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Children with deadly genetic condition HT-1 get fully subsidised treatment

Sunday, July 10th, 2016

Twelve-year-old Charbel Torbey, with his dad David, has the extremely rare genetic condition tyrosinaemia type 1 (HT-1)image www.newcures.info

Twelve-year-old Charbel Torbey, with his dad David, has the extremely rare genetic condition tyrosinaemia type 1 (HT-1). Photo: Wolter Peeters

As Charbel’s parents dressed their four-month-old for his christening they noticed his nappy wouldn’t fit over his engorged tummy.

“He was really bloated, and his body was covered in these different coloured patches and he was squirming in pain,” Charbel’s father David Torbey said.

“We didn’t know that his organs had started shutting down.”

The new parents rushed their baby to hospital. Two days later he was diagnosed with the rare genetic condition Tyrosinaemia​ type 1 (HT-1) and treated with the orphan drug nitisinone (Orfadin).

“The doctors told us another day or two and he would have been dead. We were very lucky,” Mr Torbey said.

Just one in 100,000 babies are born with HT-1, amounting to fewer than 20 cases in Australia.

Without access to nitisinone most babies with the metabolic condition don’t live past their fifth birthday. The only treatment is a liver transplantation.

The oral capsules, distributed in Australia by Menarini, can cost between $2000 and $8000 a month and increases as the patient grows.

Those children are now assured fully subsidised access to the oral pill after the federal government added nitisinone on the Life-Saving Drugs Program (LSDP), committing $12.3 million to cover the cost over the next five years.

HT-1 patients don’t have the enzyme needed to break down tyrosine, an amino acid in protein foods, which builds up in the liver causing serious damage to the organ as well as the kidneys and brain.

The metabolic condition is easily missed at birth and the first few months of life with only ague symptoms including fever and failure to gain weight. Eventually the child develops jaundice – a yellow tinge to the skin and eyes – and a distinctive cabbage-like odour to the skin and urine.

A handful for paediatric services in public hospitals have been footing the bill for the drug since it was approved by the Therapeutic Goods Administration in October 2010.

But families of children with HT-1 had been looking to the future with uncertainty, knowing most hospitals don’t provide the drug, and adding the costly treatment to their drug store was an undesirable prospect for stretched health budgets.

Director of pharmacy at the Children’s Hospital Westmead Peter Barclay said he is worried his patients would struggle to access the drug when they aged into the adult healthcare system before the LSDP listing.

“There’s a lot of uncertainty about what happens to these children when they leave our care,” Mr Barclay said.

“It’s a barrier to finding another doctor and another hospital that will agree to supply the medicine, which would cost them tens of thousands of dollars a year for that single patient.

“The listing is great news for families who now know their children will have access anywhere in Australia. This is truly a life-saving drug.”

Mr Torbey said the concern was the hospitals losing funding for the drugs.

“Our biggest fear was the hospitals would say ‘We’ve had your funding cut, so you’ll have to find somewhere else to get [nitisinone]’,” he said.

“[The LSDP listing] means we don’t have to worry about Charbel later in life. That he won’t be constantly thinking about where he’s going to get [his medication].”

The father from Belfield in Sydney’s south-west knows how dire access to HT-1 can be outside of Australia.

Charbel had become ill during a family holiday in Lebanon when he was six months old and taken to a local hospital where another baby had just been diagnosed with HT-1.

“[The doctors] begged us to donate some of Charbel’s medicine to them,” Mr Torbey said.

“But we just didn’t have enough to give away and get Charbel back home. I’m still torn up about that. I don’t know what happened to that kid.”

Almost 12 years on Charbel has grown into a tall, lean boy.

The talented rugby player will need to take nitisinone for the rest of his life and follow a strict protein-free diet. He will never be able to eat meat, eggs, milk, cheese, nuts or lentils.

“In a way he’s lucky he doesn’t know what he’s missing out on,” Mr Torbey said.

“But he loves the smell of meat on the barbecue.”

tytrcvi yt

Henry Sapiecha