CHOPS syndrome, a debilitating, inherited condition, has only ever been diagnosed in four people around the world including Australia. This rare condition presents with a unique cluster of symptoms. This can include intellectual disability, coarse facial features, congenital heart disease, obesity, chronic pulmonary disease, short stature, and skeletal dysplasia. The disorder’s name is actually an acronym for these unique markers.
In 2015, Leta Moseley gained international attention by becoming the first documented case of CHOPS syndrome. At only 18 years old, she received her diagnosis after previously being misdiagnosed with Cornelia de Lange syndrome. This misdiagnosis postponed her ability to receive important support and treatment for her condition. When Leta was diagnosed, her mother, Lainey Moseley, swung into action. She created CHOPS Syndrome Global to raise awareness for the disorder and to connect families impacted by CHOPS Syndrome.
In fact, only about 100 people have been diagnosed with the condition worldwide. Families and advocates have to navigate the murky waters of CHOPS, all while fighting for increased awareness, prompting further understanding of this rare syndrome.
The Journey of Discovery
CHOPS syndrome remained unidentified until 2015. Before that time, families like the Moseleys experienced isolation and confusion as they sought answers for their children’s unusual medical needs. Her story started with several visits before settling on a diagnosis and gathering necessary resources.
Lainey Moseley reflects on the experience, stating, “Because she was the first diagnosed in the world, I didn’t really have a choice.” Her resolve to fight for CHOPS families fueled her advocacy energy. By founding CHOPS Syndrome Global, her goal was establishing an international support network for those affected.
With the help of social media, Lainey found a community of mothers who were going through the same ordeal. Manuela Mallamaci, whose son Mario was diagnosed with the syndrome in 2022, established Fondazione CHOPS. This link inspired her fire to create a change. Mallamaci emphasized the importance of creating a community for families dealing with rare diseases:
“We are just a few people, but it is important to know other families.”
Personal Stories of Strength
One of the people diagnosed is Isla Steed, a 14-year-old girl who was diagnosed at 8. Her mom, Kylie Steed, wants people to know about Isla’s story — her vibrant spirit, her ongoing struggle with health. Isla has needed a feeding tube and even went through a full resuscitation with CPR at one time. Despite these struggles, Kylie describes her daughter as:
“She’s one of the happiest people I know.”
Kylie is appreciative of the encouragement around her, while understanding that few people truly know what their walk will be like. She expresses the difficulties faced by families like hers:
“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.”
This passion is shared by both Lainey and Manuela as they push for better education, understanding, and research into CHOPS syndrome.
Hope for the Future
Advocates are hopeful that progress in research will someday result in therapies that can help combat this syndrome, also known as CHOPS. As one of the top researchers investigating this untreatable genetic disorder, Dr. Kosuke Izumi is at the forefront of science addressing this important disease. His optimism aligns with the hopes expressed by Lainey Moseley, who asserts:
“In my lifetime, we will have a treatment for CHOPS syndrome.”
Lainey emphasizes that whether through repurposed drugs or innovative gene therapies, families affected by CHOPS deserve immediate treatment options for their children. Her optimism is representative of a larger sentiment in the community that continued study will begin producing real advancements.
Manuela Mallamaci echoes this sentiment. She acknowledges that their advocacy work is just beginning and emphasizes that meeting doctors and experts worldwide has been instrumental in pushing forward their mission:
“It was our starting point, meeting doctors and experts all over the world about this syndrome.”
Families impacted by CHOPS syndrome have a long road ahead, but their dedication is unwavering. One of their pride and joys is that they fight for and advocate to create awareness and find research to give better outcomes.
