Emily Reinig’s boys Leo and Darcy love to run around and play outdoors, but doctors say their quality of life is now at risk.

They live with a rare metabolic disorder, which can make daily life a challenge.

Aged four and six, they live with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase deficiency [LCHAD], and it is believed that they are the only two people in South Australia with the disorder.

The rare and lifelong condition prevents the body from converting fats to energy, particularly during periods of fasting.

Both boys were diagnosed with LCHAD at birth, and while they were both born prematurely, doctors could never determine whether it was related to the disorder.

Ms Reinig ensures the boys eat a low-fat diet, following specialist advice.

They also take a nutritional supplement called “MCT Pro-Cal” which is sold in powder form and assists their bodies to make proteins.

But recently, Ms Reinig was shocked to learn the supplement was no longer on the Pharmaceutical Benefits Scheme (PBS).

Baby Darcy with mother Emily Reinig.(Supplied)

“We went to our pharmacy to get our supply and the pharmacy let us know we weren’t able to get the product anymore,” she said.

Ms Reinig said while the supplement was not expensive, it was “difficult to import” and purchase without a license.

She said having the product available on the PBS had made accessibility easier for the family.

“It’s a difficult product anyway, it comes from Europe, it takes a while to get supplies in — we were concerned because the amount that we had — we knew was going to be the last left,” she said.

“We have a couple months’ left of supply and after that’s gone, it’s gone we don’t have anymore.”

Ms Reinig is calling for the supplement to be put back on the PBS.

Failing that, she said she would have to apply for a European dairy importers licence to get the product into Australia.

“They need this supplement to live well. It’s their future, so we are not able to get this through and back on the PBS, we will do whatever it takes,” she said.

Concern for repercussions

Women’s and Children’s Hospital Metabolic Clinic head Dr Drago Bratkovic said there could be repercussions on the boys’ muscle health if they stopped taking the supplement.

“What they might start to experience is muscle cramp and pain [which will] increase the risk of them having a muscle breakdown event called Rhabdomyolysis,” Dr Bratkovic said.

Dr Drago Bratkovic said there could be repercussions on the boys’ muscle health if they stop taking the supplement. (ABC News: Shari Hams)

“In time it can also effect other things like the backs of their eyes, their retina and also the nerves in their arms and legs.”

A Department of Health and Aged Care spokesperson told the ABC the listing and delisting of medicines on the PBS occured at the request of the company responsible for the supply of the medicine.

“The sponsor of MCT Pro-Cal requested to delist the product from the PBS for commercial reasons and indicated that it had almost exhausted all available stock at the time,” the spokesperson said. 

“MCT Pro-Cal was delisted from the PBS from 1 January 2024 with a ‘Supply Only’ period of three months until 31 March 2024.”

The department said it relied on advice from the Pharmaceutical Benefits Advisory Committee (PBAC) when considering listing and delisting medicines on the PBS and said it was open to the “sponsor” of MCT-Pro-Cal to apply to relist this product on the PBS at any time.

United Kingdom company Vitaflo, a subsidiary of Nestlé who makes the product, said in a statement that it ceased supply to Australia after operating at a “significant loss for many years”.

“Vitaflo decided to cease supply of MCT Pro-Cal last year following a 22 per cent price reduction by the PBS last year,” the statement read.

“While we applied for ministerial discretion to maintain the price, this appeal was unsuccessful.

“We wrote to healthcare professionals in July last year, advising them of our plans to delist MCT Pro-Cal and to cease importing it, and suggesting that patients be transitioned to an alternative at the earliest possibility.”

The company said it was not an easy product to import.

“It cannot be easily imported, as it is a bulky, difficult and costly product to ship, and because it includes dairy ingredients, requires an AQIS permit for each individual shipment,” the spokesperson said. 

The ABC has contacted the Department of Health and Aged Care for a response to the company’s comments.

‘Alternatives not an option’

Ms Reinig said alternative supplements suggested by health authorities had not worked for her children.

Two other supplements include an oil product which Ms Reinig said was not ‘easy’ for the boys to eat.

“We tried alternatives and unfortunately they weren’t successful,” Ms Reinig said.

Dr Bratkovic agreed the suggested alternative supplements could at times prove to be a challenge for young children.

“Dieticians are working closely with them and have been looking at alternatives, but it has been problematic,” he said.

“The product that these boys have been taking and no longer have access to is quite unique in the fact it’s mixed with other foods and actually very palatable compared to the other products on the market.

“Fundamentally, we are in a difficult position trying to find something to replace this product.

Babcy Leo was born premature and diagnosed with LCHAD at birth.(Supplied)

“We have tried to advocate where we can for them, but it has been a difficult process and we are a little bit blocked in what we can do.”

Doctor calls for flexibility

Dr Bratkovic said it was not the first time he has had patients living with a rare disorder struggling to obtain “niche medicines or supplements”.

“If anything comes of this, it’s to push the PBAC to be more flexible with these types of products particularly for rare conditions,” he said.

“The PBAC needs to be flexible in terms of how they approach these ultra-rare diseases and niche therapies and making sure they remain profitable for companies so they can provide products to the patients.”

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