1. Welcome A nonprofit organization dedicated to raising public awareness for sanfilippo syndrome and other neuro-genetic disorders afflicting children. http://www.curekirby.org/

LATE BREAKING NEWS........To date, this not-for-profit Foundation has granted over 2.5 million dollars. Fourteen-year-old Kirby Wilson was diagnosed with Sanfilippo "B" Syndrome, a rare and catastrophic genetic disorder in 1995, at the age of four. Kirby and thousands of afflicted children like her have a life expectancy of between 15 and 20 years. There is no cure or treatment... yet. The Children's Medical Research Foundation, Inc. was formed by Kirby's parents in 1995 to fund medical research and find a cure for Sanfilippo Syndrome and other neuro-genetic disorders. To date, the not-for-profit Foundation has funded research at seven universities, with more than 95% of all receipts appropriated to fund research. We invite you to learn more about Sanfilippo Syndrome, the Foundation, its work and how to help pave the way for a healthy future for Kirby and others like her. Questions or problems regarding this web site should be directed to curekirby@sbcglobal.net

2. National MPS Society - MPS III: Sanfilippo Syndrome The National MPS Society is a nonprofit organanization advocating for families affected by the Mucopolysaccharide diseases. http://www.mpssociety.org/mps3.html

Home MPS III Sanfilippo syndrome is a mucopolysaccharide disorder and is also known respectively as MPS - III. It takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963. mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body. "saccharide" is a general term for a sugar molecule (think of saccharin) "poly" means many "muco" refers to the thick jelly-like consistency of the molecules There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with Sanfilippo syndrome are missing an enzyme which is essential in cutting up the used mucopolysaccharides called heparan sulfate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disorder, but as more and more cells become damaged, symptoms start to appear. N ew informative booklets are now available detailing the mucopolysaccharide disorders. These booklets are designed to be a day to day living guide for the MPS family and provide much insight as to the natural progression of the disorders in a positive and helpful manner. The booklets are also designed to be a tool for the professional who will encounter MPS children and their families.

3. Special Child: Disorder Zone Archives - Sanfilippo Syndrome Describes the disorder for the benefit of parents, lists characteristics of children with the disorder, and tells what to expect. http://www.specialchild.com/archives/dz-034.html

Disorder Zone Archives Sanfilippo Syndrome Introduction Sanfilippo syndrome is a rare genetic disorder characterized by mental deterioration, mild physical defects, and behavioral problems. Sanfilippo syndrome, also considered a genetic error of metabolism, is a mucopolysaccharide disorder and is referred to as MPS - III. Mucopolysaccharides are long chains of sugar molecules which are used in building connective tissue. Typically, when the body is finished using these sugar molecules, it breaks them down with enzymes and disposes of them. Children with Sanfilippo syndrome, however, are missing the enzyme to breakdown the molecules and instead store them in cells in their body. The storage of these molecules then causes progressive damage. As a result, infants may not show signs of the disorder, but as the child grows and more cells become damaged, the symptoms become more obvious and worsen. There are four different enzyme deficiencies that cause Sanfilippo syndrome, therefore, the syndrome is classified as being either type A,B,C, or D. Type A is caused by a deficiency of the enzyme known as heparan sulfatase and is the most severe type with earlier onset and earlier death than the others. Type A is also the most common form of Sanfilippo syndrome. Type B is the second most common, and is the result of a deficiency of the enzyme known as N-acetyl-alpha-D-glucosaminidase (NAG). Type C is caused by a deficiency in acetyl CoA: a-glucosamine N acetyl transferase and type D is caused by a deficiency in N acetyl glucosamine 6-sulphate sulphatase.

4. Welcome To Julia's Hope A nonprofit organization incorporated under the laws of the State of Nebraska to promote research toward a cure for sanfilippo syndrome and related http://www.juliashope.org/

Update: SSMRF awards $100,000 for research in 2005. Click here to read about 2005 research. Last Updated 8/22/05

5. Ben's Dream - The Sanfilippo Research Foundation Information about a foundation dedicated to increasing awareness of sanfilippo syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. http://www.bensdream.org

Right now Doctors can do little for Sanfilippo's symptoms and nothing to stop the catastrophic regression Ben faces. That is why we created the Sanfilippo Research Foundation. Our mission is to promote awareness and raise funds to support research aimed at finding a cure so Benjamin and his friends can realize their dreams. We invite you to explore our website to learn more about Benjamin, Sanfilippo Syndrome, the Foundation, our efforts and how you can help. Privacy Statement Questions regarding this website should be directed to info@bensdream.org Last modified: June 13, 2005. www.bensdream.org is sponsored by

6. National MPS Society - MPS III Sanfilippo Syndrome sanfilippo syndrome is a mucopolysaccharide disorder and is also known respectively as MPS III. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. What Is Sanfilippo Syndrome sanfilippo syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. http://www.curekirby.org/aboutsan.htm

What is it? Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, dementia and typically death before adulthood. There is no cure, yet. Sanfilippo Syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. The Sanfilippo disorders are described as type A, B, C, or D. There is very little difference between the four types, though there have been a few very mild cases of the B form reported where the children have remained relatively healthy into early adult life. Kirby is Not Alone While it is estimated that Sanfilippo occurs once in 24,000 births, every year thousands of children are diagnosed with one of more than 5,000 rare genetic disorders. Many more are not diagnosed. Successful research into Sanfilippo will apply directly to many of these rare conditions. There is No Cure Yet... Only Hope

