With Treatment Available for Only 5% of Rare Diseases, Early Diagnosis is Key to Reducing Morbidity and Mortality~

1st National Rare Disease Conference By Wadia Hospital Brings Hope for Children And  Families

Bai Jerbai Wadia Hospital successfully hosted the first-ever National Rare Disease Conference,  “Cure & Care For The Rare”,  the revolutionary conference that brought together leading experts, researchers, and patients to discuss breakthroughs, challenges, and the future of rare disease care in India. The two-day conference concluded on a high note, marking a crucial milestone in raising awareness and accelerating efforts for better treatment and support for those children affected by rare diseases.

The event saw the enthusiastic participation of over 500 medical professionals, scientists, patient advocates, and caregivers, who engaged in enriching discussions about advancing research, improving access to care, and shaping policies that could transform the landscape of rare disease management in India. Present during the inaugural ceremony were Dr. B.S. Charan, Assistant Director General, Directorate GHS, MoHFW, Govt. of India, Mr.Prasanna Shirol, Co-Founder and Board Director. Organization for Rare Diseases India, Ms.Rumana Hamied, Managing Trustee of Cipla Foundation⁠, Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children, Dr. Sudha Rao – Medical Director, Dr. Pradnya Bendre – Professor & Head, Pediatric Surgery.

During the opening ceremony of the conference, Dr BS Charan, Assistant Director General   (ADG) Dte. GHS, MoHFW said, “I congratulate Wadia Hospital for organizing this wonderful conference. We have received a request to designate the Wadia Institute as a Centre of Excellence for Rare Diseases. There is a standard protocol and quality criteria for this designation, as diagnosing and treating rare diseases requires specialized expertise.”

Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital For Children said, “Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital For Children said, “This year’s theme is Cure & Care For The Rare.  Wadia Hospital believes in the three Cs and can add one more C to it.  The one more  C stands for  Compassion & Cure & Care For The Rare. Over the past four years, the hospital has delivered specialized treatment to more than 5,000 children affected by rare diseases. I want to highlight something that we want to do, which is much more, and  Rare Disease comes as a part of that planning. And in that, I want to go in   for the paediatric cancer hospital which will have a lot of  bone marrow transplants and other rare diseases coming into it.”

Dr Sudha Rao, Medical Director and Organizing Chairperson of the 1st National Conference on Rare Diseases in Children, said, “Rare diseases may be uncommon, but the need for action is urgent. This conference was not just about discussing scientific advancements but also about creating a community of care and support. The incredible participation and response have strengthened our resolve to continue working towards a better tomorrow for those living with rare diseases.”

During the first day of the conference, several insightful sessions were conducted, covering critical aspects of rare disease management, research advancements, and patient care. Experts shared valuable knowledge on early diagnosis, treatment challenges, and policy frameworks to improve healthcare access. These sessions provided a platform for meaningful discussions, empowering both medical professionals and patients.

An interesting session- Rare Disease In Children- Defining And Measuring The Unmet Needs, was conducted by Dr B.S Charan, Assistant Director General ( ADG) Dte. GHS, MoHFW. He said,“The WHO defines rare diseases (RDs) as a condition that affects fewer than 65 people per 100,000 population size. Worldwide, more than 7000 types of Rare Diseases exist, of which 5,500 rare diseases are identified under ICD-11.  50-75% are pediatric onset, and 80% are due to genetic etiology. Other than genetics, include rare infections (bacterial or viral), rare allergic reactions, and rare cancers. 30% of children with RDs die before reaching their 5^th birthday because of the lack of treatment. Treatment is only available for 5% of rare diseases. Early diagnosis and treatment can significantly reduce morbidity and mortality.”

