According to the Southern Daily on February 28, February 26, the Lantern Festival, the weather began to turn cloudy at the first warming in the south. In the pediatric ward of Maoming People’s Hospital, 31-year-old Du Jia was slightly relieved that her 10-month-old son “rice grain” finally had his pneumonia under control and could be discharged Home. This Spring Festival, the family spent in the hospital. With every common lung infection, Du Jia’s family was in danger because “Rice” has a recessive genetic disease similar to acromegaly but more serious –Spinal muscular atrophy (SMA for short). With no ability to cough up sputum due to weakness of the respiratory muscles, a small blockage of sputum can be fatal.
Last April, with the specter of a new Epidemic looming over the population, the arrival of their second child, “Rice”, brought hope to Du Jia and her husband. When she was first born, she was very smiley, with big eyes that were always looking around, very pleasant. However, from the third month onward, Du Jia found that the baby was not moving, her limbs were weak, her breathing and swallowing abilities were diminished, and her cries were not as loud as they had been at first.
After ruling out cerebral palsy and other diseases, Du Jia followed the doctor’s advice and took her child to Shenzhen for genetic testing. During the waiting period, she learned through online research that SMA is a rare disease with gradual loss of motor neurons, but she always took a chance, thinking that her family would not encounter a one-in-a-million chance. When the SMA diagnosis was confirmed, Du Jia felt that the sky was falling. She asked the doctor if the disease was curable. The doctor simply asked her, “What do you and your husband do for a living?
At that moment, Du Jia realized that this disease should cost a lot of money. 29 October 2020 was a day that Du Jia will never forget. At Shenzhen Children’s Hospital, she and her husband were carrying 11 bank cards, which included not only their own savings and loans, but also their Parents‘ pensions, provident funds, loans from relatives and friends, and even 30,000 yuan of savings saved by their 90-year-old grandmother throughout her life. The couple shed tears while swiping the card, and the pharmacy representative on the side couldn’t help but follow the tears. A total of 699,700 yuan was swiped, from an ordinary family with an annual income of less than 100,000 yuan.
“If the child lives, there is hope! ” said Du Jia. This is the stubbornness of a mother of a child with SMA. Nocinasana injection is the world’s first SMA precision-targeted therapy drug, approved for domestic marketing in 2019. While bringing a ray of hope to children with SMA, the price of 699,700 yuan per injection has set a new record for Chinese drugs. Six injections are given in the first year, and three injections are given annually thereafter for life.
It is worth noting that the above misfortune has befallen other families as well. Last January, according to Beijing Daily, on June 18, 2019, Ms. Liu, who lives in Weifang, Shandong Province, gave birth to a pair of dragon and phoenix fetuses, and before the children came out of the full moon, she and her husband found that her sister’s limbs were moving abnormally slowly, and her tongue often stuck out and kept trembling. “The child is dull, crying when only lying there straight, and will not turn his head. “Ms. Liu hurriedly took her child to a hospital in Jinan for an examination, and the result confirmed the diagnosis of spinal muscular atrophy (SMA). This is a motor neuron disease that causes muscle weakness and atrophy, a rare disease that is the number one genetic disorder causing death in infants and children under the age of 2. The earlier the age of onset, the more severe it is, and little Shuyu is suffering from the most severe type I, which develops right after birth.
“It was like a bolt from the blue. At the Time, I simply could not believe that no one in our family had ever had this disease for generations. ” Ms. Liu said in tears. After the disease, little ShuYu gradually lost the ability to move, breathing, swallowing difficulties, now 7 months old but only 11 pounds, but also easily suffocated due to phlegm blockage. Ms. Liu bought a respirator, coughing machine and other equipment, every day at home for the child to shoot phlegm, suction, nebulization, six months did not sleep a full night.
However, the parents’ careful daily care did not stop Xiao ShuYi’s condition from deteriorating. On the night of January 5, 2020, her condition worsened again, with a high fever and respiratory distress, and her anxious parents took her in an ambulance to Beijing, where she was admitted to the intensive care unit of the Institute of Pediatrics the next day after a six-hour drive. “The doctor told us that the child’s condition was stable for the time being, but to really get better, we had to use Medicine right away, and the sooner we used it the higher the possibility of a cure. “
There are currently medications available for Xiao ShuYue’s illness. Shortly after the child became ill, Ms. Liu and her husband joined the patient group at the Beijing Meier SMA Care Center and learned that medications for SMA are available in China. “It is available in pharmacies, 5ml a shot, selling for about 700,000 yuan, and the earlier the drug is used, the higher the possibility of cure. “, “I consulted a patient whose child is two years old and has lost the ability to swallow for more than a year. After the medication, breathing and swallowing have improved, and now the child can swallow things by himself. “However, the high cost of the medicine made Ms. Liu’s family see hope while falling into deep despair and self-doubt. “Now there is medicine, the hope of life is at hand, but I can not save my child, I am sorry for the child, if she was born in a wealthy family, perhaps now has recovered. “
Ms. Liu and her husband are from a rural family, the two of them do not have their own house, and their monthly wages from working outside add up to only a few thousand dollars. Since the child’s illness, the family’s savings have been little left. In order to buy a ventilator and a coughing machine for the child, they raised money once on the Waterdrop platform and received a total of 90,000 yuan, of which 50,000 yuan was spent on nursing equipment and 8,000 yuan on an ambulance, and the remaining 30,000 yuan was spent on hospital fees after the child was admitted to the intensive care unit. Now we both have only a few hundred dollars on us. “Since coming to Beijing, Ms. Liu and her husband every day steamed buns on hot water, occasionally buy some of the cheapest cabbage, eggs, meat can not eat,” the child in the hospital, every day The child is in the hospital, the daily cost of several thousand dollars, can save a little to the child is a little. “
This year, an oral drug from Roche is expected to be marketed in China, which has become a new hope for Ms. Liu, “This drug is much cheaper than Nocinasan sodium injection, which only costs 20,000 to 30,000 per month.
According to CCTV news, rare diseases are a public health problem faced by all of humanity. Due to the low overall incidence of rare diseases, the small amount of drugs used, and the small market, patients with rare diseases often face many challenges – difficulty in diagnosis, nowhere to buy drugs, either more expensive drugs, etc.
Although the prevalence of a single disease is usually less than 1 in 2000, there are about 7,000 rare disease types, and the number of rare disease patients still reaches about 350 million worldwide. In China, there are also about 20 million patients who are struggling with rare diseases.