{"id":293553,"date":"2025-10-11T02:47:17","date_gmt":"2025-10-11T02:47:17","guid":{"rendered":"https:\/\/www.europesays.com\/us\/293553\/"},"modified":"2025-10-11T02:47:17","modified_gmt":"2025-10-11T02:47:17","slug":"only-four-people-in-australia-have-been-diagnosed-with-rare-genetic-disease-chops","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/293553\/","title":{"rendered":"Only four people in Australia have been diagnosed with rare genetic disease CHOPS"},"content":{"rendered":"

Isla Steed is your fairly typical teenager, according to her mum.<\/p>\n

The 14-year-old is “a stubborn little person” who loves technology and food, Kylie Steed says.<\/p>\n

And she has a favourite word \u2014 “no”.<\/p>\n

But what sets Isla apart from her peers is something she shares with just 34 other people in the world, and just three others in Australia.<\/p>\n

Her condition is so extremely rare, when she was born, it had not even been discovered yet.<\/p>\n

\"A<\/p>\n

Kylie Steed says her daughter Isla is the happiest person she knows. (ABC Eyre Peninsula: Duncan Bailey)<\/p>\n

It is known by its acronym CHOPS,\u00a0which stands for its signs and symptoms: cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; and short stature and skeletal abnormalities.<\/p>\n

The condition was not identified by researchers until 2015.<\/p>\n

It would take another four years for Isla to be diagnosed, at the age of eight, with the genetic disease.<\/p>\n

Up until then, doctors had mistakenly diagnosed her with Cornelia de Lange syndrome, another genetic condition with similar features.<\/p>\n

This is a common scenario for children who are later diagnosed with CHOPS, according to advocates for people with the disease.<\/p>\n

“When Isla was born, she was quite unhealthy,” Isla’s mum said.<\/p>\n

“She weighed 1,500 grams [1.5 kilograms] and spent the first 147 days in the Women’s and Children’s [Hospital in Adelaide].<\/p>\n

Isla required a feeding tube and, at one point, had to be resuscitated through CPR.<\/p>\n

“There was no way we would have been able to live here [Port Lincoln] and keep her alive,”<\/p><\/blockquote>\n

Ms Steed said.\"A<\/p>\n

Isla Steed was not diagnosed with CHOPS syndrome until she was eight years old. (Supplied: Kylie Steed)<\/p>\n

The family had to temporarily relocate to Adelaide during the early years of Isla’s life.\u00a0<\/p>\n

But eventually, when Isla was 11 years old, <\/strong>she was deemed well enough for the Steed family to return home to Port Lincoln on South Australia’s Eyre Peninsula.<\/p>\n

Despite their regional city being under pressure from the same resources and staffing shortfalls<\/a> as the public heath sector throughout regional and rural Australia<\/a>, Isla has access to a “full repertoire” of support services in Port Lincoln, Ms Steed said.<\/p>\n

While she still needs frequent check-ups, her condition is also far more stable now than when she was a child, her mum added.<\/p>\n

Connecting through CHOPS<\/p>\n

While Isla’s disease is rare, she’s not alone.<\/p>\n

Advocates across the globe have spent years trying to bring CHOPS syndrome into the spotlight and fundraise for research projects.<\/p>\n

In Palermo, Italy, astrophysicist Manuela Mallamaci described her son Mario’s diagnosis as “a nightmare” in 2023.<\/p>\n

“But me and my husband said, ‘OK, we need to do something, we cannot cry all the time,'” Ms Mallamaci said.<\/p>\n

\"A<\/p>\n

Manuela Mallamaci felt inspired to advocate for CHOPS syndrome after her son Mario’s diagnosis in 2023. (Supplied: Manuela Mallamaci)<\/p>\n

Unbeknown to her, across the ditch in the USA, there was a growing network of CHOPS families.<\/p>\n

Lainey Moseley, a journalist in Philadelphia, founded CHOPS Syndrome Global after her daughter Leta became the first in the world to be diagnosed with the disease in 2015.<\/p>\n

After the two mothers connected online, Ms Mallamaci realised she could use her research background to try to find scientific answers.<\/p>\n

She created Fondazione CHOPS, and began working alongside Ms Moseley’s foundation to fundraise for research projects and connect CHOPS families across the world.<\/p>\n

\"A<\/p>\n

Manuela Mallamaci says it is important to know other families affected by rare diseases. (Supplied: Manuela Mallamaci)<\/p>\n

“It was our starting point, meeting doctors and experts all over the world about this syndrome,” Ms Mallamaci said.<\/p>\n

“We are just a few people, but it is important to know other families.”<\/p>\n

Being a ‘rare disease parent’<\/p>\n

Lainey Moseley’s daughter Leta, now 28 years old, was the first in the world to receive the CHOPS syndrome diagnosis.<\/p>\n

But that didn’t come until 18 years after her birth.<\/p>\n

The intervening years were “incredibly isolating”, Ms Moseley said, via Zoom from Philadelphia.<\/p>\n

\"A<\/p>\n

Leta Moseley (left) was the first person in the world to be diagnosed with CHOPS syndrome.\u00a0 (Supplied: Lainey Moseley)<\/p>\n

“But we’re not unique, this is the story for thousands and thousands of families [with rare diseases] who are isolated and feeling like they’re all alone and forgotten.”<\/p><\/blockquote>\n

Ms Moseley felt she could not sit still after Leta was diagnosed, and spearheaded a campaign to bring CHOPS syndrome into the spotlight for the first time.<\/p>\n