Dr B.S Charan further added about challenges in diagnosis of RDs.“ On average, a patient with a rare disease has to visit more than 7 physicians and spend 4.8 years receiving an accurate diagnosis. 40% of the patients are misdiagnosed on at least one occasion. There are diagnostic delays due to a lack of infrastructure and diagnostic facilities, especially in LMICs.  Treatment is available for less than 5% of identified rare diseases. Where a treatment is approved, the cost of the drug is generally extremely costly, with rare disease drugs reported to be as high as 13.8 times more than conventional drugs. Lack of supportive care is a challenge if definitive treatment is not available. There is also a detrimental influence on the health, psychosocial, and economic aspects of the lives of the RD families. The National Policy For Rare Disease (NPRD) 2021 aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy. The key components include rare diseases categorized under 3 groups: Group 1,2, and 3, Centre of Excellence (CoEs), Government Of India’s Support In Treatment, voluntary crowdfunding, prevention and control and capacity building,” he underscored.

Dr B.S. Charan also delivered a keynote address on the Policy Landscape on Rare Diseases. He stressed the importance of government support, patient-centric policies, and collaborative efforts to improve access to diagnosis, treatment, and long-term care for those affected by rare diseases.

“Hum Saath Saath Hain: A Remarkable Support Group Meet That Empowered and Inspired All!”

Another heartwarming highlight of the conference was a special workshop titled “Hum Saath Saath Hain”- Navigating Through The Journey, a dedicated support session for children and patients, held in collaboration with the Organization for Rare Diseases India (ORDI). The session received an overwhelming response, creating a strong emotional and motivational impact on all participants. Children with rare diseases and their parents courageously shared their journeys, offering insight into their challenges, hopes, and triumphs. Their stories inspired many, promoting a sense of solidarity and encouragement within the rare disease community.

One of the participants, Yash Bhawal from Mumbai, who suffers from a rare disease, was a part of the support group. He shared his journey: “I was diagnosed with Aplastic Anemia, a condition that occurs when your body stops producing enough new blood cells,  in December 2021. I was 15 years old and underwent a bone marrow transplant at Wadia Hospital, and I am doing well now. Nothing is impossible if we have positivity and the right mindset. With good thoughts and support from family, we can overcome any challenge. The right treatment, trust in our doctors, and proper support can make all the difference. Together, we can make the impossible possible. I am 18 years old now, leading a fulfilling life, and aspire to become a surgeon and serve those in need. I thank Wadia Hospital for organizing such an inspiring support group meeting.”

Another participant,  Kavya Julka, who is from Indore and currently pursuing her MBA in Mumbai, was also present for the support group meeting. “I am battling Diamond-Blackfan Anemia (DBA), and the support group session conducted by Wadia Hospital is empowering and will play a crucial role in raising awareness for rare diseases,” she said.

Mumbai’s 14-year-old Keya Hatkar, a Pradhan Mantri Rashtriya Bal Puraskar recipient, suffers from Spinal Muscular Atrophy (SMA), a rare, terminal, progressive, neuromuscular,  genetic disorder, and cannot walk from birth. Keya was part of the support group and shared her journey , which motivated others. “Support groups create much-needed awareness, showing that children with rare diseases can have a life beyond their condition. Hearing real stories gives hope to parents who may struggle with the journey. When held in hospitals with medical support, these sessions become even more impactful. This initiative by Wadia Hospital will inspire families everywhere to support their children and empower their voices,” said her mother, Monisha Hatkar.

To add a touch of joy and inclusivity during the meet, fun-filled activities such as coloring sessions and interactive games were organized, bringing smiles to the faces of children battling rare conditions along with their parents.  This support group meeting emphasized that despite the challenges, there is hope, support, and a brighter future ahead.

Day two of the conference featured impactful sessions, including Care For The Rare – Working Together for a Sustainable Future, Rare Anemia, Therapy for Spinal Muscular Atrophy (SMA), Immunodeficiency and Bone Marrow Transplant, and Genetic Counseling – A Bridge and Bonding with Rare Disease Families. These sessions provided valuable insights and educated attendees.

The 1st National Rare Disease Conference has set the stage for actionable steps to address the pressing needs of pediatric patients and their families.  Wadia Hospital remains committed to caring for those children affected by rare diseases, championing both cutting-edge research and compassionate care.