The last day of February every year is World Rare Disease Day.
In fact, rare diseases are not uncommon. Although the number of people affected by each rare disease is not large, the total number of these rare diseases is still a relatively large group.
According to the World Health Organization, there are more than 7,000 rare diseases known worldwide, with more than 400 million patients, 80% of which are caused by genetic defects.
The number of rare disease patients in my country is also quite large, and the current number has reached more than 20 million.
Rare diseases, what are they?
In our daily life, we always hear the names of some very fairy-tale diseases, such as ALS, Porcelain Doll Syndrome, Sleeping Beauty Syndrome, Alice Sleepwalking Wonderland, Progeria, Werewolf, etc.
And in fact, behind these beautiful names, it means that patients are destined to be “different” when they come to this world. Such situations make them have to face it.
Why does this happen?
Due to the rapid progression and high mortality rate of rare diseases, less than 10% of diseases can be improved with effective treatment. So far, almost no rare disease can be cured.
And because there are fewer patients with rare diseases, their treatment prices are generally higher, such as Gaucher disease (a rare autosomal recessive genetic disease), patients need to inject 2 per month -3 times of medicine, and the price of each medicine reaches 23,000 yuan, and as the body weight increases, the dosage also increases, and the medicine needs to be taken for life.
Therefore, such a disease is an unbearable burden for an ordinary family.
What are these rare diseases?
We have selected some representative diseases, through which we can get scientific understanding of rare diseases:
Enable more “orphan drugs” to enter health insurance
According to the “2019 Comprehensive Social Survey Report on Rare Disease Patients in China”:
About 70% of doctors do not understand the basic treatment of rare diseases, resulting in 42% of rare disease patients are misdiagnosed, and 40% of rare disease patients are diagnosed for up to 1 year above.
The most important thing is that at present, most of the drugs for rare diseases in my country are imported. Not only is the price unaffordable, but also whether they can be bought is a problem.
Fortunately, with the attention of the National Health Commission and the whole society, more and more “orphan drugs” have also entered the national medical insurance, reducing the financial burden of some rare families to a certain extent.
Up to now, more than 60 rare disease drugs have been approved for marketing, and more than 40 rare disease drugs have been included in the National Medical Insurance Drug List……..
Among the drugs for rare diseases newly included in the medical insurance, 2 were originally high-value drugs, the so-called “high-priced drugs”.
I believe that with the efforts of the country and the support of the society, the families of children with rare diseases will no longer be alone.
But we also call on the whole society to pay attention to rare diseases, and call on more professionals to devote themselves to relevant research and drug development, medical care and social security, so that “rare” can be used by more people “see”!