It led to the creation of CHOPS Syndrome Global in 2019.<\/p>\n

“Because she was the first diagnosed in the world, I didn’t really have a choice,” Ms Moseley said.<\/p>\n

\"A<\/p>\n

It wasn’t until Leta Moseley was 18 years old that she was diagnosed with CHOPS syndrome. (Supplied: Lainey Moseley)<\/p>\n

“That’s what you do as a rare disease parent when you get a diagnosis and you don’t have a community.<\/p>\n

“You don’t have information about what the gene mutation is, and you can’t even call doctors or scientists because they don’t know either.”<\/p>\n

Change in instruction gene<\/p>\n

Before CHOPS had a name, Kosuke Izumi was studying a genetic anomaly alongside his former mentor, physician Ian Krantz, in the US.<\/p>\n

The research was centred on better understanding Cornelia de Lange syndrome and involved studying hundreds of children.<\/p>\n

Of that large number, Dr Izumi recalled three children standing out \u2014 and one of them was Leta Moseley.<\/p>\n

\"A<\/p>\n

Kosuke Izumi is one of the leading researchers into CHOPS syndrome. (Supplied: Kosuke Izumi)<\/p>\n

“We found three children with fairly similar medical problems but we thought they were a bit different with children from Cornelia de Lange syndrome,” Dr Izumi said.<\/p>\n

“This was around 2012 and we started thinking about whether these children may have a new genetic disorder.”<\/p>\n

Around that time, a breakthrough in genetic testing called exome sequencing became available.<\/p>\n

Dr Izumi said this allowed them to “spellcheck” genetic information in a comprehensive way.<\/p>\n

\"A<\/p>\n

Lainey Moseley believes a treatment for CHOPS syndrome will be found in her lifetime. (Supplied: Lainey Moseley)<\/p>\n

“To test our hypothesis, which is that these children have a new genetic diagnosis, we used this new approach,” he said.<\/p>\n

“We identified a change in a gene called AFF4 and named it CHOPS syndrome as an acronym for their medical problem.<\/p>\n

“Because this gene plays an important role in directing what kind of function the cell needs to do, as a consequence of dysfunction, children with CHOPS syndrome have many medical problems.”<\/p>\n

Need for more awareness<\/p>\n

Despite the odds against her, Isla’s disease has not stopped her from loving people and loving life.<\/p>\n

“She’s one of the happiest people I know,” Ms Steed said.<\/p>\n

Today, Isla is able to access most therapeutic services in Port Lincoln, but initially, a lack of awareness about the disease among the health sector made that challenging.<\/p>\n

\"A<\/p>\n

Isla Steed lives in Port Lincoln with her mum Kylie, her dad Matt and her brother, Harry. (ABC Eyre Peninsula: Duncan Bailey)<\/p>\n

“Therapy services have been tricky to find, we’ve been on lots of waitlists and finally have a full repertoire of speech [pathologists], occupational therapists and physios [physiotherapists],” Ms Steed said.<\/p>\n

“But no-one really knows much about it, so it can be really tricky.<\/p>\n

“In terms of having a kid with a disability it can be super complex; your entire life is different to everybody else’s and a lot of people don’t understand what you go through.”<\/p><\/blockquote>\n

\"A<\/p>\n

While Isla faces unique challenges in life, Kylie Steed says she loves people and life. (ABC Eyre Peninsula: Duncan Bailey)<\/p>\n

Ms Mallamaci and Ms Moseley have not lost hope a treatment can one day be found for CHOPS.<\/p>\n

“In my lifetime, we will have a treatment for CHOPS syndrome,” Ms Moseley said.<\/p>\n

“Whether it’s a repurposed drug or gene therapy<\/a> \u2026 we will have something to offer families and children who are born with CHOPS syndrome \u2014 an immediate treatment option for their child because that’s what they deserve.”<\/p>\n

Dr Izumi said he too was hopeful.<\/p>\n

“We are using a specialised cell called induced pluripotent stem cell, which can be generated from patient cells,” he said.<\/p>\n

“That can be differentiated into brain cells or muscle cells which the patient has symptoms on.<\/p>\n

“We’re trying to find a way to fix this abnormality, and have been using animal models to study what kind of drug could be useful.<\/p>\n

“I may be too optimistic but there should be a way to do something.”<\/p>\n","protected":false},"excerpt":{"rendered":"Isla Steed is your fairly typical teenager, according to her mum. The 14-year-old is “a stubborn little person”…\n","protected":false},"author":3,"featured_media":293554,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[150221,150216,150217,150215,150214,150223,150220,104416,150226,150225,150222,77492,815,210,150219,150218,3014,159,150224,67,132,68],"class_list":{"0":"post-293553","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-aff4","9":"tag-chops","10":"tag-chops-australia","11":"tag-chops-syndrome","12":"tag-chops-syndrome-global","13":"tag-cognitive-impairment-and-coarse-facial-features","14":"tag-cornelia-de-lange","15":"tag-cornelia-de-lange-syndrome","16":"tag-extremely-rare-diseases","17":"tag-extremely-rare-genetic-disorders","18":"tag-fondazione-chops","19":"tag-genetic-diseases","20":"tag-genetics","21":"tag-health","22":"tag-ian-krantz","23":"tag-kosuke-izumi","24":"tag-rare-diseases","25":"tag-science","26":"tag-short-stature-and-skeletal-abnormalities","27":"tag-united-states","28":"tag-unitedstates","29":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115353253242923019","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/293553","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=293553"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/293553\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/293554"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=293553"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=293553"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=293553"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}