Shortly after Lauren’s second birthday, we began to recognize changes in her behavior.



There is one specific incident that we recall as a sure sign of Lauren’s decline neurologically. She burned her hand on mom’s curling iron. She held onto the hot iron as though she was not aware that she should drop it. This delay in her reaction lead to 2nd and 3rd degree burns on her hand. There was even a delay in her cry; much like it didn’t register until seconds later that the hot iron really hurt. Following, she began to lose speech, language, and cognitive skills. Loss of coordination caused her to become very clumsy and resulted in frequent falls. All of these concerns lead to a year of investigating with multiple
specialists and diagnostic testing.



There were many vials of blood drawn, urinalysis testing, and a skin biopsy (it looks like a small circular burn on her right arm). All of which put the pieces of the puzzle together resulting in the devastating, fatal diagnosis of Sanfilippo Syndrome. The years following were very difficult not only for Lauren, but our entire family. Seeing your child develop normally and then gradually lose their abilities to function in life is very difficult. Even with aggressive therapeutic sessions of Physical, Occupational, and Speech therapies, we could not prevent the rapid decline.



Within a year of her diagnosis, Lauren completely lost her ability to speak. Shortly following, her gross motor skills declined until she was unable to coordinate her body to walk.Today… Lauren’s health continues to decline. She no longer has the ability to walk, sit up, or swallow. She is fed by means of a feeding tube and formula. She occasionally has seizures, but they are primarily controlled by medication. She wears diapers, which leads to frequent bladder infections. Bladder infections are controlled by a maintenance antibiotic given once a day. Her immune system is suppressed so colds can easily become pneumonia. Fortunately, Lauren has had a great winter this year and has only experienced a few respiratory infections. The most common infections that we battle are ear and sinus infections due to the thickening of the tissue in her sinus cavities caused by Sanfilippo. Infections around her feeding tube site are also common concerns. Typically, antibiotics treat these infections, but they lead to diarrhea and terrible skin breakdown.