Patients of rare life-threatening diseases from across the region have gathered in Hyderabad to draw attention to their condition and seek government aid for treatment. Large number of families and doctors gathered in a specially organized program on the eve of 7th International Rare Diseases Day support and motivate the children affected with rare diseases and suffering from 'Lysosomal Storage Disorders. On this occasion of International Rare Disease month, over 50 Children from across state are suffering from these diseases and sought financial assistance for the treatment of these debilitating genetic disorders from the government have assembled to show their grievances and seek support and help from the government.
First speaking at the event, a 16 year old patient, who is diagnosed with one, such rare disease at the age of three has presented a heart rendering story that presented the reality of life that every day such patients undergo to exist and continue their daily routine. As these disorders pose a new danger in the form of some failure of the organ on regular basis or create some health problem every day, Harshini says that unfortunately she cannot afford for treatment despite it is available as it is too costly. A brave girl Harshini, who completed her high school studies urges the government to come forward and provide financial help for treatment so that she along with such other children can leave a normal life like other children received applause from the audience.
30 percent incident in Hyderabad
Later explaining about these diseases, Dr. Radha Rama Devi said, “Clinicians often see various categories of LSDs in their practice. In India the prevalence could be anywhere between one in 3000- 5,000 live births. Calculating with the birth of 27million babies born every year, the burden of these disorders are much higher compared to developed countries and much more so in South India where related marriages are high. We studied the spectrum of LSD’s in Hyderabad over a three year period (2012-2015) and detected 30% of suspected patients had LSD’s. In all these cases, major proportion is treatable with enzyme replacement therapy. Unfortunately, we could not provide treatment as the cost of treatment is very expensive. However a few of them received enzyme replacement by the courtesy of Genzyme and Shire companies and you can see the vast improvement in the clinical picture and leading a normal life. On the other side, those who could not be treated, it is very sad to see the deterioration in health finally succumbing to the disease. We tried our best to get the treatment through state government help but in vein. In other states, Delhi government, Karnataka government for e.g., and the army are providing treatment to these children.” She also went on to elaborate that “ if people were to have a more charitable mentality , especially those who have the money, they should take at least one such child affected by a rare disease and give him/her treatment for life, I am sure these children will benefit. It is my dream to have a charity for these children established soon” She hoped.
Appealing to the state government of Telangana, Manjit Singh, President, Lysosomal Storage Disorders Support Society said: "Government have always been supportive and now we urge the government to take immediate action, more number of patients are dying. Though medical board has been formed but this is not enough for the current situation of patients. Our appeal is to provide us medical aid not money. Only government support can save these people and help such patients lead a dignified life. The need of the hour is a government scheme to provide free treatment and medical aid for patients with rare disorders. They are very few in number and it is the duty of the state to provide treatment for them."
Finally speaking on the occasion Smt Jayasudha, a noted cine actress who was the chief guest and brand ambassador to the cause has assured all sorts of help and cooperation to take up the cause with the government authorities and also with the society. Expressing her solidarity with the children Smt Jayasudha urged the society and those with money to come forward and extend the help to provide treatment to these children. While stressing upon the measures to be undertaken to prevent occurances of such diseases, she asked those present in the meeting to take up a campaign against close family marriages prevalent in the society. The program witnessed gathering of doctors and young children suffering from extremely rare type of genetic disorders such as Gaucher, MPS, Fabry and Pompe for which there is treatment available but the cost of treatment is highly prohitable, not within the reach of common man. The doctors attended the program also conducted special medical camp to conduct special tests required and also given suggestions to parents.
About Rare Diseases:
A rare disease is a life threatening or chronically debilitating condition that only affects a very small number of people in the population. The last decade has witnessed development of most of the official programs for rare diseases in various parts of the world as this disease is a life threatening or chronically debilitating condition that only affects a very small number of people in the population. Any therapy developed to treat a rare disease thus only has a very limited number of potential patients. It is estimated that there are approximately 7,000 rare diseases in the world, considerable proportion of the world population - between 6% and 8%, or 420 million to 560 million people out of which approximately 72.6 million are estimated to be Indians. A majority of LSDs are managed through supportive care measures that are disease-specific. However, six of the LSDs can now be treated through Enzyme Replacement Therapies (ERTs). India currently has about 300-400 patients who have been diagnosed with treatable LSDs. Presently in Andhra Pradesh and Telangana there are more than 1000 affected patients with LSD. Around 80% of rare diseases have a genetic origin & rest is the result of bacterial and viral infections, allergies or degenerative causes. Most rare diseases (75%) are manifested early in life and affect children from 0-5 years of age. These patients contribute significantly to morbidity and mortality in the first 18 years of life & due to the lack of provision in the healthcare system their families end up bearing the burden of managing the costs of therapy. Such disturbing indicators make it necessary to create a policy or provision in the healthcare system to ensure a better future and social inclusion for these children and their families. Lysosomal Storage Disorders (LSDs) is a result of disorder in special chemicals called enzymes, are found in special compartments in the body’s cells called lysosomes that are required to break down certain substances in the body. They are found in special compartments in the body’s cells called lysosomes, hence the name LSDs. LSDs affects multiple organs and cause progressive physical and/or mental deterioration over time. These diseases result in severe debilitating medical complications in the form of developmental delay, movement disorders, seizures, enlarged liver, enlarged spleen, bone crisis, pulmonary and cardiac problems.
