Over two decades ago, Ravi and Nirmala from Bengaluru gave birth to their second child, a daughter who they named Dhanya.
While they were ecstatic to welcome a new member in their lives, what bothered them was Dhanya's incessant wails which only grew with each passing day.
On the fifty-eighth day after her birth, doctors diagnosed the infant with osteogenesis imperfecta or brittle bone disease, a rare condition where the bones become extremely fragile.
"When we build a house, we need both bricks and cements. My body does not have the cement," Dhanya tells The News Minute, breaking down her disease in simpler terms, at an event conducted by the Organisation for Rare Diseases in India (ORDI) in Bengaluru on Friday.
This meant that her bones could break easily, even from a mild touch or vibration. Doctors warned her that the disease would be in its most dangerous form till her teenage years.
"I've had over 300 fractures till now. My second home has been a hospital," she says.
Though the disease kept Dhanya confined to her home for most of the time, neither she nor her parents let it come in the way of her studies. Dhanya finished her studies at home and is currently pursuing a Diploma in Creative Writing from Indira Gandhi National Open University.
She feels strongly about spreading awareness on rare diseases in India, something she is actively working towards. "Till a very long time, I thought I was the only person who was born like this. We don't want to see another generation grow up like this."
Dhanya with her parents
In India, an estimated 70 million people or 1 out of 20 individuals, suffer from rare diseases, according to ORDI, a non-profit advocacy group that works towards spreading awareness on the issue. Of these, almost half are children, a majority of who die even before reaching adulthood due to lack of timely and proper medical intervention. What makes the problem worse is lack of early diagnosis- the average diagnosis period for such diseases is seven years- and the high cost of treatment.
Prasanna Kumar B Shirol (45), Founder-Director of ORDI left his job as a sales professional a few years ago to start the organization. His only daughter is a 16-year-old who suffers from Pompe, a rare multisystem genetic disorder, which affects the muscles.
While the first symptoms of the disease surfaced when she was two, it was diagnosed only seven years ago.
“Today, she needs to be ventilated 24 hours. Our house is like an ICU, my wife has become like a doctor. We spend Rs 40,000 monthly on taking care of her. And need another Rs 1.5 crore annually, which we get from corporates as sponsorship or charity. I cannot afford that much myself,” Prasanna says.
He feels that had the disease been diagnosed earlier, his daughter could have led a normal life.
Out of the 7,000 rare diseases, he adds, only 500 have FDA approved drugs, many of which aren’t even available in India or are very expensive.
According to Dr Meenakshi Bhatt, Consultant, Clinical Genetics at CHG (Centre For Human Genetics), “A rare disease is often referred to as an ‘orphan disease’, since the condition is not likely to be researched or studied, therefore making treatment of the condition much more difficult."
While no statistics are available on the number of patients with rare diseases in India due to lack of any focussed studies, Dr Meenakshi says that in the nine years that she has been working in the clinic, they have come across around 15,000 such patients.
Only 200-300 of such diseases can be said to have a cure. For the others, what is needed most is an active support system, both for patients and their families.
Experts say that while it is important to speak about the disease, the treatment and the intervention needed, what often takes a backseat is the discussion about people who suffer these rare diseases and an attempt to understand their struggle.
Dr Meenakshi also stresses on the importance of research in rare diseases and the need for policymaking that will help such patients.
With timely diagnosis, medical practitioners can even detect abnormalities in foetuses, thus helping parents make informed decisions.
When Prasanna's wife got pregnant for the second time, doctors detected the same disease in the foetus, and the couple decided to terminate the pregnancy.
Four-and-half-year-old Kusuma was perfectly fine till she was one, says her mother. Trouble began when she had a growth on her head first and then on her back. She also could not walk at all.
Kusuma (right) with her mother
The only daughter to her parents, Kusuma was diagnosed with Fibrodysplasiaossificans progressiva (FOP), a rare inherited connective tissue disorder, which causes the bone to grow in areas where it is not normally present.
"It is like she is getting enclosed in calcium. She is undergoing treatment to stop the bones from growing," Dr Meenakshi says.
ORDI is conducting ‘Race for 7’, an event to commemorate Rare Disease Day, on February 28 at St Joseph’s Indian High School. The organization will also raise awareness on the issue and the challenges faced by such patients.