MadisonHeader

Just the other day, I realised I could open the fridge again…I can see what I want for lunch, by myself.

Published 15 August 2019

Madison is 16 years old and like many teenagers she enjoys hiking, spending time with friends and going to the movies. Madison also has Type 2 Spinal Muscular Atrophy (SMA).

Each morning her parents or caregiver help her dress, transfer to her electric wheelchair and prepare breakfast. Madison goes to school locally in Phoenix, Arizona, where she can show her friends and classmates that even small changes can help her to participate more fully in classes.

Hear from Madison and her parents

 

For Madison, remaining independent and doing things separately from her parents matters. Like many people with SMA, over time she has lost some movement in her arms and hands, and has become more reliant on those around her to help with everyday activities.

Without treatment, loss of movement for people with SMA is common as the disease progresses, and doctors use a variety of scales to track progress, both in clinical studies and clinical practice. To learn more about our work and research on measurement scales that are relevant in SMA click here.

Conversations with people with SMA and their families highlight the need for a sensitive scale that can be used to track small improvements or changes over time. The Motor Function Measure (MFM) scale achieves this with great accuracy, measuring small differences which can reflect life-changing improvements or deterioration.
 

MFM captures a broad range of activity from running to picking some objects. And it captures these different activities not only looking at whether you are able to do it or not, but also capturing if you do it with or without compensation.”
Professor Laurent Servais, Professor of Neuromuscular Paediatric Diseases and Head of the Neuromuscular Centre, Liège, Belgium

Hear more from Prof Servais on his experience with the MFM scale

 

The scale measures practical movements, and a three-point improvement to the score is so significant that doctors can see the difference with their own eyes. For example, a child who had to be pushed along on their bike by their parents, after showing an improvement on the MFM scale, was able to ride a bike on their own. This clearly has a huge impact on people’s daily lives.

The scale can be used to measure improvements in a broad range of people with SMA, from weaker to stronger patients.
 

It is possible to assess, for example, the ability to move arms, to make postural changes from the chair to another chair, or even more complex abilities such as walking and climbing the stairs. So, it is very important to have a unique instrument to assess both the weaker patients, the patients who are able to do very few things, but also the stronger ones, using the same and uniform assessment method.”
Dr Giovanni Baranello, Honorary Consultant in Paediatric Neurology/Neuromuscular Diseases, Great Ormond Street Institute of Child Health, London, UK

Dr Giovanni Baranello, Honorary Consultant in Paediatric Neurology/Neuromuscular Diseases, Great Ormond Street Institute of Child Health, London, UK

 

Josh and Maylan are both in their twenties. They have Type 2 SMA. For many young adults, their twenties are a time of self-discovery, self-expression and being fiercely independent. For Josh and Maylan it is no different – their SMA just means some small adjustments along the way.

Hear Maylan and Josh talking about their lives with SMA and what independence gives them

 

It is important, not only for doctors, but also for those living with SMA and their families, to be able to track even the slightest changes in their ability to move over time. No matter how severe a person’s SMA or what type they have, even small improvements to motor function can translate to a meaningful and significant change in their quality of life.
 

Tags: Science, Patients, Neuroscience, Rare-disease