified_gmt":"2021-02-26T05:00:10","slug":"how-a-global-epilepsy-initiative-is-helping-to-heal-children","status":"publish","type":"post","link":"https:\/\/buradabiliyorum.com\/en\/how-a-global-epilepsy-initiative-is-helping-to-heal-children\/","title":{"rendered":"#How a global epilepsy initiative is helping to heal children"},"content":{"rendered":"

“#How a global epilepsy initiative is helping to heal children<\/strong>”<\/p>\n

\n

Levi Trowbridge was just 3 days old and newly released from the maternity ward when he went into convulsions last year.<\/p>\n

Karsha Trowbridge \u2014 a first-time mom \u2014 said she and her husband, Steve Trowbridge, were \u201cshocked and confused\u201d by their newborn\u2019s unusual behavior.<\/p>\n

\u201cWe had just got home and as far as we knew, he was a perfect, healthy baby,\u201d she said.<\/p>\n

\u201cWe thought he may have just struggled to bring up wind at the start.\u201d<\/p>\n

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 racked by a seizure.<\/p>\n

At the nurse\u2019s direction, his parents rushed him to the nearby Northern Hospital Epping, \u201cwhere he had another four that day,\u201d said his mom, a 29-year-old child-care worker.<\/p>\n

Despite being treated with multiple anti-seizure drugs, Levi didn\u2019t get better.<\/p>\n

\u201cIt was a terrifying time, watching your baby have multiple seizures a day and, at times, turning blue and holding his breath,\u201d Karsha said.<\/p>\n

\n
\"Levi
At just a few days old, Levi Trowbridge was rushed back to the hospital with seizures.<\/figcaption><\/figure>\n<\/div>\n

Within a week, Levi was transferred to the Royal Children\u2019s Hospital in Melbourne and put under the care of Dr. Katherine Howell, a pediatric neurologist and the epilepsy team leader at the Murdoch Children\u2019s Research Institute.<\/p>\n

The charitable organization was co-founded by the late Dame Elisabeth Murdoch, the philanthropic mother of Rupert Murdoch, the founder and executive chairman of News<\/a> Corp and chairman of The Post.<\/p>\n

Although Levi\u2019s initial diagnosis was early infantile epileptic encephalopathy, he had other worrisome symptoms, in addition to his frequent seizures, Howell said.<\/p>\n

\n
\"Dr.
Dr. Katherine Howell was put in charge of Levi Trowbridge\u2019s care.<\/figcaption><\/figure>\n<\/div>\n

\u201cHe was floppy and lethargic and, for a time, needed support with his breathing and feeding,\u201d she said.<\/p>\n

Howell arranged \u201cultrarapid\u201d genomic testing of Levi through a study of critically ill children led by the MCRI\u2019s not-for-profit subsidiary, the Victoria Clinical Genetics Service.<\/p>\n

\u201cLevi was recruited to that study and we had a result five days later,\u201d she said.<\/p>\n

The testing uncovered a very rare condition known as KCNQ2 encephalopathy, which is linked to a mutation in the gene that regulates potassium in the brain.<\/p>\n

Armed with that information, Howell treated Levi with oxcarbazepine, an anticonvulsant medication, and weaned him off the other drugs that weren\u2019t working.<\/p>\n

\"The
The disease modeling facility at the Murdoch Children\u2019s Research Institute in Melbourne.<\/figcaption><\/figure>\n

\u201cLevi improved rapidly \u2014 his multiple daily seizures stopped by the time he was 3 weeks old,\u201d Howell said.<\/p>\n

\u201cHe was more alert, started to feed well and was able to go home from the hospital.\u201d<\/p>\n

Little more than a year later, medical experts around the world now hope to learn from Levi\u2019s experience \u2014 and those of other babies \u2014 to improve treatment for infants with epilepsy.<\/p>\n

\"Levi
Levi\u2019s initial diagnosis was early infantile epileptic encephalopathy, but within three weeks of treatment his multiple day seizures stopped.<\/figcaption><\/figure>\n

A new project \u2014 the International Precision Child Health Partnership, or IPCHiP \u2014 will see four major pediatric centers on three continents join forces to analyze medical and genomic data to speed up the development of new therapy regimens.<\/p>\n

