Delhi observes day for rare disease-affected kids
February 28th, 2010 - 3:59 pm ICT by IANS ( Leave a comment )New Delhi, Feb 28 (IANS) If you have never heard of MPS or Pompe, it isn’t surprising - they are rare diseases. And to raise awareness about these chronic, debilitating diseases, India’s first ‘Rare Disease Day’ was observed here Sunday.
Organised by the Lysosomal Storage Disorders Support Society of India (LSDSSI), the day witnessed a unique gathering at Sir Ganga Ram Hospital here of over 90 patients from across India suffering from the rarest of rare diseases.
LSDSSI is a national level patient group catering to the patients suffering from Lysosomal Storage Disorders (LSDs), a sub-group of rare genetic diseases caused due to deficiency of one particular enzyme in the body.
One such family was that of Manjit Singh, whose two sons are suffering from MPS II (widely known as Hunter syndrome), a serious genetic disorder. While elder son Anmol, 19, was diagnosed in 1995 with MPS I, younger son Prabmol too diagnosed positive for MPS-II, a severe form of MPS-I in 2006.
Both brothers are very short in height, with Anmol standing at 136 cm and Prabmol at 134 cm. They suffer from hearing problems (especially in winters), insomnia, hernia, and coarse skin and hair, among others.
- She fights genetic disorder with art (Feature) - Sep 24, 2011
- Blood-clotting agent can be used to diagnose fatal genetic diseases - Feb 04, 2011
- New study sheds light on potential treatment for Gaucher's disease - May 10, 2010
- Stem cell transplantation may correct rare genetic disorder in kids - Sep 18, 2009
- Blood cells successfully reprogrammed - Nov 10, 2009
- Gene discovery could shed light on foetal, childhood growth retardation - Mar 06, 2011
- Scientists identify gene behind rare brain disorder - May 09, 2011
- Zeta-Jones 'hopes to remove stigma from depression' - Apr 21, 2011
- Iraqi boy overcomes rare vein disorder in Delhi - Dec 14, 2010
- Stress triggers Catherine Zeta-Jones's bipolar disorder - Apr 16, 2011
- Meet Daisy, 3, who cannot swallow food - Mar 15, 2010
- Early recognition, treatment can control obsessive-compulsive disorder - Apr 02, 2011
- Second opinion helps pinpoint bipolar disorder - Mar 13, 2011
- 6-month-old, Asia's youngest, operated for rare bleeding disorder - Sep 22, 2010
- Book Introduced To Deal With Prader Willi Syndrome - Jan 27, 2011
Tags: debilitating diseases, ganga ram hospital, genetic disorder, hearing problems, hernia, hunter syndrome, India, insomnia, lysosomal storage disorders, manjit singh, mps, New Delhi, patient group, rare disease, rare diseases, rare genetic diseases, sir ganga ram hospital, storage, younger son
