Angela's House
Coordination of Complex Home Care Services and Residential Services for Medically Fragile Children

In the News » Newsletter

Fall 2005 Edition
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Grace for a Cure

Angela's House works with over 300 children in our community that have life threatening illnesses, severe disabilities and special health care needs. It is not uncommon for us to see some of the rarest diseases or debilitating illnesses affecting our children. One cannot imagine the bravery of families living with children that have a life threatening illness. Our mission is to help and this drives us to assist families caring for their children at home.

It is important for us to bring about awareness of the day to day lives of these children in our community. We share with you Grace's Story:

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 6. 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 mucopolisaccharide 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 mucopolisaccharidoses 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.

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…Grace's Parents. For more information you can visit www.graceforacure.org.

 

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