CQ girl to become youngest in world to receive new surgery
ONE brave little girl from Stanwell is battling the odds as she faces a life with a rare genetic disorder that affects only one in 5,000 people.
She is likely to become the youngest person - at three-years-old - in the world to undergo a new heart surgery, that has only ever been performed on one other Australia.
Marfan syndrome is a genetic disorder of the connective tissue, which affects the heart, eyes, blood vessels and bones.
The disorder is one that would eventually cause Grace to suffer a fatal aneurysm if left untreated.
On March 7, Grace will face the biggest challenge so far. She will undergo a complicated surgery called the Personalised External Aortic Root Support (PEARS).
However, it wasn't until Grace was two-and-a-half, that her parents uncovered her fatal and rare disorder.
"We felt hopeless," her mother Rebekka said.
"I knew something wasn't right but unfortunately we put our trust in the experts to tell us what was going on.
"Sometimes they are so busy that they don't stop to think of the unusual or the rare thing that it could be and the right diagnosis is overlooked."
At a local optometrist, her parents were told she had 20/20 vision.
However, when Rebekka and Louis, her father, noticed that her vision was worsening last year, they took her to a local optometrist.
"We were told she had severe myopia and needed to see a specialist," Rebekka said.
"We were going to Sydney a couple of days after and were driving back through Brisbane when I suggested we try and get in with a specialist. We were very lucky to get an appointment."
There they met ophthalmologist Dr Phillipa Sharwood who diagnosed Grace with estopia lentis (blocked lenses).
"Dr Sharwood was amazing. She found that Grace's lenses were floating around her eyes," Rebekka said.
"She performed a lens removal surgery on one eye in August last year and the other two weeks later in September."
Grace is now legally blind, but has special glasses that help her see and have improved her confidence "through the roof".
When she is a teenager, she will undergo another surgery, intraocular lens implant, which will involve inserting artificial lenses.
"Dr Sharwood told us to look up three different syndromes, Loeys Dietz, Ehlers and Marfan, and see if anything clicked.
"We looked at the symptoms and were absolutely horrified. It was so severe."
Through their research, they were stunned to discover similarities between Grace and others with Marfan syndrome.
"We were in denial. We thought there was no way she had been going around with severe heart issues without us knowing," Rebekka said.
"But the way the babies looked, we saw similarities; the real velvety soft skin, really long fingers, very tall, flat feet, long toes, extremely flexible, pectus excavatum (a dip in her chest where the breastbone and several ribs have grown in an inward direction), these were all things she had."
Two weeks later, through a referral from Dr Sharwood, the family drove back to Brisbane to receive a clinical diagnosis of Marfan syndrome from cardiologist Dr Chris Whight.
"He had to do an echo cardiogram and found a diluted aorta and mitral valve prolapse," Rebekka said.
"They put her on a drug called Losartan which is effectively a blood pressure medication and works fantastically at slowing down the dilation of the aorta.
"If the aorta were to burst, she'd be dead. Just like any other aneurysm."
On March 7, a surgeon from the UK will fly over to Brisbane to perform the cutting edge surgery on Grace, two other children and three other adults.
"We know him as Dr Conal. He'll be scrubbing in with Australian doctors including Dr Nelson Alphonzo and Dr Preesh and showing them the ropes," Rebekka said.
"It's a less invasive procedure and is a much nicer option than the others. It will be quite exciting for Australia, especially if it all works well."
Despite the trepidation Grace's family is feeling leading up to the big day, her positivity has helped them cope with the difficult time.
"Kids are amazing. They aren't like adults who wallow, they get on with life," Rebekka said.
"Grace is a beautiful, grateful kid. She lives life to the fullest and it helps us to know that she doesn't struggle.
"This procedure will literally save her life and the brilliant thing is the aneurysm should be fixed for life now, because even though it's a relatively new procedure and there isn't much data, over the last 15 years nobody has had to have it fixed or go back.
"In five years she will need to have her mitral valve prolapse fixed, but in regards to aneurysms, fingers crossed that's it."
Grace will continue to be monitored for aneurysms throughout her life and despite the "rough road ahead", her positive, tough attitude is sure to keep her fighting strong.
Rebekka said throughout the process, staff at Queensland Children's Hospital have been "amazing".
"Getting Dr Colan over here, it's just phenomenal. They put a lot of hard work into getting these patients the best care possible," Rebekka said.
Rebekka's grandmother Colleen Baker said the support the family has received at Ronald McDonald house has been unparallelled.
"They're an amazing charity," Colleen said.
"We couldn't praise them enough. They give you peace of mind during a tough time.
"There's been some rough, emotional times, especially when they weren't getting answers initially. You think you're being palmed off.
"To finally get the response was very emotional and devastating. We all only want the best for Gracie.
"Some days are better than others but the family just deals with it and takes it in their stride and are strong for each other. That's what families do."
What is Marfan syndrome?
Marfan syndrome is a genetic disorder of the body's connective tissue which affects one in 5,000 people.
The disorder affects the heart, eyes, skeleton and lungs, and can cause fatal aneurysms.
There is no cure, but medication, surgery, monitoring and avoiding heavy physical activity and contact sports can manage the condition.
Unlike Grace's condition, which was spontaneous (meaning it developed within the first 48 hours of conception for unknown reasons), the disorder can be transferred from parents to their children.
The abnormal gene affects the composition of fibrillin, which is a substance that contributes to connective tissue integrity.
Symptoms of Marfan syndrome include family history, a long, narrow face, a tall frame with long limbs, fingers and toes, sunken or protruding chest, extreme flexibility, scoliosis, visual problems, enlarged aorta, mitral valve prolapse, small lower jaw and highly arched palate, spontaneous lung collapse and an enlargement of the outer membrane around the brain and spinal cord.
The gene responsible for Marfan syndrome was first identified in 1991 and research into the condition is ongoing.