Polaczyk - Disability Pyschology

  Let's Recap from Blog One:  WHAT IS SANFILIPPO SYNDROME?  Easily described, it's when one has a defect in the genes that make enzymes needed to break down certain heparan sulfate. Heparan Sulfate can be described as: "Heparan sulfate proteoglycans at the cell surface and in the extracellular matrix act as receptors and coreceptors, with profound effects on growth factor action, cell adhesion, and tissue architecture." (Walton, 2024) What are the Symptoms In Sanfilippo Syndrome? Often being unseen in it's first few years of a child's life, it can cause symptoms such as: Behavioral problems, including hyperactivity. Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose. Chronic diarrhea. Enlarged liver and spleen. Sleep difficulties. Stiff joints that may not extend fully. Vision problems and hearing loss. Walking problems. These symptoms are often not seen until the early years of childhood, between the ages of 3-5. Mos...

  Sanfilippo Syndrome: Blog Post One By Jacqueline Polaczyk  What is Sanfilippo Syndrome?  Sanfilippo Syndrome is a rare, inherited disorder, also known as mucopolysaccharidosis type III.  It is a terminal neurodegenerative rare disease that causes children to lose all skills they have gained, suffer seizures and movement disorders, and often is fatal before children reach their second decade of life.  (Boston Children's Hospital, n.d.) Haidyn Fowler, 7, has had Sanfillipo since birth.  leaving her in near-constant pain and unable to spea k. Sanfilippo Syndrome affects 1 in every 70,000 births. It is a rare disease, that unfortunately has a 100% mortality rate. Children are typically diagnosed later in their childhood (3-5) as symptoms progress, and typically only live into their teens or early 20's. Diagnoses can either be attenuated (less severe) or severe. Less severe cases usually manifests later in childhood and progresses slowly. Severe will manifest ...