“Rare diseases” are a global public health problem. including Thailand Previously, it was a group of diseases that were difficult to detect due to lack of appropriate tools. But overall, there are not many patients. At present, there are approximately 400 million rare disease patients worldwide1, of which more than 3.5 million are in Thailand, but only 20,000 of them2 have been properly diagnosed and treated.
Takeda Thailand as a global biopharmaceutical company Continues to Raise Awareness to Promote Standards of Care for Rare Disease Patients one of the rare diseases Through the story exhibition “Gocher and the Magical Power of Secrets” as well as hear about advances in medical innovation that will improve patient care and treatment. for better quality of life of patients and families which is the hope of patients with thousands of rare diseases while one patient’s voice is an important link to other patients. And spread to the wider society to recognize their value and needs. In addition, within the event, there is also a flower arrangement workshop that will let you know that the flowers around you hide good meanings. to help create positive energy and relaxation for both patients and caregivers.
Mr. Peter Streibel, Managing Director of Takeda (Thailand) Co., Ltd. said, “Takeda is committed to its mission of pursuing better health and a brighter future for people around the world. through the development of innovative treatments that will promote a better quality of life The rare disease is one of the groups of diseases that we focus on. We work with public health agencies. medical organization Including a group of patient representatives to jointly support the creation of opportunities and equality for patients to access treatment and lead to a better future for the rare disease community.”
Prof. Dr. Worasak Choti Lersak Director of the Center of Excellence in Genetics Chulalongkorn University Said, “Each disease in the rare disease group has a small number of patients. But since there are more than 7,000 diseases in this group, there are many patients in total. This makes diagnosing rare diseases even more difficult. but nowadays There is a state-of-the-art tool called “Next Generation Sequencing” or “NGS”, which is a technology to transcribe the entire genome in a short time. This makes it possible to detect genetic abnormalities that are the main cause of rare diseases. Doctors are therefore able to make a quick diagnosis. leading to timely treatment It gives the patient a chance to survive and have a better quality of life. It often turns away from having a lifelong caregiver. become a power of society.”
while Mr. Boon Puttipongthanachot President of LSD Genetic Diseases Foundation A father who took care of a child suffering from Gosher disease said, “Nong Fai has had Gosher disease since birth. At that time, this disease was very new to us. can be done to help your child survive Moreover, the treatment process is complicated and expensive. It’s a once in a lifetime challenge. But we got through it. therefore looking back on other patients who had to face this difficulty, what would he do? This was the inspiration for the founding of the Better Genetic LSD Foundation in Thailand. Collected patients with Gocheer disease and other rare diseases among LSD genetics. come together Ready to push for the rights that the government takes care of Finally, from the efforts of all of us. Gosher Drug Type 1 is listed on the National List of Essential Medicines. Help finance and access treatment for patients and caregivers. We will continue to work with all sectors to drive rare diseases to be treated equally in the future.”
Rare diseases are genetic diseases that are classified as diseases that have a low incidence and a small number of cases relative to the population. Relevant research and medical data are limited. Thus, there are few studies about these diseases. The number of rare diseases is 6,000-8,000 such as hemophilia, Gaucher, Fabry, and hereditary angioedema (HAE). Genetic inheritance caused by a recessive gene inherited by a patient from both parents. Causes physical abnormalities from the accumulation of substances in the lysosomes (lysosomal storage disorder (LSD).
Gochers are divided into 3 types: type 1 without neurological symptoms, type 2 with acute neurological symptoms. Patients die rapidly from neurological complications and type 3 patients have neurological symptoms. There will be an abnormality in intellectual development. Or have seizures, etc. This disease is often found to have symptoms of the disease from birth to adulthood. Each person will have different symptoms. Some pediatric patients may have growth retardation. In some cases, parents can notice from the unusual shape. and showing signs of illness such as enlarged stomach due to enlarged spleen, liver, blood system symptoms, anemia, low platelet count, causing ulcers
bruising and bleeding more easily than usual Some patients may experience bone pain. have thin bones easily broken bones Information on Gosher disease can be found at https://www.knowgaucher.info/ and more information about rare diseases or LSD genetic disease can be found at https://www.knowgaucher.info/ http://www.lsdthailand.com
1 www.thelancet.com/journals/lancet/article/PIIS0140-6736(20)30457-8/fulltext
2 https://eng.nhso.go.th/view/1/DescriptionNews/24-Rare-Diseases-Added-to-UCS-But-Challenges-Remain/292/EN-US