Rare diseases - Ultimate Guideby Merin Mathew Freelance writer
There is no universally straight way to define a Rare Disease. In the United States, the Rare Diseases Act of 2002 defines rare disease as per its occurrences, specifically ‘any disease or condition that affects fewer than 200,000 people in the United States’ or about 1 in 1,500 people. Whereas, the legal definition in Japan of a rare disease is one that affects fewer than 50,000 patients in Japan, or 1 in 2,500 people. In Europe, a disease is rare, if it affects one in 2000 people. Wide acceptance depends on the affected population and treatment facilities available to handle disease.
What is a Rare Disease?
Rare disease affects small numbers of the citizens. Earlier there were no substantial knowledge and facilities available to diagnose, hence rare disease referred as ‘orphan disease’ also. Most of the rare diseases are genetic and stay with a person all along, unless diagnosed. Characterized by scores of symptoms, same rare disease can respond differently in every patient. Incredibly, there are more than 7,000 diseases considered rare in the U.S.
Rare Diseases and their Characteristics
- Mostly chronic, life threatening, progressive, and degenerative.
- These disable patients causing agonizing pain.
- Affects patients and their family life.
- Estimated 75% rare diseases affect children.
- It mortally affects children below five that makes 30% of the total rare disease patients.
- Genetic rare disease are 80% of all while other 20% comprises bacterial or viral infections, allergies, and environmental factors.
What problems patients face?
- Lack of easy access to expert diagnosis and treatment.
- Delay in getting proper diagnosis and insufficiency of right information regarding disease.
- Social stigmas.
- Absence of specialist healthcare facilities.
- Inability to find right guidance and avenues for the treatment process.
Way to amend system for better treatment
- By forming and implementing healthcare policies and positive approach towards the rare diseases.
- By making a single platform for international researches in this regard and feedbacks.
- By acquiring new diagnostics and therapeutic information and find ways to implement them.
- Making public aware and raising special facilities for rare disease healthcare.
- Sharing of the health issues and people’s participation with their reviews and experiences.
- By forming patients groups who share same health issues.
Find the best platform for comprehensive information and treatment
All said and done, a patient suffering from rare disease needs a clinical, educational, and research assistance to get proper diagnosis and treatment. Patients need immediate healthcare from doctors who are expert in handling rare diseases. XpertDox for instance has built lists of expert doctors, hospitals, and clinical trials for around 6000 diseases, enabled by physician and scientists teams and optimized using inputs from leading doctors in multiple specialties.
XpertDox has a cumulative list of over 6000 diseases, 150 symptoms, 200 procedures and 130 specialties to help such patients. XpertDox can provide access to 1 million doctors, 4,500 hospitals and 18,000 clinical trials. Their mission simply is to offer patients a personalized list of expert doctors, hospitals, and clinical trials for their rare conditions.
The patients’ half battle is won, when armed with right knowledge!
Created on Feb 25th 2018 13:49. Viewed 127 times.