In addition to the Murdoch Children\u2019s Research Institute, the Royal Children\u2019s Hospital and the University of Melbourne, the participants are the Boston Children\u2019s Hospital, the Hospital for Sick Children in Toronto and the UCL Great Ormond Street Institute for Child Health and the Great Ormond Street Hospital in London.<\/p>\n

\"Interior
The Murdoch Children\u2019s Research Institute in Melbourne is one of four pediatric treatment facilities working together to speed up the development of new therapy regimens.<\/figcaption><\/figure>\n

The plan \u2014 revealed here\u00a0ahead of Sunday\u2019s international observance of Rare Disease Day \u2014 has been in the works since 2019, said Professor Kathryn North, director of the MCRI.<\/p>\n

IPCHiP\u2019s initial effort will focus on 100 babies diagnosed with epilepsy before they turn 1.<\/p>\n

After sequencing their genomes and treating them accordingly, the children will be tracked and their outcomes compared with those of others for whom no genetic diagnosis can be made.<\/p>\n

\"Kathryn
Kathryn North, director of the Murdoch Children\u2019s Research Institute, said early treatment is especially important in patients with epilepsy.<\/figcaption>
Arsineh Houspian<\/span><\/figcaption><\/figure>\n

If successful, the project will eventually expand into a five-year study of 600 kids.<\/p>\n

\u201cThis will represent the largest prospectively recruited early-onset epilepsy cohort for genetic study to date,\u201d North said.<\/p>\n

The program \u201cis also unique in that it will gather prospective clinical and developmental data, unlike previous, large-cohort sequencing studies,\u201d she added.<\/p>\n

\u201cThis will allow the investigation of the impact and clinical utility of a precise genetic diagnosis in this patient group.\u201d<\/p>\n

\n
\"Levi
Levi Trowbridge was treated by doctors at the Murdoch Children\u2019s Research Institute.<\/figcaption><\/figure>\n<\/div>\n

The project\u2019s goals include providing individual test results in less than two weeks, thereby enabling \u201creal-time\u201d treatment decisions with increased rates of success.<\/p>\n

With epilepsy, quick action is especially important because it can minimize brain damage and \u201cimprove outcomes for these critically ill children and their families,\u201d North said.<\/p>\n

The MCRI was initially established as the Murdoch Institute by the late Professor David Danks, a pediatrician who in 1962 was encouraged by Elisabeth Murdoch to travel<\/a> to the United States to study under the late Dr. Victor McKusick of Johns Hopkins University.<\/p>\n

McKusick is widely considered the founding father of medical genetics, having launched the first medical-genetics program and clinic at Johns Hopkins in 1957.<\/p>\n

After returning to Australia in 1964, Danks started that country\u2019s first genetics unit at the Royal Children\u2019s Hospital, and in 1993, he was part of the research team that discovered the genetic cause of Menkes syndrome.<\/p>\n

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 vital chemical element, leading to stunted growth and developmental disabilities that often cause death by age 3.<\/p>\n

Elisabeth Murdoch \u2014 who co-founded the MCRI with Danks in 1986 \u2014 was a longtime benefactor of the Royal Children\u2019s Hospital whose interest in helping sick kids dated to when she was 16 and knitted a record number of baby singlets for its patients.<\/p>\n

\"The
The Royal Children\u2019s Hospital and Murdoch Children\u2019s Research Institute in Melbourne. <\/figcaption>
Martin Saunders Photography<\/span><\/figcaption><\/figure>\n

\u201cWhen I was young, conditions like polio and smallpox were the big health issues,\u201d she said before her death in 2012 at age 103.<\/p>\n

\u201cNow you hardly hear of them thanks to tremendous advances in medical research.\u201d<\/p>\n

In the years since its founding, the MCRI has grown into an AU$172 million-a-year operation, with more than 1,300 staffers and nearly AU$18 million in charitable contributions, according to its 2019 annual report.<\/p>\n

The Murdoch family has also continued its involvement, with Rupert Murdoch\u2019s eldest son, News Corp. co-chairman Lachlan Murdoch, and his wife, Sarah Murdoch, last year funding an AU$5 million endowment to pursue \u201cblue-sky research\u201d into precision genomic medicine and new stem-cell technology<\/a>.<\/p>\n

North \u2014 who has headed the MCRI since 2013 \u2014 said plans are already in the works for a second IPCHiP project.<\/p>\n

It would involve complex cases involving critically ill kids in neonatal and pediatric intensive-care units, particularly those \u201cwho have unexplained severe muscle weakness, which can be caused by a broad range of genetic disorders,\u201d she said.<\/p>\n

