According to a story from mirror.co.uk, a five-month-old girl named Maryam Malji was diagnosed with spinal muscular atrophy, a progressive, degenerative disease that is ultimately fatal without treatment. Her brother Abdullah was born with the disorder as well, and participated in a clinical trial for a drug that ultimately got approved for treating the disease. Abdullah unfortunately died from an infection, but it was clear that the drug he was using, called Spinraza, was helping him. However, the drug hasn’t been cleared for coverage on the NHS, meaning that anyone who wishes to use the drug in the UK has to pay out of pocket.
About Spinal Muscular Atrophy
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.
Maryam’s Story
Maryam’s father Shakil does not want to lose his daughter, but the family can’t afford to pay the extremely high price that Spinraza goes for. The situation is particularly bitter since this is the same drug that worked so well for Abdullah. Spinraza is currently not approved for coverage on the NHS because health officials say that the impact of the drug isn’t worth the price tag, but when a family member may have only months to live without it, it’s not possible to agree with that assessment.
Shakil now feels that his son was used by Biogen, the company that helped develop the drug, especially since the family haven’t gotten any help getting access for Maryam. The family’s MP, Lyn Brown, has learned of the family’s situation and is working to reach out to Biogen and regulators to get Maryam access to the drug.
A petition to allow Maryam access has been signed by over 200,000 people. If you would like to add your own signature, click here.
