Pressure groups are now demanding an advisory group that deals with specialist medication similar to that set up in England and Wales is established in Scotland to ensure patients get potentially life-saving treatment.
It comes as patient groups continued to put pressure on Health Secretary Nicola Sturgeon to end the “postcode lottery” in health provision after The Herald revealed a second patient with a rare blood disorder was refused a drug despite a plea from a top clinician.
Joyce Juszcak, a 65-year-old retired barmaid from Gourock, was refused the “miracle therapy” drug eculizumab for paroxysmal nocturnal haemoglobinuria (PNH) on appeal by an NHS Greater Glasgow and Clyde (NHSGGC) panel a matter of weeks after another patient, William Devine, died within days of receiving his rejection letter.
Analysis by Rare Disease UK shows that, of 59 rare disease medicines appraised by the health board medications advisory group the Scottish Medicines Consortium (SMC), nearly half were not recommended and just 15% were accepted, with 42% allowed for restricted use.
Rare Disease UK, which met in Glasgow yesterday, says rare disease medication is failing to reach patients because it is considered too expensive for use in Scotland while the same medicines are accepted in England and Wales.
They believe medication for rare diseases is not being prescribed because its cost effectiveness is being judged through conventional criteria which does not take adequate account of the fact treatments for small numbers of patients are expensive.
It is suggested a Scottish equivalent of the Advisory Group for National Specialised Services – a committee that advises health ministers at Westminster about rare disease medication – is set up in Scotland.
Over 350,000 people in Scotland will be affected by a rare disease and they are often chronic and life-threatening. Some 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday.
Lesley Loeliger, a Glasgow PNH sufferer, is one person whose life was transformed after NHSGGC agreed to let her have eculizumab. She has since set up a support group for patients to campaign for equal access to treatment.
She said: “You cannot put a value on the number of lives you would save by allowing medication. I cannot bear the thought that anyone’s suffering the way Joyce is. We have to fight for funding for medication for PNH and other rare diseases.”
Rare Disease UK said the SMC should review the mechanism and methodology used to appraise the value of medicines for rare diseases.
A Rare Disease UK spokesman said: “While we fully support the need to appraise medicines, we are concerned that by applying standard appraisal processes which have been developed for medicines for more widespread use, some effective medicines are being denied to patients.”
The PNH Alliance pressure group has written to Ms Sturgeon to ask her to intervene in the “postcode lottery” in which some patients received treatment while others are told the NHS will not provide it.
The Scottish Government had no comment to make yesterday, except to reiterate a statement that clinical decisions are based on “a robust national framework – not a postcode lottery”.
A spokesman for the Scottish Medicines Consortium said: “We recognise everyone wants the most effective medicines for themselves and their families.
“The Scottish Medicines Consortium has a robust process for assessing all new medicines, including orphan medicines used to treat rare diseases, and this process includes input from patient interest groups.
“We do take into account the limited clinical data available on orphan medicines and accept a greater level of uncertainty in the economic case provided by the manufacturer.
“As in all cases, where a medicine has not been accepted by SMC, all NHS Boards have procedures in place to consider individual requests when a doctor feels the medicine would be right for a particular patient.”