Demystifier: ED Original where the content is written in such a way that it is knowledgeable and easy to comprehend at the same time.
The rare genetic disease that took away the life of 15-year-old Nihal Bitla seems to have developed a foothold in the country. After the death of India’s first ever reported case of Progeria, two other cases of the disease have been reported.
The two children have been diagnosed with Hutchinson-Gilford Progeria Syndrome (HGPS) as per the Progeria Research Foundation. According to medical experts, India now has a total of seven reported and allegedly 66 unreported cases of Progeria.
As a part of a fully-funded medical trial, five-and-half-year-old Aditya Sahu of Chhattisgarh will be sent to Boston for medical assistance in the disease. So let’s get in the depth of what actually this disease is.
What is Progeria?
According to Wikipedia, Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. As much as the disease is rare, it is fatal.
The carriers usually do not live past the age of teenage. The longest living survivor was a South Africa based DJ/Artist Leon Botha, who passed away in 2012 at the age of 26.
People suffering from this disease can suffer from a number of complications. Symptoms such as slow growth, short stature, underdeveloped jaw, hair loss, wrinkles, dwarfism, enlarged head and physical deformities are seen commonly in Progeria patients.
Why Does It Happen?
In biological terms, Progeria is the result of a mutation in the LMNA gene that helps to encode a protein. That single mistake in a certain gene causes it to make an abnormal protein called Progerin.
Progerin causes the cells in our body to break down rather easily. Progerin is what builds up in the cells of children suffering from Progeria, which makes them age quickly.
How many people in the world are suffering from this disease right now?
Progeria affects 1 out of every 4 million children. According to Progeria Research Foundation, currently, there are 250 such cases in the world right now out of which nearly 60 are from India.
Makes it all the more reason why awareness about this disease needs to be spread in the country sooner.
How Can It Be Cured?
There is no known cure for the disease. All kinds of treatments that are employed are only to reduce the complications such as arthritis, respiratory, and cardiovascular-related problems. Physical and occupational therapy can also be useful to increase bone strength.
The aging of a Progeria patient is comparable to aging at a rate eight times faster than the aging of a normal person.
FTIs (farnesyltransferase inhibitors) are a type of anticancer drugs that have been proposed for fixing the damaged cells of a Progeria stricken person but their use has been limited to animal models for now.
Although the occurrence of Progeria is extremely rare, awareness about the disease still needs to be spread. It is not inherited or passed down in families. This genetic disorder can occur to anybody irrespective of their gender or race.
Nihal Bitla’s journey and intensive campaigning surely paved some way for the others, which is why new cases of the disease are being reported. Faster identification of the disease will help in early diagnosis and thus, a better treatment can be provided to the patient.
It might not be possible to completely cure the disease but the quality of life could definitely be improved for the little munchkins who are oblivious to the wrath of this dreadful and fatal disease.
Image Credits: Google Images
If you liked reading this, you might wanna check out: