By Kirsty Topping
SCOTS suffering from a rare genetic disorder are being denied life-saving drugs due to where they live.
Only 11 people in Scotland suffer from Pompe Disease, and while three are being given the wonder drug Myozyme on the NHS the other eight are not.
Pompe Disease is an incurable condition which can attack the heart and lungs and leaves sufferers confined to a wheelchair and needing oxygen round-the-clock.
The condition is so rare that the cost of Myozyme has been inflated, to 250,000 a year, to recoup the development costs.
Medications like Myozyme which are effective but not commercially viable are sometimes known as
“orphan drugs.”
Now one sufferer is considering moving her family across the country to get the vital treatment.
Lynn Millar, 42, from Troon does not take the drug as her health board, NHS Ayrshire and Arran, does not fund it but other health boards, including NHS Grampian and NHS Tayside do foot the bill.
Lynn, who was diagnosed soon after giving birth to her daughter Lauren in 1999 said:
“Although Myozyme isn’t a cure, it does halt the disease and it can even lead to an improvement.
“At the moment I’m still working and raising Lauren
“But untreated my condition will get worse and leave me in a wheelchair and in a care home.
“I can understand the cost is high but that shouldn’t be the sole factor for consideration.
“What will it cost the state when I require round-the-clock care for the rest of my life?
“At the moment I work full-time and contribute to society.
“There are plenty of people on methadone who health boards have no problem prescribing. The costs of that must be huge.
“I also worry about the impact on my daughter.
“At the moment she dreams of being a teacher and I don’t want her sacrificing those dreams to turn into a full-time carer for me.
“It would be a wrench to leave my family but moving across the country to an area where the drug is prescribed is looking like my last option. “
A spokeswoman for Rare Disease UK said:
“Access to orphan drug medication can often be extremely difficult for patients with rare diseases.
“Many of the decisions on whether to fund such therapies are made at a local level.
“This leads to a postcode lottery with variations in access across Scotland.
“Rare Disease UK is campaigning for a national strategy for all rare diseases to ensure access to treatment and information is coordinated and delivered to all patients. “
Myozeme is licensed for use across the UK. In England it was recommended for use but in Scotland the Scottish Medicines Consortium rejected it.
Because of the rarity of the condition health boards can override the SMC and make their own decisions.
Michelle Caldwell of NHS Ayrshire and Arran said:
“NHS Ayrshire and Arran, like all NHS boards follows a process to consider to medicines which are not recommended for use in NHS Scotland.
“The board follows the advice of the Scottish Medicines Consortium in this regard.
“We are not able to make any comment about individual cases. “
