I suffer from the world ’ s most beautiful disease - and also the most expensive to treat
By Antonio J . Pérez Pulido
My name is Antonio and I suffer from spinal muscular atrophy ( SMA , for friends ). My life expectancy was only a few years when I was born , almost half a century ago . And all because I “ got ” a rare , neurodegenerative disease , which is among the genetic diseases with the highest associated mortality .
What happens , simply put , is that my motor neurons
( the “ cables ” that link the spinal cord to the muscles ) gradually degenerate and end up dying . This has kept me in a wheelchair for most of my life . And over time , the involvement of the respiratory muscles can lead to the fatal outcome .
But since I am also a scientist , I must add that I have discovered that SMA is the most beautiful disease in the world … at a molecular level .
How does spinal muscular atrophy occur ?
SMA is a genetic disease caused by the mutation or loss of a gene called SMN1 . If our mother and father have a mutated copy ( one of two copies each ), and we are unlucky enough to inherit these two defective copies , we are likely to get SMA .
This gene contains the information to guide the
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