KIMSHEALTH Spreads Awareness on Rare Diseases
KIMSHEALTH Medical Genetics, Trivandrum is a leader in genetic testing, counselling, and treatment for rare diseases in Kerala. To raise awareness, KIMSHEALTH started the “28 Days, 28 Rare Diseases” campaign. This effort is led by Dr. Roshan Daniel (DM Medical Genetics) to help families find answers.
What is Rare Disease Month?
February is Rare Disease Month. It ends with Rare Disease Day on February 28th. This month helps people learn about rare diseases and support those affected.
What Are Rare Diseases?
•A rare disease affects fewer than 1 in 10,000 people. Each disease is rare, but together, they affect millions.
•There are over 7,000 rare diseases worldwide. Many of them are hard to diagnose and treat.
•Most are caused by changes in genes (DNA mutations). Some are inherited, while others happen by chance.
Genetic Testing in Rare Diseases
Genetic testing helps find the cause of many rare diseases. These tests check for gene changes that lead to disease.
✔ Confirms diagnosis. Helps doctors find the exact disease.
✔ Guides treatment. Some treatments work better for specific gene changes.
✔ Identifies family risks. Some rare diseases run in families. Testing can help relatives know their risks.
✔ Supports research. Finding the cause can help in developing better treatments.
At KIMSHEALTH Medical Genetics, Trivandrum, advanced tests like gene panels, whole exome sequencing, and genome sequencing help diagnose rare diseases.
Genetic Counselling in Rare Diseases
A rare disease diagnosis can be confusing. Genetic counselling helps patients and families understand their condition.
✔ Explains test results. Helps make sense of complex reports.
✔ Discusses inheritance. Explains if the disease can be passed to children.
✔ Offers emotional support. A diagnosis can be overwhelming. Counselling provides guidance.
✔ Helps with family planning. Couples can learn about options like prenatal testing or IVF with genetic screening.
At KIMSHEALTH Medical Genetics, Trivandrum, experts offer clear guidance and support for families dealing with rare diseases.
How KIMSHEALTH Helps
KIMSHEALTH – Medical Genetics, Trivandrum offers:
✔ Genetic testing to find rare diseases
✔ Genetic counselling for individuals and families
✔ Online consultations for remote patients
✔ Personalized treatment plans for better care
Can Rare Diseases Be Treated?
Yes! Many new treatments help improve lives.
✔ Enzyme replacement therapy. Helps replace missing enzymes in some diseases.
✔ Small molecule therapy. Special medicines that target specific genetic problems.
✔ Organ and bone marrow transplants. Can help in some rare conditions.
✔ Gene therapy for some diseases. Works by fixing faulty genes.
Early diagnosis is key. Even if there is no cure, supportive care can improve quality of life.
Join the Awareness Campaign
Throughout February, KIMSHEALTH will share facts about rare diseases and treatment options.
📢 Need genetic testing, counselling, or advice? Contact KIMSHEALTH – Medical Genetics, Trivandrum.
🔹 No disease is too rare to care! 🔹