Equitable access to therapy for Pompe disease

Ayrshire & Arran NHS Board and Greater Glasgow & Clyde NHS Board have reviewed Individual Patient Treatment Requests since the publication of CEL 17 and have rejected them, although treatment was recommended by a UK specialist. The UK Guidelines have been written by specialists and the patients rejected by their NHS Boards in Scotland do fit within these Guidelines.
www.specialisedservices.nhs.uk/library/23/Guidelines_for_Late_Onset_Pompe_Disease.pdf

An appeal has been made to the Medicines Appeal Panel of Ayrshire & Arran NHS Board which has also been rejected on the grounds of cost efficacy, despite representation by a UK specialist.

A patient has written two letters to John Scott, her MSP, at the suggestion of Jackie Baillie, MSP.

This Parliamentary Question has been asked
-
S3W-40287
- Jackie Baillie:
To ask the Scottish Executive what review it has undertaken on Recommendation 11 of the Mackie Report: Access to specialist neuromuscular care and social care in Scotland by the Cross Party Group on Muscular Dystrophy.
Nicola Sturgeon (Wednesday, March 16, 2011):
“The enzyme replacement therapy for Pompe disease, Myozyme, has been appraised by the Scottish Medicines Consortium, but was not recommended for routine use within NHS Scotland. In such circumstances, NHS boards have arrangements in place to consider treatment requests from individual patients. Such decisions are made on a case by case basis, exercising professional judgement on clinical need.”

The Cross Party Group on Muscular Dystrophy in the last Scottish Parliament recommended that “The Scottish Government reviews the situation regarding the unequal treatment of the small number of patients with Pompe disease living in Scotland. While some patients are currently receiving enzyme replacement therapy, others are being refused this treatment. In England all patients are able to access this treatment.” This means that approximately 90 adult patients residing in England receive this treatment.
www.muscular-dystrophy.org/assets/0001/9335/Mackie_Report.pdf
Robbie Warner, Chair of the Muscular Dystrophy Campaign’s Scottish Council is quoted in the Mackie report hoping for service improvements:
“I would want advice available for people living with muscular dystrophy, and I would want the planning to be done and for people to acknowledge it. I would want the whole system streamlined in such a way that you don’t have to fight to get everything, because if you get it at the end of the fight, you wonder whether all that energy was wasted in terms of them resisting it. I would like to see a change of attitude that would say that you need it and you plan for it, and get into a working relationship.”

First Minister Alex Salmond has previously intervened to support a case for one of his constituents to receive treatment for Pompe disease.
http://www.heraldscotland.com/news/health/families-launch-an-appeal-for-rare-disease-treatment-on-nhs-1.1092516?57380
From this same article, published in The Herald on 25 March 2011:
• Allan Muir, development director of the Association for Glycogen Storage Diseases – which supports families affected, said: “Access to therapy for Pompe disease patients in Scotland currently depends on which health board a patient belongs to, and the vast majority of patients are being denied treatment. This is hugely frustrating for the families affected, especially given that patients with other related rare diseases are being treated with similar medications.”
• The Muscular Dystrophy Campaign is supporting the drive by Scotland’s sufferers to obtain access to the drug. Director of care for the charity Nic Bungay said: “We know of only 11 Scottish Pompe disease patients, yet the vast majority of them are being denied access to a ground-breaking treatment automaticall