The Jaiswal family of Lucknow, the capital of Uttar Pradesh state in northern India, knows firsthand that rare diseases are not always that.
CheckOrphan has reported that three of his four children have been diagnosed with Mucopolysaccharidosis-I (MPS-I), a rare condition that might affect one in 100,000 around the world.
What is Mucopolysaccharidosis-I?
Mucopolysaccharidosis-I is a condition resulting from a mutation in the IDUA gene. This gene is responsible for coding the production of an enzyme used by the body to break down large sugar molecules called glycosaminoglycans (or GAGs). Glycosaminoglycans were originally called mucopolysaccharides, which is where the condition got its name. This writer approves of the renaming – it really flows off the tongue much better.
The genetic mutation causes a major shortage in the number of IDUA enzymes, meaning cells in the body cannot effectively break down GAGs that enter them. These sugars build up across the body and cause a multitude of complications from macroencephaly (expansion of the brain) to blindness caused by clouding in the corneas. In some patients, it causes learning disabilities. Others are mentally unaffected whatsoever.
In fact, the disease is so rare it’s often missed by newborn and pregnancy screenings. Families must get genetic tests done to confirm a diagnosis.
There is no known cure, and the current method of treatment is enzyme replacement therapy. However, a diminishing quality of life is nearly universal. Depending on how the condition manifests itself, it can result in a severely shortened lifespan.
The Jaiswals
Dinesh Jaiswal, a tailor in Lucknow, first knew something was wrong with his 6 year old daughter, Ranjana, when she could not straighten her fingers for her grandmother, who was applying henna to the hand for a festival.
A pediatrician saw Ranjana and kept her on medications for two months with no results before sending her to an orthopaedist. The orthopaedist didn’t have any luck either. Clinicians were stumped.
Finally, in 2012, the now 7-year-old Ranjana arrived at Sanjay Gandhi’s Post Graduate Institute of Medical Sciences, where she was diagnosed with MPS-I. Her siblings, Kalpana and Vivek, were also positively diagnosed.
Medicine for the condition is expensive. Each month the family spends Rs 1,500,000 on medication – that’s $21,000. They fear the worst for their children, who are sadly likely to suffer fatal complications from the disease in the future. The Jaiswals have resolved to champion the cause of people suffering from rare diseases in India.
Rare Diseases in India Aren’t so Rare
CheckOrphan reports that Indians have a higher prevalence rate of rare diseases due to the insular nature of many communities.
The Indian health ministry has speculated that as many as 80,000,000 Indians might suffer from rare illnesses. Despite the ministry providing free screenings for MPS-I and other genetic diseases in various locations, many remain unaware of their family’s status.
International experts estimate that some 6-8% of Indians may have rare diseases, meaning they consider the Indian health ministry’s estimate to be a conservative one.
Do rare diseases run in your family tree? Is there a rare disease that seems more common in your area for some reason? Share your story with the Patient Worthy community!
