‘No one can give me answers,’ says mum of ‘one in eight billion’ little girl with ‘wee shaky legs’
MUM-of-two Rachael Duff calls her daughter Faith “one in a million” – but actually she’s closer to being one in several billion.
The little girl has a genetic condition so rare there are believed to be only four other known cases in the world – and her doctors use her as a case study, referring to her as “Child A”.
Faith, five, from Ballyclare in Northern Ireland, uses a wheelchair, has Stage 3 Kidney Disease and a bladder that doesn’t empty properly.
Because so little is known about her condition, doctors have been unable to predict what will happen as she grows up.
When she was diagnosed with a pathogenic variant of her ELOVL1 gene in July 2022, her parents Rachael, 37, and Michael, 39, were left with “more questions than answers”.
Rachael explains: “I had three questions for the specialists. I asked them how Faith’s condition would progress, would it limit her life-span, and had myself or Michael given it to her?
“For each question, the answer was ‘we don’t know’.
“The specialist emailed me links to a medical journal. It was heavy going, I was Googling every other word. It said there had only been four recorded cases of Faith’s condition anywhere in the world… ever.”
Faith was born prematurely in April 2018, at 30 weeks and six days.
“I’ll never forget the Lion King moment,” laughs Rachael. “Faith was born by C-section and the doctors held up high, so I could see her.
“I saw straight away that she was a little girl with a mop of blonde hair. It was instant love.”
She was taken to the neonatal unit at Belfast’s Royal Victoria Hospital for assistance breathing. She had a hole in her heart and a small bleed on her brain, but she progressed well and was discharged home in May – a full month before her due date.
By 18 months Faith was starting to miss her milestones. Her sitting was floppy and she wasn’t trying to walk.
At first doctors suspected cerebral palsy, but scans ruled that out.
“It was like her top half wasn’t connected to her bottom half,” explains Rachael. “They did an MRI of her spine and saw that her kidneys were distended and her bladder was about to pop!
“When they drained it, fluid went everywhere, we all got soaked.”
The hardest thing is not having any answers
Rachael Duff
Another call from Faith’s medical team still haunts Rachael. She was in her kitchen, making dinner, when a doctor called and explained they’d found swollen lymph nodes in Faith’s abdomen that could be tumours.
“They asked me to bring her to the hospital that evening for bloods,” she explains. “I was in bits, I thought screw the dinner! Faith was at my mum’s and when I went to collect her I could hear her playing in the bath, splashing around.
“When mum asked what was happening I just broke down.”
Thankfully tests ruled out cancer, but doctors were unable to pinpoint the cause until genetic testing revealed what was going on.
She has a complex range of medical conditions, including lower limb dystonia, stage three kidney disease, skin problems and a neurogenic bladder. Because so little is known about the genetic variant behind them, each is treated individually by the appropriate teams.
“There’s no information on Google, no parents’ forums or Facebook support groups,” explains Rachael. “The hardest thing is not having any answers. Everything is so unknown.
“I just tell myself each day that if Faith can do it, then I can do it. Her wee smile lights up every room, and as long as she’s smiling it gives us the strength to keep going.”
Faith attends a special school, where she is an academically bright and able pupil who is progressing with her reading and counting, “speaks non-stop” and “could sell snow to the Eskimos”.
She uses a wheelchair and recently underwent surgery to rotate one of her feet which had begun to turn in.
“Faith sometimes asks me when she will be able to walk, or when her wee shaky legs will get better,” Rachael says. “The other day she asked me if she would be able to walk when she was six. That was hard although she is set to begin physiotherapy soon and will hopefully start using a walking frame.”
The family recently got good news from her cardiologist. The hole in her heart is closing naturally and she won’t need surgery.
They have set up a fundraising page to cover Faith’s ongoing needs, including specialized physiotherapy and mobility aids as she grows.
For now, she’s a bright and happy child who loves messy play, Disney princesses, Playmobile toys and Chinese takeaways with her family.
“Faith is a happy, carefree little girl and we just want that to continue,” says Rachael. “For us, life can – and often does – change in an instant, so we take each day as it comes, but we’re also thinking of the future and what she might need when she gets older.”
To support the family: search ‘Fundraising for Faith’s Future’ on GoFundMe or Facebook
What are the symptoms of kidney disease?
Kidney disease does not tend to cause symptoms when it's at an early stage.
This is because the body is usually able to cope with a significant reduction in kidney function.
Kidney disease is often only diagnosed at this stage if a routine test for another condition, such as a blood or urine test, detects a possible problem.
If it’s found at an early stage, medicine and regular tests to monitor it may help stop it becoming more advanced.
A number of symptoms can develop if kidney disease is not found early or it gets worse despite treatment.
Symptoms can include:
- weight loss and poor appetite
- swollen ankles, feet or hands – as a result of water retention (oedema)
- shortness of breath
- tiredness
- blood in your pee (urine)
- an increased need to pee – particularly at night
- difficulty sleeping (insomnia)
- itchy skin
- muscle cramps
- feeling sick
- headaches
- erectile dysfunction in men
This stage of CKD is known as kidney failure, end-stage renal disease or established renal failure. It may eventually require treatment with dialysis or a kidney transplant.
Source: The NHS