In February 28, 2017, the tenth &ldquo came into being. The international rare disease day ” the theme of this year is “ let the research bring infinite possibility ” (With research, possibilities are limitless). Along with the social from all walks of life to 10 years of hard work and dedication, more and more people understand the &ldquo rare disease; ” pharmaceutical enterprises, the layout of &ldquo more and more; the orphan drug market, ” precision medical technology more and more to promote the diagnosis and treatment of “ ”, more and more doctors to pay more attention to “ joint multidisciplinary ” … …

If you are sick, the doctor can't diagnose the disease type … …

If the doctor is able to make a diagnosis, it says that the existing medical technology can not be cured, even the drug &hellip that is not available in Yudu; …

If you don't know how the disease will get worse, you don't know how to deal with the future life … …

If all the problems have no answer, what are you?

Unfortunately, these “ if ” not assuming that they are true and true to the fact and status of a kind of person. They are rare patients, a group of special groups that are not known by ordinary people and even recognized by small probability events.

Recognition of rare diseases

The rare disease is also called “ the orphan disease is ” it is a disease that is very low and is very rare. According to the definition of WHO (WHO), a rare disease refers to the prevalence of the number of total population 0.65‰ ~ 1‰ diseases, such as hemophilia, porcelain dolls, albinism, Gaucher disease, amyotrophic lateral sclerosis … … rare diseases have been identified worldwide about 6000-7000, accounting for about 10% of human diseases, including more than 80% belong to the genetic disease. But only 5% of the rare diseases have approved treatments, and less than 20% of the countries in the world have legislation on rare diseases.

Attention to international rare day

The last day of February is “ the international rare disease day ” (Rare Disease Day), which is the European Organization for rare diseases (EURODIS) since February 29, 2008 the anniversary (set down only once every four years, meaning, rare) to promote the social public and the government of rare disease and rare disease groups facing the problem, called on all parties to actively strive to overcome this rare disease mankind public health problem.

February 28, 2017, ushered in “ the tenth international rare disease day ” The theme of this year is &ldquo. Let research bring infinite possibility ” (With research, possibilities are limitless) aims at guiding human beings to identify unknown diseases and increase their understanding of diseases.

Only by knowing and analyzing the unknown can we overcome and solve the unknown. How to treat rare diseases? More research work needs to be put in. The study can help doctors give patients a correct diagnosis and provide disease information to the patients. The research can promote the development of innovative therapies and even cure methods, early on the case and the end of the disease.

Understanding of rare diseases

Acromegaly

Acromegaly is a rare disease worldwide, 60 of the population per million people are affected in effect. But the latest research shows that the number of affected by acromegaly per million population could be as high as 115~295. As the name suggests, by acromegaly overgrowth of hands and feet, and special features to recognize faces.

Excessive secretion of growth hormone and insulin-like growth factor -1 level for more than half of the patients with acromegaly caused very big

Harm：

.

Chronic myeloid leukemia (CML)

Chronic myelogenous leukemia (CML) is a kind of cancer that occurs when the hematopoietic stem cells in the bone marrow make too many white cells, including immature cells. Most of the CML patients are in the early and chronic stages, and many patients will be in the chronic phase for many years and not further develop to the late stage.

Myeloproliferative tumor (MPN)

Myelodysplastic tumor (MPN) is a rare group of hematologic malignancies. It is usually referred to as polycythemia vera (PV), primary myelofibrosis (MF) and essential thrombocythemia (ET). MPN causes various symptoms, such as fatigue, night sweats, bone / joint pain, and so on. If these symptoms are not monitored and treated in time, it may lead to serious problems. When MF and PV occur, the disease progresses very quickly and eventually threatens life.

Renal cell carcinoma (RCC)

Renal cell carcinoma (RCC), called renal carcinoma (RCC), is a mass or tumor occurring in the inner layer of the renal tubule. Renal cancer accounts for about 4% of the total number of new cancers worldwide, accounting for 90% of the renal cancer. Most of the diagnosed patients are older, and the prevalence rate of men is two times more than that of women. If it is not treated in time, the renal cancer can turn to advanced or metastasize, which means that the cancer cells spread to the organs outside the kidney. It is estimated that more than 30% of the patients have advanced or metastasize at the time of diagnosis.

Neuroendocrine tumor (NET)

Neuroendocrine tumor (NET) is a rare cancer that originates in the whole body of neuroendocrine cells, the most common in the gastrointestinal, lung, or pancreas. In the United States, an average of 5.25 people are diagnosed with NET in 100 thousand people a year. NET is divided into two categories: functional and non functional. Functional NET is characterized by excessive secretion of hormones and other substances. Non functional NET is a symptom caused by tumors.

Thalassemia

Thalassemia is a group of hereditary hemolytic anemia, which is the most common hereditary disease. Around the world, about 68000 children are born with thalassemia every year. Iron overload caused by chronic iron overload or frequent blood transfusion is the most common complication of thalassemia. Because the body can't remove excess iron, excessive iron can be deposited in the heart, liver and lung and other organs, and cause serious complications.

Precision medical — — the main treatment model for future rare diseases

In the past, in addition to prevention of rare diseases, only a small part of the disease could be treated with compensatory treatment, and the minimal part could be alleviated or even cured.

Now, from gene sequencing, gene therapy, immunotherapy to stem cell therapy, the progress of life science has provided opportunities for more rare diseases, from the initial ignorance to the present, which is preventable, treatable and even curable. Many people believe that precise medical treatment based on gene sequencing, mass spectrometry, and information analysis is the future “ a rare disease ” the main treatment model.

Rare diseases need more precise diagnosis and treatment, because even for the same genetic disease, there are many genre types, which means different treatment and nursing strategies. Rare diseases are extreme manifestations of basic diseases. For those few cases, they are typical precision medicine, which helps to improve the understanding of human disease mechanism and help to find potential new therapies.

Every life has a lot of possibilities, including rare diseases.

On the occasion of the 2017 international day of rare diseases

Let us pay attention to it

Put up a beautiful world for patients with rare diseases

Doctors enjoy “ rare disease care plan ” contain

Outpatient treatment and doctor costs

All treatment, examination, bed, medicine, &middot, nursing and other expenses during the period of hospitalization

Emergency room cost

Inspection costs (including PET-CT scan/MRI)

Medications, targeted drugs, and immune drugs (including the latest immune drugs approved by FDA)

The annual cost of treatment is only $100 thousand