Grace is a beautiful little girl born on November 27th, 2000. She is a happy girl that loves to eat, watch television, and run around with her sister Julia, age 9. She attends preschool daily and loves being around other children. Her favorite foods include rice cakes, apples and ice cream. The Powerpuff Girls, Barney and The Wiggles are her television shows of choice. Julia came up with a game she calls "chase" where she runs around the house while Grace chases her laughing hysterically. They have also been playing a lot of hide-and-seek lately.

Grace was diagnosed with a rare genetic disorder called Sanfilippo Syndrome. Sanfilippo Syndrome is a mucopolysaccharide disorder and is also known as MPS III and is inherited by both parents. Mucopolisaccharidoses are genetic lysosomal storage disorders caused by the body's inability to produce specific enzymes. Enzymes within the body break down and recycle cells after the cells die. Those with the disease are missing the enzyme which prevents the normal break down and recycling of cells. As a result, the storage of these cell deposits gather in virtually every cell of the body. As a result, cells do not perform correctly which causes progressive damage throughout the body, including the heart, liver, bones, joints, respiratory and nervous system.

Children with the disorder appear normal at birth and seem to develop typically for the first year or two, but as more and more cells become damaged symptoms become evident. Early symptoms are lack of sleep, restlessness, and the strong desire to chew on anything. Later, the inability to toilet train, loss of speech, chronic diarrhea, and eventually mental retardation. Finally, the inability to walk, swallow and entrance to a vegetative state. 1 in 25,000 live births result in some form of mucopolysaccharidosis with most succumbing by the age of 20. There is no cure.

Our goal is to contribute as much as we can to help fund research toward a cure for this devastating disease. Researchers have been working on this exact syndrome, Sanfilippo Disease Type B. They have found a way to duplicate the enzyme which Grace is missing, and have successfully used it in other types of MPS disorders. In Grace's case the disease attacks her brain. Researchers are currently working on ways to break through the "blood brain barrier" so that the enzyme can be administered where it is needed.
It is incredible how much progress can be made toward curing a disease when there is public awareness and significant funding available. As of yet, there is not enough of either of these things for our Grace and others like her. We plan to help change all that...