According to a story from kentlive.news, Lucy Frost of Tumbridge Wells is doing everything she can in an attempt to get the NHS to provide her son with the medication he needs for his spinal muscular atrophy. It is the only way to prolong his life. Lucy, 38, says that her son George’s disease has gotten so bad that he doesn’t even have the strength to play with Legos.
About Spinal Muscular Atrophy
Spinal muscular atrophy is a rare disorder that affects muscle function. It is characterized by death of motor neurons and muscle wasting. This disorder is caused by mutations that affect the SMN1 gene. There are a variety of different types of spinal muscular atrophy which are distinguished by their severity and the age at which symptoms begin. Many of the most severe types can severely reduce lifespan. These symptoms include loss of reflexes, muscle weakness and low muscle tone, poor feeding, difficulty swallowing, tongue twitches, difficulty breathing, loss of movement and walking ability, and bell shaped torso. A lot of treatment for spinal muscular atrophy is supportive, but the drug nusinersen can halt the progression of the disease. To learn more about spinal muscular atrophy, click here.
George’s Only Hope
Lucy’s six year old son needs nusinersen (marketed as Spinraza). It is the only drug currently available that can keep him from dying an early death. He is one of about 1,000 patients in England and Wales who would benefit from using the drug. It is currently funded in 22 countries, including several in the EU.
Rejected For Coverage
Unfortunately, the National Institute for Health and Care excellence did not recommend that the NHS cover the drug in its most recent report. Its justification for this position was primarily due to limited data regarding the long term effects of the drug, as well as its extremely high cost.
Regardless, Lucy is now stuck watching her son’s condition continue to deteriorate. He has very little muscle strength left, and required breathing assistance. Lucy also helped found the organization TreatSMA, which advocates for expanding access to nusinersen. Through her work with the group, she sees that she is just one of many parents who are being forced to watch their children die. The organization will continue to push for the approval of nusinersen.
To learn more about TreatSMA, click here.
