Wednesday, May 30, 2018

The Road to Treatment: Dear First Minister






Dear First Minister

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. 


Wednesday, May 16, 2018

The Road to Treatment: Letters to my MSPs




Dear MSP (local and regional)

Re: Access to spinal muscular atrophy treatment called Spinraza for all types of spinal muscular atrophy

I am writing to you regarding access to Spinraza, the first and only treatment for 5q spinal muscular atrophy (SMA).

5q SMA is a rare inherited neuromuscular condition which includes childhood onset Types 1, 2 and 3. It causes progressive muscular weakness and loss of movement due to muscle wasting. This may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. Without intervention, life expectancy for infants with SMA Type 1, is less than two years. Children with SMA Type 2 are never able to stand or walk, and live with a very complex and challenging condition that has a huge impact on both them and their families. Over time, those with SMA Type 3 also experience increasing difficulties with walking and standing. We estimate there are 110 children, young people and adults living with 5q SMA in Scotland and up to 1,300 in the UK overall. My daughter is Eilidh is 9 years old and has SMA Type 2. As her mother, but also as a wife, carer, advocate and doctor (specialising in palliative medicine and general practice), I want to share my experience of living with SMA and do so below. I am also chair of the Scottish Council for MDUK and represent those living in Scotland with SMA.



“So, what does this highly specialised day to day management of SMA look like?  The list of needs and care required is endless. Our story is in no way unique but will in some way reflect what individuals – children and adults - and families living with SMA will endure daily.

Each and every day Eilidh is dependent on other people and the equipment provided for her. Her morning routine consists of moving from her profiling bed to hoist to toilet to hoist and back to bed. What follows next is a battle as to whether she wears her spinal jacket or not and then she is dressed – none of which she manages on her own. She is then manoeuvred from bed to hoist to power wheelchair to WAV and then to school. At school she requires 2:1 support for personal cares.


There is no reprieve at night: unable to move or turn nights mean my husband and I are up perhaps 6-8 times when she is well but more often when she is unwell. She doesn’t require non-invasive ventilation at this time but is most likely to in the future when her muscles of respiration will struggle to move air into her chest. We live with the constant threat of a chest infection. The slightest cough and antibiotics and chest physiotherapy are commenced immediately to avoid hospital admission and potentially ventilation.

Eilidh has a worsening scoliosis of the spine and the future most likely means a procedure, a spinal fusion, to ensure that her thoracic cavity is not compromised which could result in further deterioration of her breathing, and also to ensure a stable and comfortable sitting balance. There are risks of an anaesthetic and ventilation: as a mother I am scared, as a doctor I am terrified because I understand the true risks and implications for Eilidh and for us.

We are isolated within our extended family and community where access is problematic – our adapted home feels like a prison. We receive self-directed support but there are no agencies – even those commissioned by the local authority - to support Eilidh, to support us, and no respite offered.

I am currently evaluating my career as maintaining a life work balance with a child with additional needs child is nye on impossible; trying to juggle hospital appointments, physiotherapy, and hydrotherapy, to name but a few, is so very hard.

As a mum I am aware that SMA divides our family and steals our time. I am overwhelmed, exhausted, living with chronic sadness and longing for a life imagined before SMA.

What does this treatment mean for my daughter? The progressive nature of SMA means that, for many, stabilisation is as valuable as improvement and Spinraza may allow this for Eilidh. It’s the ability to raise a chocolate bar to her mouth, to paint a picture, to knead pizza dough make her day a good day - it’s these small things that we take for granted that are important to a child living with SMA. For the adults I know living with SMA it’s the difference in being able to control their power chair independently, to raise their fork to their mouth, to swallow safely and cough to clear their airways, and to move a ventilation mask when they are alone overnight.”



On 31st December 2016, Spinraza was recognised as having the potential to change the lives of all those with 5qSMA and was licensed in the USA. On 1st June 2017, it was granted a license by the European Medicines Agency. It has now been approved for treatment of those with all types of 5qSMA in many other countries in Europe and the rest of the world.

You can imagine the high hopes of the SMA Community in Scotland when we heard that Spinraza was to be considered for provision here. Imagine now how we feel having heard the news on May 7th that the Scottish Medicines Consortium (SMC) has approved it for use on the NHS in Scotland, but that this is only for children with SMA Type 1. Whilst we recognise this is a positive step forward and a lifeline for these children and families, it is hugely disappointing that children, young people and adults with Type 2 and Type 3, who wish to access and could potentially benefit from this treatment, still don’t have this opportunity. We, along with SMA charities, have been calling for equitable access for those with all these types of SMA and this was made very clear in all the charities’ patient submissions and representations to the SMC.


I understand that these recommendations have been accepted by the Scottish Government and are due to be implemented in Spring 2018. It is now May.

I would be very grateful if you would write to the Cabinet Secretary for Health and Sport to ask that the Montgomery recommendations are implemented urgently so that Spinraza can be reassessed as a matter of priority for SMA Types 2 and 3 under the new appraisal process.  

I would also be very keen for you to show your support by finding out more about the urgency of access to new treatments for people with muscle-wasting conditions and other rare diseases and discuss how to remove the barriers to this by attending:

Muscular Dystrophy UK’s Fast Track to treatments MSP drop-in event: Wednesday 30th May, 6pm to 8pm, Fleming Room (Committee Room 3), hosted by Jackie Baillie MSP.



NB: this letter was based on a template written by MDUK and shared with other families living with SMA; it is therefore not all my own writing.