HYDERABAD: Ramya was a normal, happy-go-lucky child till she was seven and her world was just perfect. But things started changing gradually and soon she was diagnosed with a Lysosomal Storage Disorder (LSD) making her suddenly different from other kids.
Her growth started to delay and her vision started to blur and, by the time she turned 15, she lost her ability to walk and was confined to a wheelchair. All these problems were attributed to one root cause: Mucopolysaccharidosis type 6, a very rare LSD.
“I was as normal as anyone till I was seven and went to a normal school. When I got to know that I have a disease which is very rare and that I share this with only one more person in the entire country, it was shocking. But, that did not deter me from continuing my education. I love to study and one day I would be an IAS officer,” said M Sai Ramya.
In spite of all the difficulties, she got 9.2 grade in the Class 10 board examination and is now studying Intermediate second year in the open school system.
Like Ramya, there are hundreds of patients and their parents in the country who are looking out for a helping hand. These diseases can be diagnosed as early as when the child is still in the womb or quite late in the life varying from patient to patient. The only way to treat these disorders is through enzyme replacement therapy (ERT), but the cost of the treatment is very high and the patient would need life-long treatment. An injection would cost at least Rs 1.5 lakh and depending on the condition of the child, they would need two or three injections per month.
“There is no treatment for her disease in India. In order to pursue her goals and get her cured of this disease, she even went for international adoption but unfortunately did not meet the age criterion. She is a brilliant child and we hope we will get some financial help from the government and other donors so that my child can lead a healthy life,” said M.Vijaya, Ramya’s mother.
Unlike Ramya, little Jayvanth did not lead a normal life even for a few years. He was diagnosed with the deadly Mucopolysaccharidosis I when he was a three-month-old baby and has been living with it ever since. He started taking ERT at the age of 18 months and would need it for the rest of his life.
“He is very active and would make friends easily irrespective of the other person’s age. He attends school and takes part in extra-curricular activities and says that he wants to become chief minister of this state. All that we are asking for our kid is some financial help. We want the government to realise the severity of these disorders and help these little humans,” M.Divya, Jayvanth’s mother, said.
“We started visiting various hospitals with our little baby but the doctors could not diagnose her problem till she was two years. We arranged her ERT treatment for some time but the company sponsoring her medication backed off. Now, we are back to square one and hope the government will stand by us,” the mother of 4-year-old V.Samiksa, said.
actress Jayasudha Takes up Cause
With an aim to increase awareness about rare diseases among the policymakers and the public, the Lysosomal Storage Disorders Support Society (LSDSS) observed the first International Rare Disease Day in the state here on Wednesday. Veteran Telugu actress Jayasudha Kapoor has agreed to be the brand ambassador for taking up the cause of children suffering from rare genetic disorders. Addressing the gathering, she said that since the treatment is quite expensive, the central government should also chip in and announce measures that would benefit these patients. Also, people should come forward and donate so that these children can continue the treatment, she added.
LSDs, a Group of 50 Rare Metabolic Disorders
LSDs are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. They affect multiple organs and cause progressive physical and/or mental deterioration over time. A majority of LSDs are managed with supportive care measures that are disease-specific. However, six of the LSDs can now be treated through enzyme replacement therapy but the cost of the treatment is very high and the patient would need life-long treatment. In general, the patients would need two doses of an injection which would cost approximately Rs 1.50 lakh each per month.
500 Cases in India,130 in Telangana
According to the statistics given by LSDSS, approximately 500 children in India, 130 of them in Telangana, are suffering from this disorder. “As these disorders are quite rare, they are not attracting the attention of the public and policymakers. The number of these cases are more in India than in developed countries. In India, these are more predominant in South India where marriages between first cousins is quite common,” Dr A Radha Rama Devi, paediatric genetics specialist at Rainbow Hospitals, said. She requested the pharma companies in the state to develop medicines for these disorders as importing them for the United States is costing the parents quite a lot.