Lately, I’ve been learning a lot about mucopolysaccharidoses (MPS). MPS covers a lot of territory. It refers to when the body is missing a particular enzyme–it doesn’t matter which one: Missing any enzyme places a person in the MPS pool.
What happens when the body either doesn’t manufacture the enzyme, or doesn’t use it properly? Enzymes break down and reuse cellular materials. Without the breakdown, the materials are stored in every single cell in the body, and over time, it causes problems, such as organ failure.
Mucopolysaccharidosis is a lysosomal storage disorder, and in almost all cases, it is genetically passed down when both parents have a copy of the same defective gene.
There is an organization in Canada called The Isaac Foundation that has been tirelessly raising funds to research into treatments and possible cures for MSP. It was created by the parents of a little boy who was diagnosed with mucopolysaccharidosis, but the web site is not about the child. It’s about awareness. It’s about hope. It’s about coming together to find a solution.
In the United States, The MPS Society provides resources to patients and families. This organization, like The Isaac Foundation, seeks to raise awareness, educate, and provide help to families who are battling one form of mucopolysaccharidosis, or another.
Currently, there is no cure for mucopolysaccharidosis, but with enzyme replacement therapy, and the field of gene therapy advancing by leaps and bounds, there is a brewing feeling of optimism, like the gathering of rain clouds after a very long drought.
