Rare and Life Changing – A Journey of Knowing An Unknown Rare Genetic Disorder

A bundle of joy was born on January 6, 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, later named KBG Syndrome, was identified in the US in the same year.

The first few years for the parents were puzzling and emotionally draining. Their daughter did not crawl like a typical newborn and could not move her body as expected. She could not walk by herself until she was seven years old. The inability to control her body movements, needing to be fed and cleaned, and being unable to walk or sustain herself is a harsh reality of human life at its most challenging.

The parents are now responsible for their daughter 24 hours a day, 7 days a week, ensuring she is fed, cleaned, and nourished. They also strive to keep her emotionally and mentally strong. Their daughter is now 52 years old. Despite traveling across different parts of the country, they found no answers, as even doctors were unsure of the diagnosis. The parents have always been vigilant in caring for their daughter, regardless of their own health, because they have no choice. As challenging as it is for the family, it is even more painful for the individual who is suffering.

KBG Syndrome is a rare genetic disorder caused by mutations or loss of material in the ANKRD11 gene. This syndrome can occur spontaneously or be inherited from parents, eventually affecting many body systems. Patients exhibit specific characteristics such as short to normal stature, large front teeth, distinctive facial features, skeletal anomalies, and intellectual disabilities, which vary from patient to patient. While individuals with KBG Syndrome share common traits, no two are exactly alike.

The major challenge is the lack of awareness about the syndrome. Even though doctors may not be familiar with the condition, the data is so sparse across different demographics that parents struggle to find solutions. In the United States, for example, the number of patients with KBG Syndrome documented in medical literature is over 150, but this data is inadequate and does not reflect the actual number of cases due to a lack of awareness. If this is the situation in a developed economy, what can be expected in emerging or under-developed economies? The priorities of governments and countries vary across economic strata, leading to disparities in access to the best doctors and ongoing research.

As healthy human beings, we sometimes contemplate the state of not knowing. A person with a rare disease faces challenges such as dependency in decision-making, thinking for oneself, controlling bodily functions, or even recognizing if they are thirsty, hungry, or in pain. How can a healthy person truly comprehend such a situation? It’s unthinkable and often unjustifiable.

The only way to combat this issue globally is by connecting smaller towns to the best medical and research institutions using advanced technology to bridge the communication gap. Both private nonprofits, like the Indo US Organization of Rare Diseases, and government institutions will play pivotal roles in establishing these connections across and within countries.

Author Details:

Shweta Sharma, PhD

I am a medicinal chemist by profession and am currently pursuing my second postdoc fellowship at NIH – National Center for Advancing Translational Sciences in Bethesda, Maryland, where I am working on early drug discovery programs to identify new chemical moieties for new targets to improve potency and physiochemical properties and a tool kit of chemical biology probes for imaging and the development of BRET assays for the new targets. I completed my first postdoc at the Institute for Stem Cell Science and Regenerative Medicine, NCBS Bangalore, where I was involved in developing antidotes for oral pesticides. I have a master’s in Pharmaceutical Chemistry from Guru Nanak Dev University, Amritsar, India, and a PhD in Medicinal Chemistry from CSIR-Indian Institute of Integrative Medicine (IIIM), Jammu, India.

My motivation for joining IndoUSrare is to connect patients and families with rare diseases from small towns to the best medical & research institutions in the world.