Why aren’t children and adults with rare disease getting access to treatment, this is a good question. Miles was diagnosed with the disease when he was just 13 months old. His parents knew that something was not commonplace, because he had not started to crawl and seemed to be weaker than any other child. Without treatment, the course of SMA is a progressive deterioration of motor neurons. Mobility and motor function are lost.
SMA is the number one genetic killer in infants under two year
Progress in research
Researchers knew for more than a decade that SMA was caused by a genetic mutation of the SMN-1 gene. They also knew that there was a second, inefficient partner gene called SMN-2 that was almost identical.
The breakthrough in the treatment of SMA came in 2016.
Spinraza from Biogen was launched on the marked. A drug that successfully turn SMN-2 into a working version of SMN-1.
So far, there was no drug that could slow the disease.
Nevertheless, the therapy is not available to everyone
Germany has exemplary access to treatment
Adults, children have access to the Spinraza treatment. There is no age limit or discrimination due to age
This is SMA, this is Spinraza treatment