SMA - a community of diversity, collaboration and unity

SMA is a disease that wears many different faces - there are different types with different levels of severity. At its heart is a diverse community of passionate, resilient people. They could teach us all a thing or two about the human condition, community and living life to the full.

Let’s take SMA My Way , a living resource of ‘life hacks’ that Roche partnered with members of the community to create for people living with SMA. You cannot fail to be impressed by the SMA My Way Champions , pictured above. Martyn who champions inclusion of disabled people and has been in more TV studios than most of us. Karli who is a polymath. Louise’s love of fashion. Florá and Pia who each parent a child living with SMA, hike and horse ride. All work tirelessly to connect with the community, provide support and ensure no one ever feels alone.?

SMA Europe is a non-profit umbrella organisation of SMA patient organisations across Europe. Their ultimate goal is to create a better world for all those living with SMA, and SMA has many faces. That is why, for this year’s campaign ‘Do You Know Us’ , the team brings us the stories of 11 different people living with SMA. Would it surprise you to hear that they include a globe-trotter, a journalist, an artist and a baby girl who received her passport when she was only 10 days old?

It’s estimated that 1 in 10,000 babies are born with SMA and it is the leading genetic cause of infant mortality.?

Because of a genetic mutation, people living with SMA can’t make enough of a protein that is essential to the functioning of motor neurons, the cells in the spinal cord that allow the brain to communicate with our muscles. Muscles that affect movement, swallowing and breathing. Without treatment, these nerve cells degenerate over time, leading to muscle weakness, loss of movement and sadly, even death.?

To protect muscle function, independence and quality of life, the earlier SMA is detected and treated the better. SMA Europe is at the heart of the SMA Newborn Screening Alliance , which campaigns for SMA to be added to the routine heel prick test that newborn babies undergo in Europe.?

Thirty years ago, scientists pinpointed disease-causing mutations in the SMN1 gene. Today, genetic testing and targeted medical approaches are transforming outcomes for people living with SMA. Roche is incredibly proud to be part of the vibrant, diverse SMA community and a contributor to the advancing medical landscape that serves them.?