Personal
Stories

content-bg

Arianna's story: a rare disease journey

Arianna (Ari) was born with medical and developmental concerns, and spent her first seven weeks of life in a neonatal intensive care unit (NICU). Following extensive testing, doctors suspected Sotos syndrome: a rare genetic disorder affecting 1 in 14,000 people, characterised by distinctive facial features, overgrowth in childhood, and learning and physical developmental delays. Despite these challenges, Ari has shown remarkable resilience, and her family are full of  hope for her future.

Ari’s early months were a worrying time for her family. Following her stay in NICU, Ari underwent a barrage of tests, but doctors were still unable to find a correct diagnosis. Ari’s parents, Heather and Alberto, spent their days driving from one appointment to the next to explore her range of symptoms. As months went on, Ari was hospitalised several times with severe respiratory illness, exacerbated by low muscle tone and an inability to cough effectively. Ari’s development was delayed, and she experienced sleep apnea and hyperinsulinism. At just 8 months old, Ari survived emergency surgery to treat accumulated liquid around her heart. Ari’s parents were overwhelmed by her need for 24/7 care, frustrated by the continuing mystery surrounding her condition, and concerned that her sister Erica was not receiving the attention she deserved.

 

 

Heather first became aware of The Infants’ Home (TIH) when she met Vinsensia (Vin) Christanto, director of Murray House, at a fundraising event with our charity partner Westfield Burwood. Heather worried that Ari’s additional needs (for example, being tubefed) would prevent her from participating in childcare, and Vin explained that The Infants' Home provides childcare as well as a range of early intervention and health support services to children with additional needs. During the intake and orientation process, The Infants' Home staff worked collaboratively to develop a family support plan to manage Ari’s needs. For example, our occupational therapist, Justine, designed supportive seating for Ari with a custom-made footplate and padding (her low muscle tone leads to fatigue when supporting herself for long periods); and The Infants' Home’s Early Childhood Health Consultant, Meryl Burn, worked with the allied health team and Murray House educators to ensure that her needs would be met.

Arianna joined Murray House early this year, and has not looked back. Her focus educator, Yi, has trained the team in Ari’s tube-feeding routine. At 1 year old, Ari’s condition remains undiagnosed, and she receives multiple therapies each week. Despite these complexities, Ari’s family are looking forward with positivity and strength, ready to deal with whatever the future holds. Ari is now sitting up by herself, and even preparing to crawl. Heather is excited that Ari is receiving the support she needs and is able to be with other children, and looks forward to spending more time with Erica and having the opportunity to go back to part-time work.

How You Can Help

You can help ensure the continuation of our programs for vulnerable children and families by donating here or calling 02 9799 4844. All donations over $2 are tax deductible. You support will be greatly appreciated.

 

site by Still Moving Design