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Australian children with a rare and life-threatening disease have been given ease of access to life-saving treatment.

Australian babies and children with a rare genetic condition, called hereditary tyrosinaemia type 1 (HT-1), now have access to a subsidised life-saving treatment, Orfadin (nitisinone), following its listing on the Life Saving Drugs Program (LSDP), from 1 June 2016 (LSDP).

In Australia, only 1 or 2 babies are diagnosed with HT-1 every year. Without treatment, the majority of those affected would not make it past their 5th birthday. The listing of Orfadin on the LSDP means that the less than 20 Australian children with HT-1 now can apply for this life-saving treatment, irrespective of age or where they live.

Nicole Millis, Executive Officer of Rare Voices Australia (RVA) welcomed the listing of Orfadin on the LSDP which is offering peace of mind for patients and families living with HT-1 to access treatment.

“With the listing of Orfadin on the LSDP, patients with this rare disease, their families and treating healthcare professionals can feel confident in knowing that children living with HT-1 have access to a lifesaving treatment” she said.

This echoes RVA’s vision of extending and improving the lives of Australians with rare diseases by providing access to improved treatment options.

Children with this inherited condition cannot break down a protein building block called tyrosine which leads to a build-up of toxic by-products in the liver, leading to damage to the liver, kidneys and brain.

The condition is often not diagnosed at birth. Symptoms include fever, failure to gain weight, yellowing of the skin and eyes (jaundice) and development of a distinctive cabbage-like odour to the skin and urine.

Peace of mind for families

12-year-old Charbel Torbey was diagnosed with HT-1 only four months after he was born. His father David said that the listing of Orfadin provides the family with confidence knowing that Charbel’s life-saving treatment will be available to him on the LSDP.

“My wife and I suspected something was wrong just before Charbel’s christening when we noticed that his stomach was enlarged and his skin changed colour. He had a high fever which wouldn’t come down and showed visible signs of being in pain. He was diagnosed with HT-1 shortly thereafter” David said.

“With Orfadin being listed on the LSDP, we now have peace of mind in knowing that Charbel will have ongoing access to a treatment that he cannot live without. It takes a lot of emotional stress off us as parents to know he will continue to have access to Orfadin, now that it has been recognised by the government as a life-saving treatment”.

Distributed by Menarini, Orfadin is now easily accessible to treat HT-1 and must be used with a special lowprotein diet. Before its availability, liver transplant was the only option for patients with the disease.

The Australian Government’s decision follows over 2 years of work and close collaboration with the Department of Health and is part of Menarini’s commitment to ensuring Australians have access to lifechanging treatments.

“Menarini takes great pride in putting patients first and providing a treatment, such as Orfadin, which is truly life-saving,” said Craig Kelly, General Manager of Menarini Australia.

Early detection and treatment is vital to reduce the risk of liver damage. While the disease cannot be cured, with Orfadin and a special diet it can certainly be managed. Like all medicines, people receiving Orfadin may experience side effects, however these are mostly mild and often wear off after a few weeks.

What is HT-1?
Children with this inherited condition can’t break down a protein building block called tyrosine which leads to a build-up of toxic by-products in the liver, leading to damage to the liver, kidneys and brain.

The condition is often not diagnosed at birth. Symptoms include fever, failure to gain weight, yellowing of the skin and eyes (jaundice) and development of a distinctive cabbage-like odour to the skin and urine.

What does the LSDP listing mean for patients?
The listing of Orfadin on the LSDP means that the less than 20 Australian children with HT-1 now have access to this subsidised life-saving treatment, irrespective of age or where they live.

Distributed by Menarini, Orfadin is now accessible to treat HT-1 and must be used with a special low-protein diet. Before its availability, liver transplant was the only option for patients with the disease.

Share your comments below.

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  • It is great that new medications are coming out to help children and others to deal with these diseases. It is so hard to know unless tested for some of these diseases if you are a carrier for them. Lucky my husband was not a carrier of some that I carry , so no children are effected. My oldest is a carrier of it, lucky none of my other children carry the gene. We were tested after my mother’s twin sister second grand child was born with it.

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  • It’s cruel that kids have to get sick. It’s wonderful to see such advancements in reasearch to help them recover.

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  • I have not heard of this disease. It is great that a form of treatment is available and provides hope to the families. This will also reduce the number that need a liver transplant. A win all round.

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  • It is hereditary. I wonder how it is carried, how many generations it skips, or whether it is a rare combination of genetic factors.
    I am glad they have a proper diagnosis, research has found suitable treatment. get Govt recognition and medication subsidy will be an enormous relief for all families involved. The stress would have been unbelievable.

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  • great news for these sufferers!

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  • Modern medicine is truly remarkable.

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  • I have never heard of HT-1. I’m glad treatment will be available for affected families

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  • This will provide a great relief to many families.

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  • This is wonderful news for many children

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  • Wonderful news to be given access to what may save their life.

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  • Good. I understand the need to b cautious with new drugs, but this is good.

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  • Oh! That’s a big improvement! So glad that there are other options for people affected by this condition!!

    Reply

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