anna's blog

Our beautiful, gorgeous little girl, Anna, has leukaemia. She was diagnosed on Monday 5 December 2011.

Spinraza – approved!

on February 13, 2019

Today, Spinraza has finally been approved for all those with SMA in Scotland. Although we were hopeful we would reach this day, it was never a certainty. Spinraza is the first ever drug treatment for SMA and while it is not a cure, it will hopefully give all those with SMA more muscle strength than they currently have or at the very least halt the deterioration.

Spinraza is the first and only approved treatment for SMA, a life changing and life threatening condition. Biogen, and the scientists behind the development of Spinraza, have won numerous awards for this groundbreaking new drug. Yet for the past couple of years we have watched as other countries have approved its use for all whilst England, Wales, Northern Ireland and Scotland have refused it to all those other than the most severely affected (SMA types 1).

‘SMA is a rare muscle wasting condition which affects the ability to walk eat and ultimately breathe is the leading cause of it infant genetic death and those of the most severe form of SMA are unlikely to live to see their second birthday’ (www.pbiforum.net/mag/events/biogen-scoops-prestigious-industry-award-for-spinraza)

I’m not a scientist and may not have this entirely correct but this is my understanding. SMA is a condition where the body doesn’t produce enough proteins to allow the motor neurons to work properly. It means the message doesn’t get through properly to the muscles to make them work. The proteins are supposed to be made by what is called the SMN gene but it just doesn’t work properly. However the body has a back up gene, a bit like an understudy, but this can usually only produce about 10% of this protein. Spinraza allows this back up gene to produce more of the essential proteins meaning the motor neurons work better so giving more strength to muscles.

It’s impossible to try and predict what will happen for those being given spinraza. Certainly the initial trials have shown that the very young children with SMA type 1 are not just exceeding life expectation but meeting many of their developmental milestones.

So what does this all mean for Anna? Certainly it means a lot of invasive medical treatments and general anaesthetics, neither of which Anna is keen to have. There are possible side-effects and many trips to hospital. But potentially it could give her more strength. More strength in ways that she may not recognise at the moment but which are so important now for her future. More strength in her lungs which means that respiratory infections don’t have to become life-threatening. More strength in her spine to hold herself upright and possibly delay or even prevent the development of scoliosis. And more strength to allow her to do the day-to-day things that we all take for granted – pull a tissue out of the box, take the lid off a pen, wipe a glue stick across a piece of paper or similar apparently trivial actions but so important in terms of her independence and quality of life.

We are truly grateful to all those in the SMA community who have fought for this and there is excitement as we start this new journey.

I’ll keep you all updated

Ann Marie

X


One response to “Spinraza – approved!

  1. Hazel says:

    What amazing and encouraging news! X

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