SANFILIPPO SYNDROME

SANFILIPPO SYNDROME

The MPS Family of Diseases

There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children born with Mucopolysaccharide or MPS are unable to produce one of the enzymes essential for this process. Used materials cannot be broken down and remain stored in the cells of the body.

Babies born with one of the nine forms of MPS may show no sign of the disease, but as more and more cells become damaged by the storage of used material, symptoms begin to appear. Sadly the MPS family of disease is progressive which lead to an increase in symptoms and the problems they create as the years go by.

Sanfilippo Syndrome

Sanfilippo Syndrome is one of nine mucopolysaccharide diseases. Also known as MPS lll, it takes its name from Dr. Sanfilippo who was one of the doctors who first described the condition in 1963. MPS III is subdivided into 4 similar subtypes. Sophie suffers from the particular subtype MPS III B.

How does the disease progress?

Children begin life without any symptoms, and the early effects of the disease such as diarrhea, frequent respiratory and ear infections and boisterous behavior are among the most common seen in all children. Doctors must be perceptive enough to recognize that something serious is wrong and perform specialzed urine and blood tests to help reach a diagnosis.

Both parents of affected children are carriers, and each child they conceive has a 25% chance of being affected with the disease. As many children are not diagnosed for several years, it is not unusual for families to have had more than one affected child before the diagnosis is established.

The disease will affect children differently and its progress will be much faster in some cases than in others. A Sanfilippo child's pre-school years may be very frustrating for parents. They begin to worry as their child starts to lag behind their friends' children in development and they may feel they are being blamed for the child's overactive and difficult behavior.

The second phase of the condition is characterized by extremely active, restless and often very difficult behavior. Some children sleep very little at night. Many will be into everything, and can be described as hyperactive. Many like to chew; hands, clothes, or anything they can get hold of. Sadly, during this phase language and understanding will gradually be lost and parents may find it hard not being able to have a conversation with their child. Many will find other ways of communicating, perhaps using sign language. Some children never become toilet trained and those who do will eventually lose this ability.

In the third phase of the disease Sanfilippo children begin to slow down. They become more unsteady on their feet, tending to fall frequently as they walk or run. Eventually they will be confined to a wheelchair. Most Sanfilippo patients do not live past their mid-teens.

Towards a Treatment and Cure

At present there is no treatment or cure for Sanfilippo Syndrome, however several promising studies are currently underway. “Strides for Sophie” is being run in support of the “Sanfilippo Children’s Research Foundation”, the only Canadian charity dedicated to funding research directed specifically towards finding a cure.



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