Several weeks ago, the story of a baby boy called Rasheed went viral on social media when his parents sought assistance from the government to help provide the treatment of their son’s rare disease: Spinal Muscular Atrophy (SMA). The treatment is an injection that costs USD 2.1 million, which is equivalent to around EGP 35 million! The parents were desperate as the injection should be taken before Rasheed reaches his second year and they just had four months to go. Many campaigns and hashtags were launched on social media to help collect this huge amount needed to get the injection. Not only did these campaigns help Rasheed’s family get the money, they also helped raise awareness about this disease. So, what is this disease and why is its treatment so expensive?
SMA is a rare genetic disorder that affects nerves and muscles due to a mutation in a gene called “Survival Motor Neuron 1 (SMN1)”, which is responsible for the production of a certain protein needed for the motor neurons to work normally. In case of the deficiency of this protein, the motor neurons break down and the brain stops sending messages that control the muscles. Normally, a child gets a copy of the SMN1 gene from each parent; if the child develops SMA, this means that s/he inherited two damaged copies, one from each parent. If a child inherits only one affected copy, s/he will not develop SMA, but will be a carrier of the disease and can pass it down to their children later on.
This disease causes the body muscles to become increasingly weak, damaged, and can waste away at the end, affecting the child’s movement, breathing, swallowing, and feeding. There are many types of SMA; symptoms and complications vary according to the type. The age at which the symptoms start to appear indicates how severe the condition is. The rarest and most severe type is the one that develops while the mother is still pregnant; these babies are usually born with joint problems and do not survive due to difficulties in breathing.
Another type of SMA affects children ageing 6-18 months; symptoms vary from moderate to severe and usually the legs are affected more than the arms. There is also a rare form of SMA that develops in adults, usually affecting the upper arms and legs. These symptoms can continue throughout life, but can improve with exercises and physical therapy.
Unfortunately, there is no identified medication that completely cures patients; however, there are treatments that manage the development of the disease and its symptoms and complications. Physical and nutritional therapies can help patients thrive through the disease, but in some severe cases, these therapies will not work for long. Yet, one of the treatments used is called gene replacement therapy, which targets fixing the causes of the disease.
Said medication is a one-time intravenous infusion that should be received before the age of two. This treatment will send a copy of the SMN gene into a specific group of motor neuron cells. Studies showed that children who received this treatment before the age of two reached certain developmental milestones faster, like controlling their heads, or sitting without support.
The medication’s high price reflects the value it delivers, as gene therapies represent a medical breakthrough in the way they offer hope of a cure for rare genetic diseases. According to the CEO of the manufacturing company of the medicine: “It dramatically transforms the lives of families affected by this devastating disease”. It takes an average of USD 2.6 billion and a very long time to create a new drug. Moreover, the rate of failure is high, so manufacturers rely on successful approved drugs to regain their investments.
Since Rasheed’s case gained so much attention, the good news is that the Egyptian President has launched an initiative in June 2021 for early detection of genetic and hereditary diseases, including Spinal and Muscular Atrophy. Moreover, the government will bear the expenses of the treatment of SMA patients in cooperation with the Long Live Egypt (Tahya Masr) fund. In fact, another baby girl named Layal received the treatment through this initiative recently.
References
healthline.com
webmd.com
curesma.org
ahram.org.eg
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