Thursday, May 10, 2018

The Road to Treatment: Cross Party Group

Last night was the Muscular Dystrophy Cross Party Group Meeting at the Scottish Parliament. We were joined by Aileen Campbell, Minister for Health & Sport and Prof Alison Strath, Principle Pharmaceutical Officer for the Scottish Government. Spinraza was, as expected discussed.

In summary, I shared by disappointment with the announcement; the errors in documenting the cost-effectiveness - therefore it not being possible to compare like with like between the types; the feeling that what we had discussed at the PACE had not being accurately conveyed to the SMC; and the need for the adult voice to be heard. These concerns were echoed by another member of the meeting who had gone through the same process with Translarna (a treatment for duchenne) 2 years ago and she was dismayed to hear that the process had not improved despite the publication of the Montgomery Review.

The Minister and Prof Strath listened and genuinely seemed interested, taking on board all that was said. I can provide an update on what was said in reply.

The Montgomery Review on Access to New Medicines, published in December 2016, talked of new medicines for ultra-rare diseases being considered differently under a new appraisal processes. This process was supposed to be implemented by Spring 2018. It was confirmed last night byt Prof Strath that this process is still under consideration with no known timeline being confirmed. Biogen are keen for Spinraza to be reassessed after this new process has been implemented. This may therefore take some time.

It is hoped that in June of this the new Peer Approved Clinical System (PACS) Tier 2 will start, allowing for non-routine access to medicines on an individual basis. While each health board will operate PACS Tier 2 for their own area, a new National Appeal Panel will be introduced, for individual requests for access to medicines not approved by the Scottish Medicines Consortium. Prof Strath seemed to think that this was a more likely path for SMA types 2 and 3 in the interim.

Given the time frame and the urgent need for Spinraza to be approved for those with types 2 and 3 - to potentially halt further muscle weakness - Jackie Baillie, who chairs the CPG meeting,- supports the petition that I have lodged with Parliament pushing for an early reassessment and will help as she can. This petition should soon be available for circulation and allow us to promote awareness re SMA and Spinraza, but also show the strength of our voice.

The Minister and Prof Strath will feed back to the SMC about our concerns re erroneous data re cost effectiveness which is the most pressing of my concerns given the decision was based on cost alone (Prof Strath confirmed this). Prof Strath is also going to speak to me directly about the PACE and the Minister promises to continue the conversation.

The long and short of it, our disappointment has been shared, there is no quick answer but there is hope, and the conversation continues.

Monday, May 07, 2018

The Road to Treatment: Living with SMA

The SMC's decision has been announced and I am hugely disappointed. I feel that the lives of those with SMA 2 and 3 have not been taken in to account, that the outcome based evidence which shows small functional benefit in those with types 2 and 3 with minimal risk has been underplayed - as only those living lives without SMA can do - and the cost benefit has been inaccurately calculated. I have been contacted by adults living with SMA asking why they weren't represented during the SMC's process. Their voices were heard and their stories told through the surveys conducted by the main SMA charities, but no adult was present at the Patient and Clinician Engagement (PACE) meeting. This was an oversight, one which I am annoyed about for not considering before:  I, rightly or wrongly, felt I could represent all those living with SMA and I have carried that weight since the meeting. Here I share the story as shared at the PACE meeting.

In mid-March I was invited to attend a special PACE meeting at the Scottish Medicines Consortium in Glasgow. This meeting formed part of the SMC's appraisal process for Nusinersen (Spinraza) and was an opportunity for the SMC to gain further patient information following the submission of the Patient Group Submissions by MDUK, SMA Trust and SMA Support UK. The details of what was discussed at this meeting are confidential but I wanted to share here my story of living with SMA which I hope in some way represents the lives of those individuals - babies, children and adults - living with SMA in Scotland. 

My daughter Eilidh is 9 years old and has SMA Type 2. As her mother, but also as a wife, carer, advocate and GP I wanted to share my experience of living with SMA. I am also chair of the Scottish Council for MDUK and represented those living in Scotland with SMA.

As you will know, SMA is a complex, progressive and rare muscle-wasting condition leading to the gradual loss of the ability to walk, crawl, move, breathe and swallow and, until now, there have been no treatment possibilities. Management to maintain daily function and quality of life requires wide ranging, highly specialised and costly medical support and social care.

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 powerchair 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 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.

Nusinersen is the first treatment that improves outcomes for patients with 5q SMA and has the potential to save the lives of babies with Type I and to changes the lives of those with type 2 and 3. The CHERISH clinical trial in older children with Type 2 / 3 reports significantly greater proportions of children had clinically important improvements in motor function. What does this mean in reality? Nusinersen slows down deteriorating muscle function and weakness. The progressive nature of SMA means that, for many, stabilisation is as valuable as improvement. The results may not be as dramatic as in those with SMA Type 1 but small gains make a huge different to an individual’s health, independence and enjoyment of life. For Eilidh, the ability to raise a chocolate bar to her mouth, to paint a picture, to knead pizza dough make a 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 adults 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.  

Nusinersen will not be everyone’s choice but everyone living with SMA, regardless of the type -  should be allowed to have the opportunity to make such a choice in the hope that they can live the best possible independent life. What I am asking is for the chance to add Nusinersen to the medical management of SMA so that individuals, no matter their age, no matter their type of SMA,  have the choice of making the right decision regarding treatment for them, and can hope to achieve a future of well being that has never been possible before.