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13th Annual Pennies for Nicoll Golf Classic

Monday, July 14, 2014
1pm Shotgun

The Country Club of Colorado

About Sanfilippo Syndrome (MPS-III)

What is MPS?

LindseySanfilippo 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.

AnnabelleThere 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.

KellieSanfilippo syndrome was first described in 1963 by Dr. Sylvester Sanfilippo and is considered rare, with an occurrence rate of 1 out of every 25,000 live births. It is an autosomal recessive hereditary disorder in that both parents have to be carriers of the defective gene and must both pass the gene on to the child in order for the child to be affected. There is a one in four chance of having a child born with Sanfilippo syndrome when both parents are carriers. There is also a two in three chance that unaffected children will be carriers.

What Happens to the Children?

ReeseChildren with Sanfillppo syndrome appear normal at birth, and develop normally throughout infancy.  In the pre-school years, they start lagging behind their peers, loosing skills that had mastered as a toddler.  This stage is marked by hyperactivity, behavioral problems, sleep dysfunction and developmental delay.  As the damage builds up in every cell, the severity of the disorder worsens.  Children lose their ability to talk, walk, sit up, and swallow food.  Their final years are spent confined to a wheelchair, in diapers, with IV sedation, pain medication, and a feeding tube.  The children slowly die of vital organ failure in the teenage years.

Is There a Cure?

Currently there is no cure for Sanfilippo syndrome.

Is There Hope?

Dr. Joanne Kurtzberg, Duke University Hospital, pioneered an experimental stem cell transplant for Sanfilippo syndrome. Results are proving to halt the progression of the disease is treated at a young age.

What is the Process?

CamFollowing intense chemotherapy, children are infused with non-embryonic stem cells harvested from umbillical cord blood of full-term, healthy delivered babies. The stem cells provide a permanent source of the missing enzyme. 

SamChildren are hospitalizes and may become violently ill for months.  They are kept in isolation for at least a year due to a compromised immune system.  Although the risks of the procedure are gruesome and life-threatening, the reward is HOPE for a better life. 


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