SINCE their two-year-old daughter Bella received a life-changing diagnosis earlier this year, Victoria Point parents Sarah Tolcher andKarl Rudolph have discovered the impacts of having a child with a rare disease.
CoPAN, or COASY Protein-Associated Neurodegeneration is caused by a mutation in a protein coding gene. It usually occurs in childhood and has symptoms similar to Parkinson's disease.
Developmental delays were the first sign that Bella could have problems with her health.
In October 2020, Bella had a seizure, prompting more tests at Queensland Children's Hospital.
The next month, the couple were told doctors suspected Bella had a rare metabolic disorder.
Her blood was sent to the US for further testing.
"[We had] over three months of incredibly anxious and worrying waiting," Ms Tolcher said.
On February 18, Bella was diagnosed with CoPAN.
Queensland Children's Hospital doctor Matthew Lynch said CoPAN was a rare genetic condition in the gene called COASY and is essential for various biochemical processes in the body.
"Children with mild cases of CoPAN, like Bella, have delayed development, walking difficulties, abnormal limb movements and seizures during early childhood," he said.
He said more severe cases can present at birth with small head size, feeding difficulties, seizures, and limb contractures.
"Children who are severely affected by CoPAN have a life-limiting disorder and don't survive past infancy," he said.
Ms Tolcher said her family's life had been turned upside down after Bella's diagnosis.
"[We are fighting] to understand what this means for our baby girl," she said.
"However we refuse to allow this disease to define our daughter."
Bella has mobility, cognitive and speech delays and epilepsy, and sees several specialists including a metabolic doctor, physiotherapist and speech therapist.
Dr Lynch said there was no cure for CoPAN.
"Treatment for symptoms of CoPAN aims at improving aspects of the condition with things like anti-seizure medication and feeding assistance if swallowing is challenging.
"Disease-specific treatments in rare diseases are challenging due to their rarity. There are researchers internationally who work in the field of these conditions who are continually working towards specific treatments, but none are available yet," he said.
Bella's family hopes when her NDIS package is reviewed, she will be able to get extra support and technologies to improve her quality of life.
"The whole idea of her therapy and her treatment is to support her to achieve as much as humanly possible particularly whilst she is very young, so that once the disease begins to progress then hopefully, she may not fall as far back as quickly," Ms Tolcher said.
"We are constantly terrified for what the future holds.
"Our biggest fears all really relate to how this diagnosis has changed what we thought Bella's future may be - will she be able to go to school, will she be in a wheelchair, will she be able to live independently, ever get married or have children?"
Ms Tolcher wants to create a safe space for families affected by CoPAN to come together for support.
"Once we found out the diagnosis and how rare this disease is we immediately felt so alone," she said.
"There are families we can talk to with similar NBIA [neurodegeneration with brain iron accumulation] diseases but it really just doesn't feel the same."
She urged parents to trust their instincts when it came to their child's health.