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A Kiama family's journey: from diagnosis to advocacy for Cystic Fibrosis

The Bugle App

Donna Portland

05 July 2024, 9:00 PM

A Kiama family's journey: from diagnosis to advocacy for Cystic FibrosisMyla and her dog

The Sheaff family, locals of Kiama, are devoted to providing their six-year-old daughter, Myla, with a better life since her diagnosis with Cystic Fibrosis (CF). Kristen Sheaff, Myla's mother, has taken a significant step in this mission by becoming a NSW Community Ambassador for the Cure4 Cystic Fibrosis Foundation.

CF is the most common life-limiting genetic condition affecting Australians. According to Cystic Fibrosis Australia, over 3,730 Australians live with CF, and one in 25 people carry the recessive gene that causes the condition.

Myla was born on Boxing Day 2017, weighing just five pounds. "She was our third child. Ryan and I already had two beautiful, healthy boys, Reilly (20 months) and Lachlan (3 years). She was given a clean bill of health, and we took her home a couple of days later," Kristen Sheaff recalls.

However, Kristen soon noticed that Myla was different from her brothers. Despite having experience with two children, Myla's sleepless nights and frequent crying were alarming. It wasn't until she was two and a half years old that the family discovered the root of the problem.

Myla's sleep issues and failure to thrive, despite constant hunger, led Kristen and Ryan to consult Dr Keith Ooi, a gastroenterologist specialising in CF. A few weeks later, Dr Ooi diagnosed Myla with Cystic Fibrosis. The diagnosis was a mix of relief and devastation for the family, bringing clarity but also an uncertain future.

Myla in hospital

Individuals with CF require ongoing medical treatments and physiotherapy from birth. CF primarily affects the lungs and digestive system due to a malfunction in the exocrine system, which produces saliva, sweat, tears, and mucus. While there is no cure, advancements in treatment have significantly improved the quality of life for those with CF, allowing many to live well into adulthood.

Typically, CF is detected through the Guthrie heel prick test, which screens for the three most common genetic mutations of CF. However, with over 2,000 mutations causing CF, diagnosis can be challenging. Myla has two of the rarest mutations, with only a handful of people worldwide known to have her specific combination. "Ryan and I had no idea that we were carriers and knew very little about CF," Kristen reveals.

People with CF develop an abnormal amount of thick and sticky mucus in their lungs, airways, and digestive system. This impairs the digestive functions of the pancreas and traps bacteria in the lungs, leading to recurrent infections and irreversible damage.

Myla, now six years old, has endured a rigorous medical regimen, including multiple blood tests, two bronchoscopies, countless throat swabs, and the daily intake of around 20 tablets. This April, she was hospitalised for two weeks to receive IV antibiotics after a throat swab revealed dangerous bacteria. Throughout her hospital stay, Myla has faced numerous needles, and asked some difficult questions that her parents struggle to answer, feeling helpless in their inability to immediately find a cure for her.

Despite these challenges, Kristen is continually amazed by Myla's resilience and positive attitude towards her treatments. "She inspires me every day," Kristen says, marvelling at her daughter's strength and determination.

Determined to help her daughter, Kristen became involved with the Cure4 Cystic Fibrosis Foundation about a year after Myla's diagnosis. Established in 2009, Cure4CF is a registered not-for-profit charity focused on finding a cure for CF by funding promising medical research across the nation.

"Cure4CF’s goal is to see the research we support translated into clinical benefits. They prioritise projects with a clear translational path and researchers committed to bringing their innovations to patients," Kristen explains.

Since Cure4CF receives minimal financial support from the government, the Sheaff family is organising a fundraiser at the Kiama Surf Club on 9 November 2024 – so SAVE THE DATE. The event aims to raise funds to support research efforts towards finding a cure and advancing care for those affected by CF. Your support is needed and appreciated.

If you wish to make a donation, the fundraising page link is or use this QR code:

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