A seven-year-old boy from rural Thiruvananthapuram, who has been in severe pain and respiratory distress because of Plexiform Neurofibroma (PN), a rare condition, has been provided free treatment using a patented drug under the government’s KARE (Kerala Against Rare Diseases) scheme.
PN is strongly linked to the genetic disorder Neurofibromatosis Type 1 (NF1) and is a condition wherein non-cancerous tumors called neurofibroma grow around a nerve causing severe pain, weakness, vision/hearing loss, and disfigurement, as they infiltrate surrounding tissues and organs. The condition is seen mostly in childhood and these soft tumours can appear anywhere in the body.
A condition requiring long-term treatment and no definitive cure, PN is not part of the 63 rare diseases which have been included for treatment under the National Policy for Rare Diseases.
The seven-year-old, being treated at the SAT Hospital, which is one of the Centre of Excellence for Rare Diseases, thus becomes the first PN patient to be offered free treatment by any State government.
Till recently, surgical excision of the tumours was the only treatment option that was available for these patients. But often, these tumours may grow extensively in inoperable areas like the spine, leaving patients in extreme distress. In 2020, the drug Selumetinib, a targetted oral medication, was approved by the US FDA for pediatric patients with inoperable PN.
“The seven-year-old had come to us six months ago with a huge tumour protruding from his neck and with severe respiratory distress and pain. A CT scan revealed a huge mass growing around his heart and lungs, constricting the organs and surgery was definitely out of question. This is the fourth month of treatment using Selumetinib and the mass has reduced in size and the child shows vast improvement, giving us much hope,” says V.H. Shanker, who heads the Medical Genetics department at SAT Hospital.
There are less than 15 patients in the entire country who are currently being treated for PN using Selumetinib, he added.
Costly affair
A patented drug, the cost of Selumetinib runs into lakhs for a month’s treatment. These are oral capsules which should be had daily and doctors are not sure how long these should be administered but they reckon that once the growth phase tapers down in adolescents, the tumours will stop growing.
The Health department has allocated ₹10 lakh for the child now by including him under Arogyakiranam and KARE schemes and more funds will have to be found to continue the treatment.
Under KARE, the Health department has been providing free medicines which run into crores as well as psychosocial support services to several children with rare genetic disorders like Lysosomal Storage disorders, SMA and growth hormone-related issues.
Published – January 09, 2026 09:55 pm IST
