New Delhi: Patients with rare genetic lysosomal storage disorders have been facing severe health issues after exhausting their Rs 50 lakh allotment under the National Policy of Rare Diseases (NPRD) 2021. The family members of the patients claim they are yet to receive additional funds, despite Delhi High Court’s directive to the ministry of health and family welfare in this regard.
On Oct 4, HC was informed that the ministry was taking steps to increase the allocation from the current Rs 144.2 crore to Rs 974 crore for fiscal years 2024-25 and 2025-26 for the treatment of rare-disease patients. The court instructed central govt to establish the National Fund for Rare Diseases (NFRD) and to reconsider the upper limit of Rs 50 lakh for treating patients with rare diseases under NPRD, stating the cap was “inadequate” for certain Group 3 category rare ailments such as DMD, SMA and Gaucher.
Rare diseases have been classified into three distinct categories based on treatment approaches. Group 1 encompasses conditions that can be resolved through a single curative intervention. Group 2 comprises ailments that need extended or permanent treatment with comparatively affordable therapy costs. Group 3 includes conditions where established treatments exist but require substantial financial resources and life-long therapeutic intervention.
Of the 506 patients listed on the national crowdfunding portal, 242 suffer from Gaucher. Of these, 68 patients are currently receiving treatment while 128 are on the waitlist. Additionally, 21 patients have exhausted their one-time aid of Rs 50 lakh.
The families of several patients said they are waiting for a sustainable funding mechanism but no progress has been made even after the HC order. Masood Alam, an Okhla resident, told TOI the health of his daughter Alishba Khan has been declining, with symptoms like enlarged spleen, low haemoglobin, weakness, swollen abdomen and frequent infections, which require proper medication.
“Alishba’s treatment for Gaucher’s disease at AIIMS stopped in Aug this year. Her treatment began in 2020 with fortnightly injections, increasing to two injections per fortnight by 2022 due to weight gain. Treatment was halted in Jan 2023 when funds ran out. Following an appeal, Delhi HC ordered Rs 5 crore for AIIMS Delhi in Feb 2023. After an eight- to nine-month gap, treatment resumed but the interruption resulted in hearing loss requiring a cochlear implant, which costs Rs 3-3.5 lakh,” Alam said.
Alam said AIIMS has been providing intermittent treatment following court orders. “Our only request to govt is to ensure her therapy continues without any disruption. Having already experienced hearing loss, we want to prevent further decline in her condition,” he added. Alam has suffered the loss of four children due to suspected genetic disorders — a boy with mucopolysaccharidosis-1 (MPS I) passed away at the age of eight; a daughter and two other sons died from Gaucher’s disease when they were 14, 16, and 18 months old, respectively. Ashok Kumar (53), another Gaucher patient, has been facing a similar challenge since July, when he exhausted his Rs 50 lakh fund. His father Jagdish said while his son’s condition was stable during treatment, his abdomen swells without medication.
Dr Madhulika Kabra, professor, division of genetics, department of paediatrics, AIIMS, who is part of NRDC, said she has sent the fund status report to the ministry of health and family welfare.
The Lysosomal Storage Disorders Support Society of India said it has requested the ministry to ensure sustained treatment support for Gaucher patients. The body said Gaucher treatment through enzyme replacement therapy achieved the highest rating of 10/10 in their evaluation. The society has appealed to Union health minister J P Nadda to ensure sustainable treatment and support for Gaucher patients, based on clinical parameters.
