Jen and Jayda Conci have an unbreakable bond like no other. The Sippy Down sisters share a genetic condition so rare, it stumped the global medical community for more than a decade.
The heartbreaking disorder has meant both girls have endured more medical procedures and hospital stays in their lifetime than any child should have to face.
Every day, 17-year-old Jen consumes tablets to keep her body functioning – at last count, she was up to 450 tablets a week. Fourteen-year-old Jayda needs about 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. At the age of only 10, she 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 per cent 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 (that give access to the large central veins near the heart), been on TPN (Total Parenteral Nutrition) many times, had a ‘Mickey and Minnie’ (low-profile balloon tube: MIC-KEY or AMT Mini-ONE) 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, she is only 132cm and weighs 27 kilograms.
“I’ve spent birthdays, Christmas, Easter, Mother’s Day and Father’s Day in hospital, and I’ve missed a lot of school and other important events,” she says.
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,” Rebecca says.
“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. As Rebecca says, “Sometimes it feels like we are fighting in the dark against an unknown foe. We simply don’t know what tomorrow will look like.”
Family members 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.
“These two young ladies have probably sampled a wider variety of Give Me 5 resources than most,” Wishlist CEO Lisa Rowe says.
“Apart from the wonderful things like the Clown Doctors and the Calm Fairies and the VR goggles that have made the Conci family’s many visits to the hospital more bearable over the years, it’s also things like a special project funded by the Give Me 5 appeal to bring the hospital’s electronic medical records systems up to date that has ensured the best possible outcomes for the girls.
“The Paediatric Acute Emergency Management Plan Project allows all staff access to information critical to
emergency situations.
“So, when patients present to the hospital, there is a complete record of the medications they are on and other information medical staff need to know when time is of the essence. This is especially critical for cases like Jen and Jayda who present often, and for those who are critically ill to avoid delays in treatment or administering correct treatment.”
It’s the reason the family is throwing its 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 such as the Clown Doctors at SCUH and purchase a point-of-care ultrasound for the Children’s and Adolescent Unit.
“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.”
Find out how to support 92.7 MIX FM’s Give Me 5 appeal by visiting mixfm.com.au.
Did you know?
- 92.7 MIX FM’s Give Me 5 is a month-long festival of fundraising whichprovides money for family health services on the Sunshine Coast.
- So far, more than $6.6 million has been raised and directed to support the growing health needs of patients and families in the region and beyond.
- The year’s ‘wish list’ includes important medical equipment, extra health services to support children and so much more. See the complete list on this page.
- Wishlist celebrates 25 years this year, which includes over $21 million distributed to enhance local public health services for the benefit of patients and families.
2023 GM5 Wish List
Point-of-care ultrasound
Cost: $33,500
This portable ultrasound enables doctors and nurses to diagnose young patients faster, more accurately, and in a non-invasive way without relying on trips to the radiology department.
Child continence service
Cost: $7825
Children who require specialised allied health continence services have previously been required to travel to Brisbane. But thanks to Wishlist funding, physiotherapy is now included within the multidisciplinary team to assist with this service.
Equipment for mums-to-be
Cost: $9790
HiPac chair to improve comfort and pain relief for women needing an epidural during birthing. This revolutionary device positions patients safely and securely during epidural procedures and removes strain and potential injury to health staff.
Creating calm in the birthing suites
Cost: $11,032
(ATSI and fetal loss) With public support, the installation of wall art in the Sunshine Coast University Hospital birthing suites can be funded to create a calming environment for new parents.
Clown Doctors
Cost: $110,800
Ongoing funding is needed. This service is only funded to June 30 his year. Clown Rounds each week are invaluable to young patients and caregivers, as well as health staff.
Calm Fairy
Cost: $13,000 per year
The Calm Fairies help anxious kids feel safe and calm in hospital.
Therapy dogs
Cost: $1000 to fund a therapy dog for a year.
Pet therapy touches humans psychologically, physically, mentally and emotionally.
