SCOTS sufferers of a rare muscle-wasting disease are to meet the First Minister this week to urge him to intervene after their health boards rejected applications for the only drug that will prevent their conditions from deteriorating.

In an unprecedented move, Alex Salmond has personally invited the group – which includes a female Pompe disease patient from Troon and the mother of a young man from Aberdeen who has been confined to a wheelchair as a result of the illness – to meet him at the Scottish Parliament in Edinburgh tomorrow.

They will be accompanied by Joan Fletcher, an expert in the disease from Manchester, and campaigner Sean Clerkin, from Glasgow

Pompe disease is an extremely rare degenerative disorder believed to affect only 11 Scots. Babies born with the condition are likely to die within 12 months without treatment, while people who develop it in adulthood will be confined to a wheelchair within 10 to 20 years of diagnosis as their muscles are gradually destroyed. They will also rely on a ventilation machine to support their breathing, and have their life expectancy cut short.

The disorder is caused by excessive build-up of glycogen in sufferers' bodies. The problem is brought about by a defect in the gene responsible for manufacturing the enzyme that can break down this sugar, which is stored in muscle cells.

However, there is a drug that can halt the progress of the disease in its tracks. Myozyme has been licensed for use in the UK since 2006 and is routinely available on the NHS in England, but not in Scotland.

The Scottish Medicines Consortium rejected it for use in NHS Scotland in 2007 on the grounds that the drug – which can cost up to £250,000 a year – was not cost effective. Since then, three Scots patients have uprooted to England to access the treatment for free, while another five have obtained it through their health boards on a case-by-case basis under Scotland's Individual Patient Treatment Request scheme.

The remaining three patients – in Troon, Glasgow and Aberdeen – have had their bids rejected, and have now turned to Mr Salmond for help. Although it would be highly unusual for the First Minister to intervene in health matters, which are primarily the remit of his deputy, Nicola Sturgeon, or to override decisions reserved to individual health boards, he famously stepped in in 2008 in his capacity as MP for Banff and Buchan to help a constituent whose six-month-old son was dying from Pompe disease. The infant, Ching Shen Tye, became the first person in Scotland to receive Myozyme.

Ms Fletcher, a clinical nurse specialist in Pompe disease who works as a family support officer for the Association of Glycogen Storage Disease UK, fears time is running out for Scotland's sufferers.

She said: "One of the really sad things is that timely intervention can prevent the disease getting worse, but with these processes taking so long, the patients are struggling and suffering longer. If they started Myozyme early enough, it's been proven that it will help the disease."

Ms Fletcher added: "I understand that it's a devolved administration, but it's the inequalities within Scotland itself that's so frustrating."

Mr Clerkin has been lobbying the Scottish Government on the issue since reading about the plight of Pompe disease patients in The Herald last year and approached Mr Salmond to request a meeting.

He said: "We're hopeful Mr Salmond will intervene as he did before."

A spokesman for the Scottish Government said: "The First Minister will meet with individuals who have Pompe disease this week to hear about their experience and listen to any concerns and suggestions they may have."