FRIDAY FACTS! Rare Genetic Diseases

Welcome to Friday Facts! on the Knowledge Safari blog. Each Friday we aim to shine the spotlight on a particular area of special needs in order to provide information and raise awareness. Today we are focusing Mucopolysaccharidoses (MPS) one of many Rare Genetic Diseases.


Taken from the National MPS Society website:

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.

What are the Major Characteristics of MPS and Related Diseases?
While the symptoms of the diseases may vary from one syndrome to another, there are many similarities. Affected individuals often have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.

Research is helping today's families
Although there is currently no cure for MPS, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy are among today's research themes and treatment options. Bone marrow and cord blood transplantation have been considered successful for many, though relatively few individuals qualify for this high-risk procedure. We've made major advancements in research thanks to the fundraising efforts of the Society and its members.

We have become aware of one little boy named Trey who has MPS. You can read about him and his family HERE.

There is a silent auction going on as a fundraiser for the family, we are not asking you to donate, just letting you know about the function. Click HERE




We send our support to Trey and all other families dealing with Rare Genetic Diseases, including Janis and Austin of the blog Sneak Peek at Me - click HERE to read more. Janis let me know about Rare Genetic Disease Day which is February 28, 2010. The Global Genes Project along with others will be raising awareness through various events including...encouraging everyone to wear jeans to show their support!

That should be easy enough to do! Read more about the effort HERE.

Share your thoughts with us in the comments section!

Make sure to enter today's GIVEAWAY! A great one from Let Kids Play!