Senior Loken Syndrome (SLS), an extremely rare genetic disorder, caused due to mutation of at least five genes and has a prevalence rate of one in a million people the world over, has hit a family in Chhattisgarh.
Despite its extreme rarity, the disease has affected two sisters, Shivani (9) and Sania (7), who are now admitted at the Dr Ambedkar Hospital here for treatment with no known permanent cure for the disease.
SLS is characterized by the combination of a chronic kidney disease and a retinal dystrophy (progressive degeneration of tissue) and doctors say that its progression can lead to acute or chronic renal insufficiency and finally to end stage kidney disease and early onset severe visual loss due to retinal dystrophy.
In rare cases, other additional clinical signs may be observed like liver fibrosis, obesity and neurological disorders. Since the SLS has no know permanent cure, the life span of a patient depends on the complications he/she develops over the years.
When Shivani was born blind, her parents Dhim Sahu and Parvati, residents of Bagbahara, were very sad but accepted it as a "god's will". However, when their second daughter was born blind too, they didn't know what hit them.
The deteriorating health of Shivani, who is now on dialysis, took them to various doctors and despite treatment, her frequent bouts of vomiting, fatigue and weakness never ended. Finally they were referred to Ambedkar Hospital where they learnt the truth.
"My daughters were diagnosed with SLS recently. We had never heard about this disease and now doctors tell me that there is no permanent cure for it. Shivani will have to be on dialysis all through her life and is she is only 9 years old now", says Bhim Sahu, a farmer by profession.
Though Sahu is grateful to the hospital authorities for not having charged him anything till now, he worries how he would cope with things later as his income in very limited. The helpless mother, Parvati, who calls herself "hapless" too, doesn't know much about the disease but she understands it's gravity and knows well that both her kids will never be like the other children on the streets.
"I was happy when Shivani was born but my world came crashing down when I was told that she was blind. It took me long to accept this and by the time I did, another stroke of bad luck hit us with Sania too suffering from the disorder", she told TOI.
However, unlike the mother, young Sania is oblivious to her disease. The chubby young girl (who suffers from obesity) is enjoying all the attention from the doctors and the nurses as she plays around on her bed in Ward 14.
Dr Puneet Gupta, Nephrologist at the hospital, who is treating the sisters, said that after detailed diagnosis "we" realised that this wasn't a simple disease but a syndrome.
"Further tests only confirmed our suspicions," he said adding that while Shivani is already suffering from renal failure and is on dialysis, Sania too has started showing signs of early changes in kidney functioning.
Dr Gupta said unlike some other states, Chhattisgarh so far doesn't have facilities to diagnose genetic disorders or mutations in unborn children. He said, "There could be a possibility that more children could be suffering from this disease and we are contacting the Discovery Science Centre for going into the details"
So far this disorder has been diagnosed in Syria in United States (1961), Chennai (2006) and Dubai (2007).ContactAnuja Jaiswal+91 124 418 7000