Assam's AMCH Launches Rare Disease Treatment as Centre of Excellence, 15 Patients Begin Care on First Day

Assam Medical College and Hospital (搜索)搜索该词条 (AMCH) in Dibrugarh has officially initiated treatment for patients suffering from rare health conditions, a milestone described as historic for the medical institution and for patients across Assam and the North East who have long struggled to access specialised care close to home. On the day of the formal launch at the Super Speciality Block of AMCH, at least 15 patients diagnosed with rare diseases arrived for treatment, coming from different parts of the State—including Guwahati, Tezpur, Nagaon and Sipajhar—as well as from neighbouring Tripura.

The initiative is particularly significant because AMCH was designated a Centre of Excellence for Rare Diseases under the National Policy for Rare Diseases (NPRD), 2021, by the Union Ministry of Health and Family Welfare's Rare Disease Cell last year. AMCH is the first medical institute in Assam and the second in the North East to receive this designation.

A New Chapter for Rare Disease Care in the North East

For patients and their families, the development offers the possibility of receiving life-changing treatment without having to travel to distant parts of the country or bear the exorbitant cost of specialised medicines on their own. Under the NPRD 2021 guidelines, eligible patients can receive central financial assistance of up to Rs 50 lakh for treatment.

Chief Minister Himanta Biswa Sarma said the treatment would be provided with full financial assistance from the Central Government, which is particularly significant for rare diseases that often require prolonged and specialised treatment. He noted that the initiative marks an important development in Assam's healthcare sector and would help patients avoid travelling outside the region for specialised care.

Disease Burden and Patient Population

AMCH has so far identified 85 patients suffering from various rare conditions. These include 21 cases of Spinal Muscular Atrophy (搜索)搜索该疾病 (SMA), 50 cases of Duchenne Muscular Dystrophy (搜索)搜索该疾病, three cases of Gaucher Disease (搜索)搜索该疾病, two cases of Mucopolysaccharidosis (搜索)搜索该疾病, and one each of Cystic Fibrosis (搜索)搜索该疾病, Wiskott-Aldrich Syndrome (搜索)搜索该疾病, Mucolipidosis II Alpha/Beta (搜索)搜索该疾病, Osteogenesis Imperfecta (搜索)搜索该疾病, Hyperinsulinemia Hypoglycemia (搜索)搜索该疾病, Glycogen Storage Disorder (搜索)搜索该疾病, Prader-Willi Syndrome (搜索)搜索该疾病, Turner Syndrome (搜索)搜索该疾病 and Galactosemia (搜索)搜索该疾病.

Explaining the significance of the initiative, AMCH Principal Dr Sanjeeb Kakati said the treatment of rare diseases was challenging not only because of the complexity of diagnosis but also because of the enormous cost of medicines. "For several rare diseases, there is no treatment as of today, although medical science is making every effort to find one. The greatest hope is that some rare diseases can now be treated and medicines are available," Kakati said.

He pointed out that the medicines required for such conditions can be extraordinarily expensive because they often involve years of research and development and have to be administered over prolonged periods, sometimes for a decade or even throughout a patient's lifetime.

The Challenge of Specialised Care

According to Kakati, patients with rare diseases cannot be managed through conventional hospital services because both diagnosis and treatment require specialised expertise. "Treating these patients with rare health conditions at general hospitals is not possible because the diagnosis process is complex and, after diagnosis, the treatment is also difficult. For Assam and the North East, where patients often cannot travel to other parts of the country for treatment, this is of utmost importance," he said.

Strengthening Diagnostic Capabilities

As part of the initiative, the institution is preparing to strengthen its diagnostic capabilities. AMCH plans to establish an advanced integrated diagnostic laboratory with modern gene-sequencing facilities, along with a network-based system for cross-disciplinary medical testing, evaluation and clinical services. The Central government has approved Rs 5 crore for the facility, which the institution hopes to establish by the end of this year.

Kakati said the diagnostic facility would help improve the identification of patients, but treatment could not be held back until the laboratory became operational. "We have already received an allotment for medicines. If we wait for the diagnostic laboratory alone, treatment for those diagnosed and confirmed will be delayed," he said.

Chief Minister Sarma further said a dedicated Genetic Testing Laboratory would be established at the centre in the next phase. The facility is expected to help in the early detection of rare diseases and ensure timely treatment.

Relief for Patients and Families

For families who have lived with the financial and emotional burden of rare diseases, the beginning of treatment at AMCH has already brought a sense of relief. Sarmistha Pritam Baruah, an author and poet who is an SMA patient from Nagaon, said she spent several years without treatment, and even after medicines became available, their high cost put them out of reach.

"When treatment was discovered for the disease, we were happy, but at the same time we were not, because for common people like us, the cost of the medicine is extremely high and not affordable," she said. She recalled that the initial years of treatment alone could require around Rs 72 lakh, an amount impossible for her family to bear.

The launch at AMCH, therefore, represents more than the start of another specialised medical service. For patients like Baruah, it marks the arrival of an institutional support system for conditions that have historically received limited attention and for families who have often had to confront rare diseases with little access to affordable treatment.