MPS Awareness Day

AlisonMacKay
AlisonMacKay Posts: 112 Member
edited September 2024 in Chit-Chat
Hello all my MFP friends - Today is a very special day for me. Today has been designated as MPS Awareness Day. My twin boys (age 3) were diagnosed with MPS IV or Morquio Syndrome in June of 2010. This syndrome has no treatment or cure and those who have this syndrome usually only live into their 30s. There has only been 4500 cares diagnosed in the World. Please read the following about this syndrome:

What is MPS?

Mucopolysaccharidoses (MPS) is a genetic lysosomal storage disease 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, 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.

What is MPS IV?

Following definition is from National Organization of Rare Diseases www.rarediseases.org

“Morquio Syndrome (mucopolysacchridosis type IV; MPS IV) is a mucopolysacchride storage disease that exist in two forms (Morquio A and B) and occurs because of a deficiency of the enzymes n-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to a build of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, people with Morquio Syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees), flat feet, abnormal sideways and front to back or side to side curvature of the spine, abnormal development of the growing ends of the long bones, and/or a prominent breast bone. Hearing loss, weakness of legs, and/or additional abnormalities may occur.”

You can follow my family's journey on FaceBook, type Jack and Hunter in the search bar. You can also follow on their web page at www.jackandhunter.wordpress.com

Thank you for your time.

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