International MPS Day
This Tuesday, May 15, is International MPS Awareness Day.
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. Individuals with MPS have a dramatically shortened life span.
As most people know, our son Max was born with MPS 1 - Hurler Syndrome, and like so many other children born with this disease, he passed away from complications from a stem cell transplant 3 1/2 years ago. He died far too young, and we have suffered far too much. Tuesday is a day that many families like ours will be taking a moment to remember, recognize, and rejoice in each other. We ask only that you consider this email a reminder of this day, and that MPS disorders are just one of far too many diseases that are too rare for cures to be funded properly. "Awareness" means an increased understanding of the reality and presence of something otherwise unknown. We had not heard of MPS or Hurler Syndrome before our son was born, and we certainly had no idea that our beautiful boy - so pure and full of love - would be gone so soon.
Perhaps you will have a moment this year to make a contribution to a charity of your choice. Please consider the National MPS Society. It is a grassroots group of families who have created a community to engage with doctors, pharmaceutical companies, and each other to work continually towards future cures and current quality of life concerns.
To make a donation or to learn more, please visit:
http://www.mpssociety.org/
Thank you for your support,
Mike, Margaret & Grace Ciacciarelli
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. Individuals with MPS have a dramatically shortened life span.
As most people know, our son Max was born with MPS 1 - Hurler Syndrome, and like so many other children born with this disease, he passed away from complications from a stem cell transplant 3 1/2 years ago. He died far too young, and we have suffered far too much. Tuesday is a day that many families like ours will be taking a moment to remember, recognize, and rejoice in each other. We ask only that you consider this email a reminder of this day, and that MPS disorders are just one of far too many diseases that are too rare for cures to be funded properly. "Awareness" means an increased understanding of the reality and presence of something otherwise unknown. We had not heard of MPS or Hurler Syndrome before our son was born, and we certainly had no idea that our beautiful boy - so pure and full of love - would be gone so soon.
Perhaps you will have a moment this year to make a contribution to a charity of your choice. Please consider the National MPS Society. It is a grassroots group of families who have created a community to engage with doctors, pharmaceutical companies, and each other to work continually towards future cures and current quality of life concerns.
To make a donation or to learn more, please visit:
http://www.mpssociety.org/
Thank you for your support,
Mike, Margaret & Grace Ciacciarelli
posted by Mike Ciacciarelli
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