According to a story from the Sydney Morning Herald, two-year-old William McLennan, son of Naomi Taylor and Ben McLennan, was diagnosed with spinal muscular atrophy about a year ago. The degenerative disease has caused him to lose his ability to walk and move much on his own, and without intervention, he would soon have trouble with speaking, breathing and swallowing. There is only one truly effective treatment for spinal muscular atrophy, and at the time, its extreme price meant that it was impossible for the family to afford.
Spinal muscular atrophy (SMA) is a genetic disorder that is characterized by the death of the neurons responsible for movement, accompanied by progressive muscle wasting. In its most severe forms, the disease leads to an early death. The condition is caused by a defect in the gene that is responsible for the SMN, a protein that is expressed in cells throughout the body and is necessary for their survival. People with spinal muscular atrophy do not express this protein in sufficient concentrations. The muscles of the upper arms and legs, as well as breathing muscles, are affected first. Spinal muscular atrophy is the most common genetic cause of death in infancy. To learn more about spinal muscular atrophy, click here.
SMA type two, which William has, is not the most severe form of the disease. This means that effective treatment will be essential in determining how his SMA progresses. In some people with type two, the disorder continues to progress, but it can be slowed significantly with careful management. The only effective therapy for SMA is a drug called Nusinersen (brand name Spinraza). It is the only drug that has been approved specifically for treating SMA.
The drug has generated controversy due to its extreme price. In the U.S., a single dose of treatment costs $125,000. Some countries have approved the drug and cover it under their health systems, but some have been hesitant, saying that the benefits do not justify the price. This was also the situation in Australia, were William and his parents live.
As a result, Naomi and Ben were initially forced to watch their son’s health deteriorate, knowing that the only way to help him was simply too costly to pursue. However, just last week, the Pharmaceutical Benefits Advisory Committee (PBAC), which is responsible for recommending new drugs to be covered under Australia’s health service, reversed their prior decision and recommended to cover the drug for patients.
