#savepunarvika

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What is SMA : Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect motor neurons.  Motor neurons are specialized nerve cells in the brain and spinal cord that control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity, including muscles used for speaking, walking, swallowing, and breathing. The skeletal muscle weakness caused by SMA is often more severe in the trunk (chest) and upper leg and arm muscles than in muscles of the hands and feet. People with SMA experience respiratory infections, scoliosis, and joint contractures (chronic shortening of muscles and tendons). 

The most common form of SMA is caused by changes in a gene known as the survival motor neuron gene 1 (SMN1). Traditionally, there are five types of this form of SMA, which are classified based on the average age of onset and severity of symptoms. The traditional classification of SMA caused by problems with the SMN1 gene include:

Type 0 is a very rare and severe type of SMA with symptoms beginning prior to birth.  At birth, the infant has severe weakness and difficulty breathing and feeding.
Type l (also known as Werdnig-Hoffman disease or infantile-onset SMA) is the most common form of SMA. It is usually evident before 6 months of age. Symptoms include severe muscle weakness and trouble breathing, coughing, and swallowing. 
Type ll is usually first noticed between 6 and 18 months of age. Children with this type of SMA can sit without support but are unable to stand or walk without help. 
Type lll (also known as Kugelberg-Welander disease) shows symptoms after 18 months of age. Children can walk independently but may have difficulty doing so. They may also have trouble running, rising from a chair, or climbing stairs.
Type IV develops after 18 years of age. Symptoms include mild to moderate leg muscle weakness and other symptoms.

There is a gene very similar to SMN1 called SMN2, which may be present in multiple copies.  Although the SMN2 gene makes much less of the SMN protein than the healthy SMN1 gene, extra copies of the SMN2 gene are associated with the less severe forms of SMA (Types II-IV). 

Treatment : The "16 crore injection" refers to Zolgensma (onasemnogene abeparvovec), a one-time gene therapy used to treat Spinal Muscular Atrophy (SMA). SMA is a rare genetic disorder that destroys motor neurons, leading to muscle wasting, respiratory failure, and often death in infants before age two if left untreated. 

Why the price is 16 cr : Its high price, which ranges from ₹16 crore to ₹18 crore ($2.1 million) in India, is driven by the following factors: 

1. Complex Gene Therapy Technology 
Unlike traditional medicines, Zolgensma is a revolutionary gene therapy. It uses a viral vector to deliver a functional copy of the missing or defective SMN1 gene directly into the patient's cells. This single-dose infusion addresses the root cause of the disease rather than just managing symptoms. 
2. High Research & Development (R&D) Costs
The development of gene therapies involves years of cutting-edge genetic engineering, extensive clinical trials, and multi-billion dollar investments. The manufacturer, Novartis, acquired the developer (AveXis) for $8.7 billion in 2018, a cost that is factored into the final pricing. 
3. Extremely Small Patient Pool (Orphan Drug) 
SMA is a rare disease affecting approximately 1 in 10,000 live births. Because the number of patients is so small, pharmaceutical companies must spread the massive development and manufacturing costs across a very limited number of doses to remain viable. 
4. One-Time Treatment vs. Lifetime Costs
While the upfront cost is astronomical, it is a one-time treatment. Other SMA treatments, like Spinraza or Evrysdi, require lifetime administration and can cost several crores every year. Over a 10-year period, these chronic treatments can exceed ₹40 crore, making Zolgensma more cost-effective in the long run. 
5. Import and Tax Factors in India 
Zolgensma is not manufactured in India and must be imported from the US. In many cases, the final cost in India has included nearly ₹6-₹6.5 crore in import duties and GST, though the Indian government frequently waives these taxes on humanitarian grounds when families request assistance. 

Who : Punarvika’s father, M Suresh, who runs a small hair-cutting shop in Veldurthi, shared his emotional struggle.
“I earn my livelihood through a hair-cutting shop. I have a wife, a son and a daughter. My daughter’s name is Punarvika. Doctors detected complications while she was still in the womb. We decided to wait until delivery and assess the condition. Later, we were told it was a very rare disease requiring extremely expensive treatment. That is why I appealed to donors for help,