Rare and Life Changing – A Journey of Knowing The Unknown Rare Genetic Disorder
A bundle of joy was born on 6th January 1975 in India to middle-class parents. Little did they know the fate of their newborn daughter who might have a rare disease. A rare condition was named KBG Syndrome in the same year in the US.
The first few years for the parents were just puzzling and emotionally draining to not see the daughter crawl as a regular newborn, unable to move her body as she should. The daughter could not walk by herself until she was 7 years old. The limitation of not knowing your body movement, being fed and cleaned, unable to walk or sustain oneself is a decree of human life to the lowest level.
The parents are now responsible for the daughter round the clock 24 hours x 7 days a week to ensure she is fed, cleaned, and nourished and is emotionally and mentally strong enough to continue taking care of her daughter who is 52 years old now and going. The parents traveled across different parts of the country but nothing worked as even doctors did not know what was the reason or diagnosis. The parents were always on guard to take care of the daughter irrespective of what they felt or how unwell they were because there was no choice. As much as it’s challenging for the family it is even more painful for the individual who is suffering.
As healthy human beings, we sometimes think of being in a state of not knowing. The person with the rare disease is facing challenges such as dependency on making decisions, thinking for oneself, defecating in control of bodily functions or even realizing if they are thirsty, hungry, or in pain. How can a healthy human even comprehend that situation – it’s unthinkable and sometimes unjustifiable.
A rare disease such as KBG Syndrome is a rare genetic disorder caused by mutations or loss of material in the gene ANKRD 11. This syndrome can occur spontaneously or randomly or be inherited by parents and eventually affects many body systems. These patients have specific characteristics like short to normal stature, large front teeth, characteristic facial features, skeletal anomalies, and intellectual disability that vary from patient to patient. Individuals with KBG syndrome are unique while many share common characteristics, no two are exactly alike.
The major challenge is that sometimes people sitting in different parts of the world do not understand that lack of awareness is the biggest bane. Sometimes, even though the doctors are not aware of the condition, data is so negligible in different demographics that how do parents find any solutions?
Even, in a country like the United States, the data is limited where they say the number of patients affected by KBG Syndrome is over 150 in medical literature but the data is inadequate and does not justify the actual number of cases due to no awareness. Now, if that’s the condition of a developed economy, what would be the case across economies that are either emerging or under-developed? The countries or the governments across economic strata have different priorities. So, all that ends being that your postal code decides your access to the best doctors and ongoing current research.
The only way we can fight this battle in this global world is by connecting smaller towns to the best medical & research institutions in the world using the advent of technology to bridge the gap of communication. Both private nonprofits like the Indo US Organization of rare diseases and government institutions will play pivotal roles in establishing these connections across countries and within the country.
