By IANS,
New Delhi : 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.