Rapid diagnoses of such ailments are critical, she added, because targeted therapies \u201ccan be transformative to the baby\u2019s health\u201d if implemented before the disease progresses.<\/p>\n

\"Karsha
Karsha Trowbridge said she was terrified when her newborn son Levi started having multiple seizures a day and his initial medication was not helping. <\/figcaption><\/figure>\n

North \u2014 who in 2019 was awarded the Companion of the Order of Australia, the country\u2019s highest civilian honor, for her \u201ceminent service to genomic medicine\u201d \u2014 said recent advances in the field were \u201crapidly transforming health care\u201d for children with rare syndromes that often go undiagnosed.<\/p>\n

\u201cIn the past, we could give families with affected children a clinical descript<\/a>ion \u2013 a label \u2013 but we couldn\u2019t pinpoint the cause or define exactly what was wrong,\u201d she said.<\/p>\n

\u201cNow we are obtaining answers for 40 to 50 percent of children in a clinically important time frame and, equally importantly, we are in a much better position to tailor therapy very precisely, giving the right medicine to the right child at the right time.\u201d<\/p>\n

In Levi\u2019s case, getting his test results in a matter of days, instead of months, made all the difference, Dr. Howell said.<\/p>\n

\u201cThe rapid testing Levi had provides a glimpse of the potential benefits of rapid testing and diagnosis,\u201d she said.<\/p>\n

\u201cWe hope that our study of rapid genomic testing in early-onset epilepsies will show that it allows us to treat infants more precisely and improve their seizure and developmental outcomes.\u201d<\/p>\n

\"Karsha
Karsha and Steve Trowbridge said their son Levi has been mostly free of seizures and his development is progressing.<\/figcaption><\/figure>\n

Meanwhile, Levi \u2014 who celebrated his first birthday on Jan. 14 \u2014 has been seizure-free since two episodes when he was 6 weeks old, Howell said.<\/p>\n

\u201cLevi has some developmental delays but is making solid forward progress,\u201d she said.<\/p>\n

\u201cHe can sit, he picks up toys, he can babble, he\u2019s very interested in his surroundings and just lights up when he sees his parents\u2019 faces.\u201d<\/p>\n

Howell added, \u201cWe don\u2019t know for sure that Levi\u2019s development is better than it would have been if seizures were ongoing, but he has had \u2014 and I expect will continue to have \u2014 a much milder course than I initially predicted.\u201d<\/p>\n

Levi\u2019s mom said that neither she nor her husband has a family history of epilepsy and that their own genetic testing showed that Levi didn\u2019t inherit his condition.<\/p>\n

Karsha also said she and Steve understand that KCNQ2 encephalopathy is \u201ca lifelong prognosis,\u201d adding, \u201cWe are concentrating on seizure management whilst also scaffolding lifelong skills with professional help with any developmental delay that may arise.<\/p>\n

\u201cLevi is a happy and healthy boy who is a resilient and willing learner, reaching his milestones one step at a time with the assistance of occupational therapy and physiotherapy on a regular basis.\u201d\n <\/p><\/div>\n

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Source<\/a><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

“#How a global epilepsy initiative is helping to heal children” Levi Trowbridge was just 3 days old and newly released from the maternity ward when he went into convulsions last year. Karsha Trowbridge \u2014 a first-time mom \u2014 said she and her husband, Steve Trowbridge, were \u201cshocked and confused\u201d by their newborn\u2019s unusual behavior. \u201cWe…<\/p>\n","protected":false},"author":1,"featured_media":189405,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"fifu_image_url":"https:\/\/nypost.com\/wp-content\/uploads\/sites\/2\/2021\/02\/mcri-melbourne-09.jpg?quality=90&strip=all&w=1200","fifu_image_alt":"","footnotes":""},"categories":[70897],"tags":[95308,20358,95306,73461,83108,95307],"class_list":["post-189404","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","tag-2-26-21","tag-australia","tag-childhood","tag-diseases","tag-epilepsy","tag-rupert-murdoch"],"_links":{"self":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts\/189404","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/comments?post=189404"}],"version-history":[{"count":0,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/posts\/189404\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/media\/189405"}],"wp:attachment":[{"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/media?parent=189404"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/categories?post=189404"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/buradabiliyorum.com\/en\/wp-json\/wp\/v2\/tags?post=189404"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}