Two years have now passed since I attended a meeting with you, Michael Young and his mum Michelle, and Robert Meadowcroft, CEO MDUK. Michael presented to you a petition requesting for your help to ensure that boys living in Scotland with a specific genetic anomaly would have access to Translarna, a ultra orphan medicine for Duchenne muscular dystropy. ( https://www.change.org/p/nicola-sturgeon-ensure-access-to-duchenne-drug-translarna-in-scotland ).
At this meeting we shared our concerns regarding the process the Scottish Medicines Consortium had undertaken during the review. As a result Dr Brian Montgomery undertook an independent review looking at the impact of the new SMC approach to assessing such drugs in 2014. Dr Montgomery's recommendations were clear: to develop and implement a new assessment and approval pathway for true ultra-orphan medicines that restricts the role of SMC to health technology assessment and places the responsibility for the final decision on availability elsewhere. This pathway was supposed to be implemented by Spring 2018; we are still waiting for clarity when this will be ready.
I am writing to you now as I continue to have concerns regarding the process the SMC undertakes when reviewing ultra orphan drugs. This time it is my daughter Eilidh's quality of life that potentially suffers from the decision making process. Eilidh has spinal muscular atrophy (SMA) and could benefit from Spinraza (Nusinersen): on the 7th May the SMC announced that Spinraza would be available only to infants with type 1 SMA. Eilidh has type 2.
I have been fortunate enough to be involved in all stages of the patient group submission process and PACE. I attended the final meeting. I understand the evidence and the health economics as I am a medical doctor specialising in general practice, palliative care and research; but even truer, however, I understand the real lived implications on quality of life as I am a mother to a nine year old with SMA.
I have attached a letter sent out to be local MSP, my regional MSPs and the Presiding Officer which details my concerns and invites them to a Fast Track to Treatment Event to be held in Parliament tonight . I will be attending the meeting - as will Michelle Young - and once more we will be sharing our concerns re SMC and access to ultra orphan medications. I understand that this invitation may come too late for you to be able to attend and so instead this email is more about raising your awareness of continued dissatisfaction with access to life changing medications for those with ultra rare diseases.