700,000 to 30,000 days savior "Xia Fan" Children with spinal muscle atrophy in Luzhou, Sichuan ushered in a new life

Huang Li Cover Journalist Jiang Yuen

Recently, the Affiliated Hospital of Southwest Medical University has successfully completed the first lumbar spine puncture and the internal injection of Nosine sodium injection for a two -year -old child with spinal muscle atrophy. The internal injection is treated with SMA children.

It is understood that spinal muscle atrophy is a rare genetic neuropathy. It is the main genetic disease killer that causes the death of infants and young children. Nosnina sodium injection is a precise treatment drug for the rare disease. However, by 2022, the price of a dose of Nosina sodium injection is as high as 700,000 yuan. Today, the drug enters the new version of the medical insurance drug catalog for 33,000 yuan per shot. The family brings the dawn of hope.

Two -year -old boy suffers from rare disease

Need to "modify" genes

When children of the same age can jump up and down, Xiaoming's parents found that his son in October in October was still slow, and the ladder and gait on the steps were different from ordinary people. The family was full of worries, and took Xiaoming to the hospital, and conducted regular rehabilitation treatment of Xiaoming. But after treatment, Xiaoming's symptoms still did not change significantly.

In July of this year, after improving genetic testing and electromy diagram, Xiaoming was finally diagnosed with "type III" in "spinal muscle atrophy". This news is like a thunderbolt. On August 10, the family took Xiaoming to the Affiliated Hospital of Southwest Medical University. A comprehensive evaluation was conducted, and actively communicated with the Ministry of Pharmacy to complete the drug procurement at the fastest speed.

According to reports, the accurate treatment drugs for spinal muscle atrophy are currently Nosina sodium injection. It is the world's first approved spinal muscle atrophy genetic shear regulation and regulatory drug. Pen". Through the injecting of the sheath, the drug can be delivered directly to the cerebrospinal fluid around the spinal cord, thereby improving the exercise function, improving the survival rate, and changing the disease process of spinal muscle atrophy.

On August 11, the Affiliated Hospital of Southwest Medical University successfully completed the treatment of Xiaoming's lumbar spine puncture and the internal injection of Nosine sodium injection in the sheath. In the early morning of the 13th, Xiaoming was discharged smoothly on the early morning of the 13th. According to Dr. Chen Tao, Xiaoming still needs to be treated regularly, and returned to the hospital to receive the in -sheath injection in the sheath injection.

The state helps "sky -high medicine" to reduce the price significantly

Patients with rare diseases see the dawn

Solid muscle atrophy is a rare genetic neuromuscular disease. The mutation of motor neuron survival gene is the main cause of the disease and the main genetic disease killer that causes the death of infants and young children. The main manifestations are the muscle weakness and muscle atrophy of muscle weakness and muscle atrophy of the limbs. As the disease progresses, muscle weakness can further lead to abnormalities in the skeletal system, respiratory system, digestive system and other systems. Common causes of death.

In 2018, the movie "I'm Not the Medicine God" was all over the country. In the film, in the face of 40,000 yuan per box and a targeted medicine of 300,000 yuan a year, Gleevec, many patients with slow leukemia can only be used to sell iron to maintain their lives. However, compared with targeted drugs for treating chit leukemia, the price of precision therapeutic drugs of spinal muscle atrophy, Nosina sodium injection, is even more "sky -high".

It is understood that the drug was officially approved in China in 2019 and priced at 699,700 yuan. The parents of the children were called "savvy medicine". If patients are treated three times a year, this medicine will spend more than 2 million per year. What's more terrible is that patients are facing long -term medication costs. Therefore, for most ordinary people, once there is this disease, there is almost only one choice: give up.

In December last year, the national medical insurance and drug negotiations "soul bargaining" appeared on the hot search. In the one and a half hours of negotiations, the company's negotiating representatives conducted 8 discussions. After the efforts of the medical insurance negotiating representatives The Nosna sodium sodium injection of the sexy muscle atrophy finally dropped from 53680 yuan to about 33,000 yuan, and the decrease was nearly 40%.

In this national medical insurance catalog negotiation, 7 rare medical drugs were included in the medical insurance directory. The world's first precision targeted treatment drug for the treatment of rare diseases, and Nosnina's sodium injection was officially included in medical insurance.

On January 1 this year, the new version of the medical insurance drug catalog was officially implemented. After the final cost of the Nosnina sodium sodium injection was reimbursed by the medical insurance, the patient only needed to bear more than 10,000 yuan. The tortured child and family brought the dawn of hope.

Doctors of the Affiliated Hospital of Southwest Medical University suggested that genetic testing is a gold standard for diagnosis of spinal muscle atrophy. For patients with typical clinical manifestations, genetic testing should be performed as soon as possible. "Although the road of rare illness is long, we do not give up every small group of society. The disease can be rare, but it is not uncommon for caring."

- END -