Sanfilippo Syndrome is a mucopolysaccharide disorder (also known as MPS - III). Children with this disorder are missing an enzyme they need to break down mucopolysaccharides or mucus sugar molecules. Those unbroken down molecules collect and are stored in the child’s body. Over time, they interfere with normal functions and cause progressive and permanent damage. As more and more cells are damaged, symptoms of Sanfilippo begin to appear. The disease has four types, Type A, Type B, Type C and Type D. They are distinguished from each other based on their rate of progression, type A being the most serious and fastest-moving. Lauren Reed has Type A Sanfilippo Syndrome.
Sanfilippo progresses in stages. First stage symptoms start to manifest themselves at toddler age and include developmental lag in motor or language skills or impaired vision. Since Sanfilippo is rare, striking only about 1 of every 70,000 children, doctors don’t pursue this diagnosis initially, only after many other tests have returned negative results. Children suffering from this disorder will be affected at different rates, some progressing more quickly than others through the stages of the desease.
Second stage Sanfilippo patients may be extremely active, restless and exhibit very difficult behaviors like sleeping very little at night, getting into everything, chewing on their hands, clothes or other objects. Their language skills and even understanding of language will gradually be lost, making it difficult to communicate with them. Depending on the child’s age in stage two they may never become toilet trained, or they may loose that ability.
In the third and final stage of Sanfilippo, patients loose motor skills until they are eventually unable to walk and become bed-ridden. Brain functions are reduced until they finally become completely unresponsive.
Currently, there is there is no cure for Sanfilippo Syndrome, but some experimental treatments are currently under development aimed at replacing the missing enzyme, like the one being offered at Duke University Medical Center in Durham, N.C. The treatment surgery involves transplanting stem cells from a relative into the patient. The hope is that after four to six months, the new stem cells will be able to stop the disorder from progressing. More about the procedure.
Sanfilippo takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963.
The information above was gathered from the National MPS Society Web site at www.mpssociety.org/mps3.html and the special child disorder Web site: http://www.specialchild.com/archives/dz-034.html.
