Science has made breakthroughs and opened possibilities that were not known to man before. However, parallel to the complexities of nature, science is still way behind. There are so many complicated issues and situations where even the existing innovations of technology and science are rendered futile. The human body is not as simple as it may be perceived to be. There are so many intricate details and connections that make it functional and even one loose or skipped connection can lead to hazardous consequences.
Recently, a 10-month-old baby’s life was endangered due to a spinal complication. This is called Spinal Muscular Atrophy (SMA). This is a disease that stays with the patient for all his or her life and restricts the patient in numerous ways. This disease with the baby is of the same nature. In fact, the disease reduced his life expectancy to only two years.
The baby’s mother, Megan Willis, could not tolerate this tragedy and began to rally for any remedy she could find. Luckily, there is a gene therapy, still, in its initial phases of the trial, that could delay the onset of disease and increase his life expectancy. However, the solution was not approved by the NHS at that time.
The mother had accepted the word of the doctors and was complacent on the decision of nature. But it was when she read and researched the topic of Spinal Muscular Atrophy, she found out that the disease was not entirely avoidable. There was a way to treat the disease, partially, if not entirely. She came to know that the earlier the disease is caught and treated, the later the symptoms appear and the less intense is the disease. She began rallying for the approval of the mechanism as each day counted because delays would mean a more intense onset of the disease.
The baby’s name is Edward, and the drug, Zolgensma, is now approved for children below the age of six months. Above this age, doctors will discern the treatment. The mechanism behind the working of the drug is that of true gene therapy. It is injected and it provides a functional copy of the SMN1 gene which undergoes mutation in this disease. this is further aided by the serotype 9 adeno-associated virus (AAV9) which has the cDNA gene. This therapy that comprises one injection costs around 2.1 million euros which is equal to 1.79 million pounds. These costs make this the most expensive drug approved by the FDA and the NHS.
