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It was the first COVID Lock-down, back in March 2020. Most students at our University went home. A few of us stayed back. Fortunately, the library was still open. It became my second home, and I spent several hours poring over books, journals and magazines.
On one such occasion an article titled, “Find the children – 60 in India with Progeria” came to my attention. I knew a little about the disease, but this article was an eye-opener for me. I was touched by the yeoman service rendered by the Progeria Research Foundation. Then and there I decided to be a volunteer for the Foundation. It is in that capacity that I pen these few lines.
Later, I did watch the famous movie, “Paa.” The film was more than a regular Bollywood entertainer. It depicted Amitabh Bachchan, arguably the greatest Indian actor of all time, playing the role of a child with progeria. Abhishek Bachchan, his real-life son, played the role of “Paa,” his on-screen father. The movie poignantly captured the agony of a progeria victim. The thought-provoking episodes on the life and death of a boy with progeria has captivated several hearts, and mine as well.
Currently it is estimated that there are 400 progeria children worldwide; 60 of them are in India. Only 18 of those in the latter group have been identified so far. We need to locate the remaining so that they can be helped in various ways.
What is Progeria? It is an extremely rare disease affecting children, causing rapid ageing and eventually death. It generally manifests by the age of two. The kids have slowed growth, a narrow face, small lower jaw, thin lips, a large head, prominent eyes, hair-loss and wrinkled skin with prominent veins. A child of merely six or seven begins to look like a very old man or woman. Without supportive treatment, the child dies of heart disease or stroke, generally by about 14 years. However, these kids are very intelligent, courageous and full of life.
For those who have read about the disease, and have a chance encounter with one such individual, it would be impossible to miss the diagnosis. The bald, aged, wrinkled look of a young short-statured child with a relatively large head, small face and a pinched nose: one look says it all.
Doctors find it difficult to diagnose this entity in the initial stages. As the disease is caused by a mutation in the LMNA gene, only a specific genetic test can confirm the diagnosis. As on today, there is no cure for progeria.
Symptomatic and occupational therapy help in maintaining a reasonable quality of life. Low dose aspirin, statins to lower cholesterol and small doses of anti-coagulants have been effectively used to tackle the atherosclerotic changes that commonly accompany the disease. Excellent dental care and nutritious food are of great advantage. The drug lonafarnib (Zokinvy capsules) has been approved by FDA with a view to prolong the life-span of these children. A substance in broccoli called sulforaphane could be effective, as it has been shown to breakdown progerin (the abnormal protein responsible for the disease). Active research is being undertaken in this area by the PRF.
The Progeria Research Foundation is the only organization in the world dedicated to the search of a treatment and cure for Progeria. The foundation is keen to locate the affected children and render all possible help. Drs. Leslie Gordon and Scott Berns established the PRF in 1999. Their son Sam Berns was diagnosed with progeria when he was about two years old. Sam died in 2014, aged 17 years. He lived an extraordinary life, giving emotional support to many children with progeria and to their parents. Of course, in a sense, he was the cause for establishing this unique organization.
The Foundation was initiated to create awareness, educate and help families of progeria children. Gradually it became a pivotal point for doctors, researchers and even the general public to understand everything about progeria. It is one of the best research platforms in the world, catering not only to progeria but also the mechanism of the ageing process. The Foundation recognized the cause of the disease, provided the specific diagnostic test and identified at least one drug as a treatment.
This article is an appeal to all readers (especially to those with Indian roots), who may have a unique opportunity to encounter these children, to reach out to them and do their bit in the amelioration of their condition.
More information about PRF can be viewed here:
https://www.progeriaresearch.org
