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BLOG 6: Disability Laws and Information

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 BLOG 6: Sanfilippo Syndrome  Legal and Ethical Concerns Some legal and ethical concerns that may arise with Sanflippo Syndrome are informed consent and clinical trials, genetic testing, privacy, access to care and treatment, quality of life and research and development. Because of the rarity of Sanfilippo Syndrome, families may feel pressured to attend and enroll their child with trials, however there is still no cure, so it leaves a challenging delliemma to balance the hope for a cure and knowing there still isn't one. This can also be costly, and some families may not have insurance avaliable to cover the costs of these things. Extending medical care can also be a hard choice for families to decide, again leading to costly and complicated approval for these tests.   ( Ethical and legal issues n.d.) Is Meeting the Letter of the Law Sufficient? While legal compliance ensures basic rights and protections, ethical care for individuals with Sanfilippo syndrome involves a more compre
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BLOG 5: Challenges of Sanfilippo

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Sanfilippo Syndrome: Understanding Challenges and Accommodations Sanfilippo Syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder characterized by the body's inability to break down certain sugars. This results in the buildup of harmful substances in the body, leading to severe neurological deterioration. In this blog post, we will comprehensively discuss the challenges faced by individuals with Sanfilippo Syndrome, explore solutions and accommodations, address issues encountered by family members, examine challenges in societal areas, and underscore the importance of societal awareness and implementation of accommodations for those with this disability.  ( Mucopolysaccharidosis type III: Medlineplus genetics 2024)  Challenges and Solutions Individuals with Sanfilippo Syndrome face numerous challenges, primarily related to neurological decline, cognitive impairment, behavioral problems, and physical limitations. Symptoms typically manifest in
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BLOG 4: Psychological Concepts, Theories, and Models

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BLOG 4: Psychological Concepts, Theories, and Models  Pyschological Concepts and Theories:  Though those with Sanfilippo Syndrome are born with the condition, most won't have symptoms until their preschool years of 2-6, leading to a slow regression in cognitive and physical abilities, such as lss of motor sills, speech and developmental delays, and behavioral issues that can be wrongly diagnosed as autisim early on. (Carroll, 2019) There are typically phases in which the progession from the disease begins on children. The first being developmental delays being noticed, espically in speech and language. The second is a detterioration in behavioral altercations, and can be shown in ways that are impulsive, hyperactive, anxious and cause sleep disorders. The third phase is a serious degression in the individual, leaving them nearly at a loss to walk or swallow, commonly developing seizure disorders and various infections through the body. The loss of these abilities often leads to dea
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BLOG 3 - A Personal Approach

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 Blog 3: Parents of Sanfilippo  Haidyn Fowler  “She’s taught me so much, but definitely that it’s the little things in life that we take for granted the most,”   Says mom Carrie Fowler when talking about her daughter, Haidyn- who was diagnosed with Sanfilippo Syndrome in 2020.  Haidyn's diagnosis started before she was a year old, and doctors originally told Carrie that she was developmentally delayed- then re-evaluated and given an autism diagnosis; doctor after doctor, Carrie was determined to find out the correct answers for her daughter- while in the middle of a global pandemic.  Seemingly healthy at birth, Haidyn's mom was told multiple diagnoses for almost 5 years before it was discovered it was Sanflilippo Syndrome by her thick, coarse hair.  The family continues to hold fundraisers and host other events to spread the message for Sanfillippo Syndrome, to spread awareness and hopes one day for a cure. (Ross, 2020) Once a doctor commented on Haidyn's thick corse hair,
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BLOG 2- Sanfilippo Syndrome

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  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
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BLOG ONE - Sanfilippo Syndrome

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  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 early and progresses
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