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Battling rare illness, local resident stresses early diagnosis

Local resident Poonam Vasisht had to go through a tough phase of six months just to get an auto-immune disease diagnosed (pemphigus), which attacks the healthy cells of organs and tissues, mainly in the top layer of the skin and...
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Local resident Poonam Vasisht had to go through a tough phase of six months just to get an auto-immune disease diagnosed (pemphigus), which attacks the healthy cells of organs and tissues, mainly in the top layer of the skin and mucous membranes.

“For me, it started with small blisters in my mouth and later they appeared in my throat area also as I had pain while swallowing food. I went to a private hospital in Mohali for initial check-up. We thought of consulting an ENT doctor, who initially prescribed an oral ointment and some medicines,” explained Poonam.

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Funding portal

The Ministry of Health and Family Welfare, Government of India, has introduced initiatives to address problems faced by patients with rare diseases under the National Policy for Rare Diseases, 2021. To support these objectives, the Central Government is providing financial assistance for the treatment of diseases listed in the policy. They have also launched a digital portal https://rarediseases.mohfw.gov.in for funding, specifically for the treatment of rare diseases.

The ointment healed the blisters for the time being, but as Pooman stopped taking medicines, the blisters appeared again. “I took up my case with a dentist in another hospital, a medicine practitioner in Chandigarh and consulted another ENT specialist in Panchkula, but to no avail,” she added.

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Later, she decided to approach the PGIMER ENT Department. “By the time I went to the PGIMER, the blisters started appearing on my shoulder. I remember Dr Bansal (who runs a private clinic in Mani Majra) referring me to PGI’s Dermatology Department, speculating something serious. The PGI Dermatology Department did a biopsy to check if it was an auto-immune disease that they had been suspecting. And the result was positive, pemphigus,” she said.

Recently, the PGI also held a conference on pemphigus and pemphigoid, where Poonam shared her story with rest of the doctors, delegates and patients on understanding basic principles of diagnostic tests and their utility.

“Dr Dipankar De and Dr Ishita from the Department of Dermatology put me on treatment. I am extremely thankful to every doctor who detected this disease and put me on treatment. By sharing my story, I hope more readers will be aware of such rare diseases and never ignore the smallest of change in our body. Had I not pursued the cause of my disease, I would still have been in the oblivion, dodging my body signs. I now strongly believe that early detection and identification of a disease at an early stage is the first step to fight it,” said Poonam, who is still undergoing treatment.

She had some initial difficulty in adjusting to the treatment, such as intravenous injections and steroids, which have side-effects like sudden rise in sugar level. But at least, now she is happy to now know about the disease better and how to fight it.

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