According to a story from Radio NZ, two grandmothers have taken a central role in getting a petition delivered to the parliament of New Zealand. This petition is calling for the government to cover the use of Spinraza, a critical breakthrough treatment for a rare degenerative genetic disorder called spinal muscular atrophy. Pharmac, the agency that is charged with determining if a drug will be covered or not, deferred Spinraza’s application for coverage in late 2018. Pharmac is choosing to wait until data from two ongoing clinical trials testing the drug.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
Grandmas To The Rescue
One of the grandmothers in question is Janine Yeoman, whose two year old granddaughter Charlotte Bond has type 2 spinal muscular atrophy. This milder form will allow Charlotte to live into her adult years, but Janine is confident that treatment with Spinraza could substantially improve Charlotte’s condition. The drug, which is approved in Australia, the US, and many parts of Europe, is capable of halting the progression of spinal muscular atrophy. In fact, early treatment with the drug can allow patients to live relatively normal lives.
The other grandmother that is helping with the petition is Judy Lawrence. Her granddaughter Natalie was also diagnosed with the illness. She lives in Australia and uses Spinraza regularly. Natalie is 16 years old and has seen significant improvements.
“These young children’s motor neurons are dying and children could die in the time that we’re waiting,” Judy says.
While there are currently only 26 kids in New Zealand that have been diagnosed, their prospects of long term survival without Spinraza are precarious.