Evie from Walloon was only a week old when she was first admitted to hospital with feeding and stomach troubles – and she has spent more than half her life as an inpatient due to a rare genetic condition diagnosed when she was two.
“As a mum of three, I knew having a newborn was no walk in the park – but Evelyn was screaming for over 18 hours a day, vomiting, refusing to feed, always seemed to be in pain, and had a big hard belly”, Amy said.
Amy took Evie to her local hospital frequently visit her first 12 months but despite receiving nutrition via a feeding tube, her health continued to decline.
After being transferred to the Queensland Children’s Hospital at 16 months, Evie was placed on total parenteral nutrition (TPN), because her intestines were failing.
“After a very rough few weeks, Evie thrived on the TPN, and after three full months in hospital, we were able to bring her home TPN free.
When Evie was two, she was diagnosed with an FLNA gene mutation, which is now the known cause for several of Evie’s health concerns.”
In Evie’s case, the FLNA gene mutation presents as intestinal obstruction, so the gut becomes paralysed, unable to push food or fluid through, rendering it unable to absorb any nutrients.
“It is also assumed that Evie’s metabolic issues (like her ketotic hypoglycaemia) are likely related to these gut issues, but her condition is so rare, so no one can really say for sure,” Amy said.
Once doctors placed Evie was on home parenteral nutrition (HPN), which supported her nutritionally and metabolically, Amy was able to take her home after 221 days in hospital, just in time for Christmas.
Despite her health challenges, Evie remains resilient, constantly asking her treating teams for “fist pumps”, and dancing with her siblings, seven-year-old Lillian, and five-year-old Isla.
So, what would Amy tell other parents who may be embarking on a similar journey to hers?
“Trust your instincts, and advocate for your child. When it comes to rare disease, we are all learning together. Remember you’re not alone, you just need to find your tribe – they will help keep you sane!”
She also encourages people to speak to her openly about Evie and her condition.
“If you’re curious – please ask! We often see people around the streets or in the hospital who will stare at Evie. I am happy to answer your questions, because without education there is no awareness, and without awareness, there is no research. My child may literally be one in a million, but her life matters too.”
Parenteral Nutrition Down Under.