About LSD Support Society - The LSD Support Society (LSDSS) is a group of patients and their families, who aims to create a strong voice for LSD patients in India by forming national support group. LSDSS campaigns for early diagnosis with effective, affordable and safe therapies for rare diseases such as Gaucher, MPS, Fabry and Pompe. It strives to provide information and support for patients affected with rare diseases as well as creating awareness among general public and decision makers about pain, treatment & how they should be treated in society.
First speaking at the event, a 16 year old patient, who is diagnosed with one, such rare disease at the age of three has presented a heart rendering story that presented the reality of life that every day such patients undergo to exist and continue their daily routine. As these disorders pose a new danger in the form of some failure of the organ on regular basis or create some health problem every day, Harshini says that unfortunately she cannot afford for treatment despite it is available as it is too costly. A brave girl Harshini, who completed her high school studies urges the government to come forward and provide financial help for treatment so that she along with such other children can leave a normal life like other children received applause from the audience.
30 percent incident in Hyderabad
Later explaining about these diseases, Dr. Radha Rama Devi said, “Clinicians often see various categories of LSDs in their practice. In India the prevalence could be anywhere between one in 3000- 5,000 live births. Calculating with the birth of 27million babies born every year, the burden of these disorders are much higher compared to developed countries and much more so in South India where related marriages are high. We studied the spectrum of LSD’s in Hyderabad over a three year period (2012-2015) and detected 30% of suspected patients had LSD’s. In all these cases, major proportion is treatable with enzyme replacement therapy. Unfortunately, we could not provide treatment as the cost of treatment is very expensive. However a few of them received enzyme replacement by the courtesy of Genzyme and Shire companies and you can see the vast improvement in the clinical picture and leading a normal life. On the other side, those who could not be treated, it is very sad to see the deterioration in health finally succumbing to the disease. We tried our best to get the treatment through state government help but in vein. In other states, Delhi government, Karnataka government for e.g., and the army are providing treatment to these children.” She also went on to elaborate that “ if people were to have a more charitable mentality , especially those who have the money, they should take at least one such child affected by a rare disease and give him/her treatment for life, I am sure these children will benefit. It is my dream to have a charity for these children established soon” She hoped.
Appealing to the state government of Telangana, Manjit Singh, President, Lysosomal Storage Disorders Support Society said: "Government have always been supportive and now we urge the government to take immediate action, more number of patients are dying. Though medical board has been formed but this is not enough for the current situation of patients. Our appeal is to provide us medical aid not money. Only government support can save these people and help such patients lead a dignified life. The need of the hour is a government scheme to provide free treatment and medical aid for patients with rare disorders. They are very few in number and it is the duty of the state to provide treatment for them."
Finally speaking on the occasion Smt Jayasudha, a noted cine actress who was the chief guest and brand ambassador to the cause has assured all sorts of help and cooperation to take up the cause with the government authorities and also with the society. Expressing her solidarity with the children Smt Jayasudha urged the society and those with money to come forward and extend the help to provide treatment to these children. While stressing upon the measures to be undertaken to prevent occurances of such diseases, she asked those present in the meeting to take up a campaign against close family marriages prevalent in the society. The program witnessed gathering of doctors and young children suffering from extremely rare type of genetic disorders such as Gaucher, MPS, Fabry and Pompe for which there is treatment available but the cost of treatment is highly prohitable, not within the reach of common man. The doctors attended the program also conducted special medical camp to conduct special tests required and also given suggestions to parents.
About Rare Diseases:
A rare disease is a life threatening or chronically debilitating condition that only affects a very small number of people in the population. The last decade has witnessed development of most of the official programs for rare diseases in various parts of the world as this disease is a life threatening or chronically debilitating condition that only affects a very small number of people in the population. Any therapy developed to treat a rare disease thus only has a very limited number of potential patients. It is estimated that there are approximately 7,000 rare diseases in the world, considerable proportion of the world population - between 6% and 8%, or 420 million to 560 million people out of which approximately 72.6 million are estimated to be Indians. A majority of LSDs are managed through supportive care measures that are disease-specific. However, six of the LSDs can now be treated through Enzyme Replacement Therapies (ERTs). India currently has about 300-400 patients who have been diagnosed with treatable LSDs. Presently in Andhra Pradesh and Telangana there are more than 1000 affected patients with LSD. Around 80% of rare diseases have a genetic origin & rest is the result of bacterial and viral infections, allergies or degenerative causes. Most rare diseases (75%) are manifested early in life and affect children from 0-5 years of age. These patients contribute significantly to morbidity and mortality in the first 18 years of life & due to the lack of provision in the healthcare system their families end up bearing the burden of managing the costs of therapy. Such disturbing indicators make it necessary to create a policy or provision in the healthcare system to ensure a better future and social inclusion for these children and their families. Lysosomal Storage Disorders (LSDs) is a result of disorder in special chemicals called enzymes, are found in special compartments in the body’s cells called lysosomes that are required to break down certain substances in the body. They are found in special compartments in the body’s cells called lysosomes, hence the name LSDs. LSDs affects multiple organs and cause progressive physical and/or mental deterioration over time. These diseases result in severe debilitating medical complications in the form of developmental delay, movement disorders, seizures, enlarged liver, enlarged spleen, bone crisis, pulmonary and cardiac problems.
About LSD Support Society - The LSD Support Society (LSDSS) is a group of patients and their families, who aims to create a strong voice for LSD patients in India by forming national support group. LSDSS campaigns for early diagnosis with effective, affordable and safe therapies for rare diseases such as Gaucher, MPS, Fabry and Pompe. It strives to provide information and support for patients affected with rare diseases as well as creating awareness among general public and decision makers about pain, treatment & how they should be treated in society.
