Patients with rare genetic disorder seek support
16 May 2013 6:47 AM IST
Little Prisha is not normal like other children. She was overweight and also suffered from pneumonia when she was just four months old. She has coarse features, a big forehead, neck tilted to one side and a flat nose. The girl was diagnosed with MPS (Mucopolysaccharidoses) a rare genetic disorder that occurs in only one of every 25,000 people.
Highlighting the plight of such kids and their families, an appeal was made to Delhi Chief Minister Sheila Dikshit to support these patients on the occasion of International MPS Awareness Day on Wednesday.
IC Verma, director, Centre for Medical Genetics, Sir Ganga Ram Hospital said, ‘We should strongly advocate effective government intervention in this domain’.
The rarity of the disease should in no way act as a deterrent for financial assistance not being offered to patients’.
Local parliamentarians should also come forward and help.’
The day witnessed a gathering of young children suffering from a group of extremely rare type of genetic disorders, Lysosomal Storage Disorders (LSD), accompanied by their families, with a hope for a better future for themselves. Experts like Madhulika Kabra, additional professor and officer-in-charge, Genetics Unit, department of Paediatrics, AIIMS, I C Verma, director, Centre for Medical Genetics, Sir Ganga Ram Hospital, and Seema Kapoor, professor, department of Paediatrics, Genetics division, Maulana Azad Medical College, were present on the occasion.
MPS has been classified as a Lysosomal Storage Disorder (LSD), which as a category occurs among one in 5,000 live births.
Each of over 40 individual LSDs are consequences of deficiency in the movement of a specific protein (enzyme) which is usually present in all cells in our bodies.
Highlighting the plight of such kids and their families, an appeal was made to Delhi Chief Minister Sheila Dikshit to support these patients on the occasion of International MPS Awareness Day on Wednesday.
IC Verma, director, Centre for Medical Genetics, Sir Ganga Ram Hospital said, ‘We should strongly advocate effective government intervention in this domain’.
The rarity of the disease should in no way act as a deterrent for financial assistance not being offered to patients’.
Local parliamentarians should also come forward and help.’
The day witnessed a gathering of young children suffering from a group of extremely rare type of genetic disorders, Lysosomal Storage Disorders (LSD), accompanied by their families, with a hope for a better future for themselves. Experts like Madhulika Kabra, additional professor and officer-in-charge, Genetics Unit, department of Paediatrics, AIIMS, I C Verma, director, Centre for Medical Genetics, Sir Ganga Ram Hospital, and Seema Kapoor, professor, department of Paediatrics, Genetics division, Maulana Azad Medical College, were present on the occasion.
MPS has been classified as a Lysosomal Storage Disorder (LSD), which as a category occurs among one in 5,000 live births.
Each of over 40 individual LSDs are consequences of deficiency in the movement of a specific protein (enzyme) which is usually present in all cells in our bodies.
Next Story
