BLOG 6: Disability Laws and Information

 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 comprehensive approach. This includes emotional, psychological, and social support, which may not be mandated by law but are crucial for the well-being of patients and families. Example: Legal frameworks may require informed consent for participation in clinical trials, but ethical care demands that this consent be genuinely informed, considering the patient’s and family's emotional state, understanding, and long-term implications. (Muschol et al., 2022) This can also be said for the quality of life, as those with sanfilippo syndrome are typical placed under individualized care, allowing parents to feel supported in their decisions. All care requires collaboration between healthcare providers, educators, policymakers, and the community to create an environment where individuals with Sanfilippo syndrome can achieve the highest possible quality of life.


Discuss and Illustrate the Spirit of the Law
Embracing the spirit of the law in the context of Sanfilippo syndrome means going beyond basic legal compliance to actively support and enhance the lives of those affected by the disease. It involves fostering an environment of empathy, inclusivity, and comprehensive care, ensuring that individuals and their families receive the support they need to navigate the complexities of the condition with dignity and hope. This can look like: 
  • A sustainable support system for families. 
  • Future planning for families to assist them to transition into older stages or financial issues. 
  • Fostering an inclusive and supportive school culture that the child/student can feel comfortable in, with staff who understand and support their peers. 
  • Focusing on the quality of life and emotional well-being of the entire family. 

    There is a mother of a child with Sanfilippo, Sawyer. She shares their daily lives on her Facebook Page: Sawyer's Daily 

    Potential Issues Impact on the Individual and     Impact on Family/Friends, Environment, and Society

  • The individual diagnosed with Sanfilippo Syndrome will begin to have physical and cognitive deterioration, making it difficult to learn, having a loss of most motor skills, increased emotional and behavioral issues, and a shortened lifespan. 
  • Family may feel grief, anxiety and worry due to the nature and progression of the diagnoses. They may struggle financially due to medical care and spend a lot of their time caring for the loved one in their life with the diagnosis. This can lead to feelings of isolation and depression.
  • Homes will need modification for handicap accessability, along with finding a correct therapy center or educational center to take the child to that is an inclusive center and specializes in the care of their specific need. 
  • Societial impacts can be things such as raising awareness, investments for medical treatment, or increased demand for certain medical care or therapies. 

Citations

University of Washington. (n.d.). Ethical and legal issues. https://www.washington.edu/doit/book/export/html/929 

Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., O’Neill, C., & MPS III Guideline Development Group. (2022, October 27). Sanfilippo syndrome: Consensus guidelines for clinical care. Orphanet journal of rare diseases. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9612603/?scrlybrkr=dc47b7d1

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