There is no one in this world quite like Jen and Jayda Conci.
The sisters from Sippy Downs have a bond like no other because they share a heartbreaking genetic condition which limits their life and stumped the global medical community for more than a decade.
Every day, 17-year-old Jen consumes tablets to keep her body functioning – at last count she was up to 450 tablets a week. 14-year-old Jayda needs around 200 tablets each week to survive.
The teenagers have been diagnosed with a condition called ERCC1 – an ultra rare auto-recessive gene that parents Rebecca and Jason both carry and was pinpointed by the Murdoch Children Research Institute five years ago.
The gene was found after the girls’ sister Rivvah underwent testing and was found to be ‘ERCC1 negative’. She has no symptoms of the chronic illness that affects her sisters, and therefore at the age of only 10 is bigger and stronger than both of her much older siblings.
“It’s like a multiple organ failure,” Jen explains.
“Both sides of my pancreas have gone, my ovaries are gone, my liver was gone and now I’ve got a new one. I have 60 percent lung capacity, my thyroid doesn’t work, and I’ve have had four or five skin cancers (because of photosensitivity) and I think there’s a few more but I can’t remember what they are.
“My lungs have collapsed, my heart has enlarged, I have a permanent tremor, and sometimes struggle to walk. My bowel has collapsed and needed to be cut and rejoined, I’ve had central lines, picc lines, been on TPN many times, had a mickey and minnie feeding button, and had clots that required months of injections so it didn’t lodge in my lungs.”
Jen has spent months vomiting, and she struggles to gain weight - at the age of 17, Jen is only four foot four and weighs 27 kilograms.
“I’ve spent birthdays, Christmas, Easter, Mothers Day and Fathers Day in hospital, and I’ve missed a lot of school and other important events.”
This ultra-rare gene is the reason both girls have endured more medical procedures and hospital stays than any child should have to face.
In 2015 Jen underwent a life-saving liver transplant – which she celebrates like a birthday in November every year. Her sister received her new liver a year later at just eight years old.
“Jayda’s condition travels a little faster than Jen’s. She tends to go through things at a younger age than what Jen does,” mum Rebecca says.
“Unfortunately for Jen, we find out everything first with her, as there is no other child or adult with the condition, so we live in a world of instability. If Jen presents with the next organ failure or complication, then we know to expect it with Jayda.”
But even with a diagnosis there is no cure.
“There is no outline of what we have to do, or assistance and support of those who have been there before. In the world of rare illnesses we don’t fit anywhere. What it did was tick a box. A box that allows us to get things like NDIS funding to help support the girls as much as possible. A box that will help the girls as they grow into little women. And helps others understand that there is a ‘condition’ behind the complexity.
“Rivvah has grown up in and out of the hospital alongside her sisters.
“She has held their hands and ran for vomit bags when needed. She has cried with her sisters and is developing a strength that only a sibling of chronically ill sisters could.”
Being the only two children in the world with this condition, the reality the Conci family are facing is an unknown future.
“Sometimes it feels like we are fighting in the dark against an unknown foe. We simply don’t know what tomorrow will look like.”
The family are no strangers to the wards of the Sunshine Coast University Hospital (SCUH) and are there most weeks.
During their time they have been given the gift of laughter from the Wishlist-funded Clown Doctors, used virtual reality goggles to distract them from and during painful blood tests, and when receiving infusions and transfusions, and have seen their fair share of specialist health heroes.
It’s the reason the family are throwing their support behind this month’s 92.7 MIX FM Give Me 5 appeal which is raising much-needed funds for Wishlist to continue patient support services like the Clown Doctors at SCUH, purchase a point of care ultrasound for the Children’s and Adolescent Unit, and more.
“We just want to give back. This is our way,” Rebecca says.
“I often think of my children as gifts - here to educate and help us learn all we have to be grateful for. They make broken look beautiful and strong look invincible.
"They walk with the universe on their shoulders and make it look like a pair of wings.”