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Events
Engage with Rare Humans of India at select medical conferences, seminars and more, learning about Rare Diseases through a humanistic angle. Whether you're a patient, a medical health professional, or simply interested, there's something for you.
Our talk in this event, part of the "DNA Diaries" initiative, was designed to educate pediatricians on the critical importance of recognizing red flags for genetic conditions in their patients. The presentation centered around the moving story of a young girl, "M," who was diagnosed with Rett syndrome—a rare and severe neuroregressive disorder. Through M's journey, attendees learned how early identification and genetic testing can dramatically alter the course of care, providing families with effective tools and technologies like eye-gaze communication systems to improve quality of life.
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Moreover, the event underscored how pediatricians play a pivotal role in spotting early signs of genetic disorders, such as delays in developmental milestones, and highlighted how a definitive diagnosis not only opens the door to better management but also connects families to invaluable support networks. By sharing M’s story, the presentation provided a tangible example of the profound impact that timely intervention and proper genetic counseling can have on a child's life, equipping healthcare providers with the knowledge needed to make a real difference.
The "DNA Diaries" feature in this seminar, titled 'Unmasking the Genetics Behind Cerebral Palsy: Patient Stories of Misdiagnosis and Discovery' shared two real-life patient stories, bringing a deeply human perspective to the complex world of genetic diagnoses. These stories revealed how genetic testing can uncover underlying conditions often mistaken for cerebral palsy, allowing families to receive not only clarity but also more precise care and support.
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The event emphasized that what might first appear as cerebral palsy could, in fact, have a genetic root, and early diagnosis can make all the difference. Attendees learned how recognizing red flags and recommending genetic testing can transform patient outcomes—avoiding unnecessary treatments, providing tailored therapies, and connecting families to essential support networks. The touching narratives shared at the seminar reinforced that behind every genetic test is a family in search of answers and a path to better care.
At the recent seminar hosted by the Genetics and Fetal Medicine Committee and the Study on Female Breast Committee, under the Federation of Obstetric and Gynaecological Societies of India (FOGSI), "DNA Diaries." presented the story of "G," a woman with a strong family history of cancer, who bravely navigated a breast cancer diagnosis. Through her story, we emphasized the critical role of genetic testing, particularly for those with hereditary risks, such as BRCA mutations. This seminar was an excellent platform to discuss the proactive measures one can take, like regular checkups and genetic screening, which are essential for early detection and management of cancer risks.
The broader purpose of sharing this case was to underline the importance of awareness, self-examination, and genetic testing in healthcare. In a country like India, where hereditary cancers are often under-recognized, this presentation aimed to inspire both patients and healthcare professionals to engage more actively in genetic screening and personalized medical care​​.