8. National MPS Society - The National MPS Society is a nonprofit organanization advocating for families affected by the Mucopolysaccharide diseases. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Welcome To Julia's Hope A nonprofit organization established to promote research toward a cure for sanfilippo syndrome, Type A, and related disorders in children. http://juliashope.org

Update: SSMRF awards $100,000 for research in 2005. Click here to read about 2005 research. Last Updated 8/22/05

10. Check Out The Style For A Good Cause by keyword Current Archive ments The Herald is owned by http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Special Child Disorder Zone Archives - Sanfilippo Syndrome sanfilippo syndrome is a rare genetic disorder characterized by mental deterioration, mild physical defects, and behavioral problems. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Julia's HopeThe Sanfilippo Syndrome Medical Research Foundation A nonprofit organization incorporated under the laws of the State of Nebraska to promote research toward a cure for sanfilippo syndrome and related http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Julia's Hope--Research sanfilippo syndrome is a lysosomal storage disorder caused by a genetic abnormality. Children with sanfilippo syndrome lack the ability to produce an http://www.juliashope.org/research.htm

Julia's Disease: Sanfilippo Syndrome Type A Sanfilippo Syndrome is a lysosomal storage disorder caused by a genetic abnormality. Children with Sanfilippo Syndrome lack the ability to produce an essential enzyme that helps the body break down a substance called heparan sulfate. As this substance slowly accumulates in cells, especially brain cells, normal childhood development gives way to hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death at 10-15 years of age. There are four variants of Sanfilippo Syndrome, classified as types A, B, C, and D. Although clinically very similar, the four types constitute four different enzyme deficiencies. Julia has type A, considered the most common and aggressive form of the disease. Successful research into any of the four types of Sanfilippo syndrome will apply to many of 5,000 other genetic disorders. Click here for more information about Sanfilippo Syndrome.

14. Ben's Dream - The Sanfilippo Research Foundation Information about a foundation dedicated to increasing awareness of sanfilippo syndrome and raising funds to support research aimed at finding a http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. MedlinePlus Medical Encyclopedia: Sanfilippo Syndrome sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, In sanfilippo syndrome, large amounts of a mucopolysaccharide called http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Sanfilippo syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Definition Return to top Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate are excreted in the urine. Causes, incidence, and risk factors Return to top Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life.

16. Helpachild.net All 3 of the Bennett children have recently been diagnosed with sanfilippo syndrome, a rare genetic disorder that often leads to death before the http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Mucopolysaccharidosis (MPS) III (A, B, C, D) Type B Synonyms sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) Type D Synonyms sanfilippo syndrome D mucopolysaccharidosis IIID (MPS http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome465.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome mucopolysaccharidosis (MPS) III (A, B, C, D) Synonyms Sanfilippo disease (A, B, C, D) Sanfilippo syndrome (A, B, C, D) heparitinuria HS-mucopolysaccharidosis mucopolysaccharide storage disease III polydystrophic oligophrenia Summary Major Features Head and neck: Dull and slightly coarse facies, sclerotic mastoid bones, and thick posterior calvaria. Nose: Slightly sunken bridge. Mouth and oral structures: Protruding tongue in advanced stages. Abdomen: Visceromegaly. Hand and foot: Claw hand. Extremities: Restricted joint mobility of elbows and knees. Spine: Biconvexity of vertebral bodies. Muscles: Atrophy. Bones and joints: Mild dysostosis multiplex. Skin appendages: Abundant, coarse, and triangular in cross section hair. Nervous system: Deposits of heparan sulfate, ceramide polyhexoside, and GM1 ganglioside in the brain. Biochemical and metabolic features: Faulty degradation and urinary excretion of heparan sulfate with abnormal storage of glycosoaminoglycan in various tissues. Deficiencies of heparan sulfatase, N-acetyl-alpha-D-glusaminidase, aceyl-CoA:alpha-glucosamide N-acetyltransferase, and N-acetylglucosamine-6-sulfate sulfatase are the cause. Growth and development: Mental, motor, and speech deterioration and minimal growth retardation.

18. Helpachild.net :: Help Save The Bennett Children Founded by parents of three young children who suffer from sanfilippo syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support. http://www.claritystudio.com/helpachild/

What would you do if all 3 of your children had a fatal illness? This is the Bennett family in 2002, the year that all three of their beautiful little children were diagnosed with Sanfilippo Syndrome ( KXTV VIDEO a degenerative genetic disorder that is usually fatal before the teens. Ciara (at right in the photo) is 9 years old and Hunter (left) is 6 now. The family is still feeling the loss of their little son Tommy (center) at the age of 4 in December, 2003. See Going On Without Tommy Ciara and Hunter need your help Sanfilippo Syndrome children are missing an enzyme that normally breaks down sugars in the blood. As sugars accumulate throughout the cells in their bodies, they interfere with normal functioning and cause progressive damage to the brain, heart, lungs, muscles, and all body cells. Sanfilippo children have a life expectancy of 10-13 years and there is no cure. John and Alicia Bennett's lives revolve around the care of Ciara and Hunter. They are starting to make plans to attend this year's MPS Society Family Conference in Scottsdale, Arizona this November. It's a place for families with MPS children to hear speakers, and to meet and have fun. For more information about the Conference, visit the

19. Welcome A nonprofit organization dedicated to raising public awareness for sanfilippo syndrome and other neuro-genetic disorders afflicting children. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. NORD - National Organization For Rare Disorders, Inc. The CDG Family Network Web PageThe CDG Family Network Website. Quick Access Home Frequently Asked Questions Publications Join CDG Listserv Family Stories How You Can Help http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sanfilippo Sy

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