Recently, two brothers, both afflicted by a rare condition known as Mucopolysaccharidosis II or MPS II (Hunter Syndrome, Attenuated Type), have taken their plea for aid to the Delhi High Court. Their petition calls for free treatment, focused towards the Centre and AIIMS. The MPS II condition is a rare, familial disease that tends to manifest most often in males.
About MPS II
MPS II primarily affects boys and impairs their bodies’ ability to break down a kind of sugar that contributes to the construction of bones, skin, tendons, and other tissues. The inability to break down these sugar molecules often leads to a variety of issues.
Cause of MPS II
The onset of MPS II results from mutations of the IDS gene. This gene plays a crucial role in controlling the production of the iduronate 2-sulfatase (I2S) enzyme. The body requires this enzyme to break-down complex sugars, known as glycosaminoglycans (GAGs), produced within the body.
Impact of MPS II
Without the I2S enzyme, GAGs begin to accumulate within cells, specifically inside compartments known as lysosomes. These lysosomes are responsible for digesting and recycling different types of molecules. Conditions like MPS II, which cause molecules to build up inside lysosomes, fall under the category of lysosomal storage disorders. The buildup of GAGs enlarges the lysosomes, leading to an enlargement of many tissues and organs within the body.
Symptoms of MPS II
Those who suffer from MPS II often display distinctive facial features, a large head, and enlarged liver and spleen (hepatosplenomegaly). Hearing loss is also a common symptom amongst sufferers.
Inheritance of MPS II
MPS II is inherited predominantly in an X-linked recessive pattern, indicating that the condition occurs almost exclusively in males. Generally speaking, females remain carriers of this condition without being directly affected. In a family where more than one individual is affected, the mother must be a carrier. For every child a carrier female has, there is a 25% chance (or 1 in 4) that she will have a son affected by the condition.
Rare Diseases Overview
A rare disease is typically a condition with low prevalence, affecting a small number of people when compared to other more common diseases. Despite their low individual rates and rarity, collectively, rare diseases impact a significant proportion of global populations. It’s also worth noting that 80% of rare diseases are genetic in origin and, as a result, disproportionately affect children.
Most recently, the Delhi High Court ordered the Centre to finalize the National Health Policy for Rare Diseases of 2020 by March 2021. It was also emphasized that operational provision of crowdfunding, as outlined under the law for high-cost rare disease treatments, should be made available.
