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Little Lily is one in a million

7 year-old Lily Fretwell may be the size of a 3 year-old, but she isn’t letting a rare genetic condition that has resulted in her small stature stop her from achieving her goals.

Lily was recently diagnosed with trichohepatoentric syndrome, an extremely rare genetic condition that affects growth, liver function, immune system and intestines, and can also cause skin spots and brittle hair. She is one of three Australians with this diagnosis and one of only 45 worldwide.

Lily’s diagnosis is the first made by Western Australia’s Undiagnosed Disease Program, an Australian first project. It marks the end of 7 years of invasive tests, hospital stays and stress for Lily and her parents, Adrian and Dorota, whilst they battled to find an explanation for her unusual health problems and small size.

“Lily was tiny from seven weeks into my pregnancy and had to be tube-fed for the first few years, and had lots of infections, but we never knew why,” Dorota said.

“We got used to lots of results which said ‘negative’ or ‘inconclusive’.

Lily’s Speech Pathologist, Niamh Fitzmaurice, is hopeful that the diagnosis is a sign of happier times ahead for Lily and her family.

“A diagnosis will hopefully mean better monitoring of Lily’s health, less time in hospital and more time enjoying life at school and home,” Niamh said.

And it would seem Lily is doing just that, having recently competed in her school’s 800m cross country challenge and receiving recognition through a school award for her willingness to try new things and help her peers.

“While she may be very small, her health is relatively OK now and she’s doing really well at school in Year 2,” Dorota said.

Having set goals that focus on developing independence in daily activities such as play, mealtimes and self-care, Lily and her family are now working with Niamh and a broader therapy team to develop her strength, oromotor and fine motor skills.

“With practice, discipline and help from her family and little sister Indi, Lily has already developed her core strength, which will really help support her digestive muscles,” Niamh said.

“She now eats solid foods after being tube fed for the first few years of her life, and is managing zips and buttons independently when she gets dressed. She’s a hard worker and very determined to achieve her goals and I’m really looking forward to next stage with this little one in a million!”

Lily

Pictured L-R: Lily Fretwell, 7, with her sister Indigo, 2.