A 16-month-old baby was diagnosed with a rare genetic disorder called Gaucher in April this year.
The Lysosomal Storage Disorders Support Society (LSDSS), a patient support group working towards the cause of rare diseases in India, on Thursday, conducted a workshop at the Press Club, seeking help for a 16-month-old baby Harshini, who was diagnosed with a rare genetic disorder called Gaucher in April this year.
According to LSDSS, with no cure available, and treatment expenses beyond his capacity, Harshini's father, Rajasekhar, has now sought support on various online forums and help from the state government, to save his child.
His parents recall that Harshini was 10 months old when she suffered a bout of pneumonia. Since her problems persisted, they had to visit several doctors before they could diagnose the cause of her ill health. It was only after conducting several medical tests that doctors from Rainbow Hospital finally confirmed that Harshini was born with Gaucher disease, a rare genetic disorder that affects the liver, spleen, lungs, kidneys and brain.
Gaucher affects an estimated 1 in 50,000 to 1 in 1,00,000 people in the general population. It occurs in persons who do not produce enough of an enzyme called glucocerebrosidase.
The enzyme deficiency causes fatty materials (lipids) to collect in the spleen, liver, kidneys, and other organs.
The major signs of Gaucher include liver or spleen damage, low red blood cell counts (anaemia), low blood platelet counts, and bone problems.
Rajashekhar, Harshini's father, who runs a small photocopy and printing shop at Mahboobnagar district, said, "Our world was shattered when Harshini was diagnosed with Gaucher disease 2 months back. To save my beloved child, I have been vigorously canvassing for help on various online forums, and urging the government to support my daughter so that the required treatment can be provided to her."
LSDSS President Prasanna Kumar Shirol said that that the government could play a crucial role in spreading awareness about these disorders, and also help patients in accessing treatment facilities under the fundamental right to health and life.
"It is economically and psychologically taxing for the afflicted and their families to know that their loved ones are suffering from Gaucher. However, the solution lies in the awareness and timely treatment, that can be provided by only by the state", Shirol added. (INN)