For children with rare diseases, every day is a battle against several odds, and their parents have to learn how to deal with their needs and make every effort to provide them with a regular upbringing.
Surekha Ramachandran, the president of Down Syndrome Federation of India, also attests to the fact that caring for children with multiple disabilities is a challenging experience and she speaks from personal experience because her own daughter was born with multiple challenges.
Every year across the globe, February 28 is celebrated as ‘Rare Disease Day’ to raise awareness about rare diseases.
This year, Healthcare provider Voluntary Health Services (VHS) along with launched a Centre of Excellence (CoE) dedicated to the diagnosis and treatment of rare diseases in Chennai.
According to S Suresh, the secretary of VHS, “The centre will be a one-stop centre to offer multispecialty facilities with doctors coming to the hospital to treat children with rare diseases.” The centre is the first of its kind in Tamil Nadu to cater to the multi-organ care that is required by persons who suffer from rare diseases.
The Institute of Child Health, which is also located in Chennai, observed the day and implemented a continuing medical education programme. Around 32 children here have been identified with having lysosomal storage disease, a chronic disorder, in the past one year.
Lysosomal storage diseases (LSDs) are primarily caused by dysfunctional enzymes, and severely affect the quality of life of the patients. Fortunately, treatment is available for some of the LSDs, and can significantly improve the condition of the patients.
However, as per Dr Rema Chandramohan, Professor of Pediatrics at ICH, treating it is an expensive process, and the only option, enzyme replacement therapy, can cost lakhs of rupees per session. Dr Rema said that ICH is trying to identify companies to tie up with, so long-term treatment can be offered to the children who need it.
Interestingly, Bengaluru was the first city in the country to have its own centre of excellence for rare diseases at the Indira Gandhi Institute of Child Health. India’s first exclusive Rare Disease ward and free treatment facility are jointly staffed by the Organization for Rare Disease India (ORDI). Since its inception, the centre has diagnosed around 100 patients with rare diseases, providing treatment if possible, or giving supportive care.
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In June 2017, the Central Government had drafted the rare disease policy, which when implemented, will help patients seeking treatment, as the costs are high. Early diagnosis and timely intervention are essential when it comes to tackling rare diseases.
Therefore, the founding of centres of excellence dedicated exclusively to the cause is a step in a positive direction!