Today is International MPS Awareness Day
Submitted by Dr. Gwenn Is In
Today is MPS awareness day. MPS is a rare genetic disease that occurs in 1 out of every 25,000 live births. MPS stands for mucopolysaccharidoses and is actually “a family of rare, potentially fatal genetic diseases that occur because of the inability to produce specific enzymes.” It is one of the lysosomal storage diseases and there are actually 7 types. Some of the names you may be familiar with: Hurler Syndrome (type I), Hunter Syndrome (type 2). The symptoms depend on the type and the extent of that type. So, that creates a challenge in diagnosis. According to the National MPS Society, typical symptoms include: “mental retardation, cloudy corneas, short stature, stiff joints, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span”. There is no cure but there are enzyme replacement treatments available. You can find more information about MPS and treatment options here.
I like to help spread the word about conditions like MPS for a number of reasons. First, awareness is key to fund raising which is so crucial to advancing science and helping with treatment options and improving quality of life. Equally important, however, awareness is how we create an empathetic society so we all learn to live together and help each other out no matter what. I know this sounds lofty but we’ve become a very isolated society in many ways and our kids don’t always know how to deal with “different”. Awareness helps make “different” less frightening. Awareness helps kids want to help other kids, no matter what. And, those kids will grow up to become adults who will want to help other adults, no matter what. So, that’s why I like to spread the word about rare conditions.
Physicians, click here to join the search for a cure and get more information. Rare disorders require us all to hit the books and lean on experts to help us learn the symptoms to be on the look out for. Most of us have the radar of when something is amiss. Sometimes we know that a patient has a syndrome but then become lost in the maze of syndromes and don’t know where to go next. Resources such as those from the MPS Society can help us get people to the right care quicker because we’ll better recognize those patients as possible MPS patients.
So, before you move on and say “this doesn’t impact me”, take a moment to realize that it does. We all live in the same world. Today the MPS Community needs a boost but tomorrow something you are doing may need a boost. What goes around does come around when it comes to community awareness, empathy, and humanity.
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