Joubert Syndrome and Related Disorders

Implications for Nurse Practitioners

Laurie Anne Ferguson, FNP-C; Maritza Salgado, FNP-BC

Disclosures

Journal for Nurse Practitioners. 2012;8(4):316-322. 

In This Article

Ethical, Legal, and Social Implications

The challenges of having a special needs child are great, starting with the associated stigma. A mother of JRSD children recently related a story of flying to New York to attend an international JSRD conference in which other passengers wanted the children moved to the rear of the plane, as if the syndrome was catching.

Genetic science has advanced to the stage that its power to improve or diminish the quality of life is significant. Issues surrounding testing will continually evolve as science and technology advances improve the ability to detect and treat genetic illnesses. An appropriate fear of the misuse of genetic information serves to provide caution as society boldly embraces new technologies. As science continues to increase our ability to identify and treat genetic illnesses, we must remain ever vigilant in protecting individual rights and freedoms. The controversy surrounding genetic risk disclosure will be debated well into the futures as society attempts to establish ethical guidelines for the implementation of genetic and technological advances.

Other issues faced by parents of chronically ill children include insurance coverage and respite assistance. The physical, emotional, and psychological burdens of caring for individuals with special needs often preclude parental employment. Government-sponsored insurance programs, such as Medicaid, are often the only choice for chronically ill and special needs children and adults. Paradoxically, many specialty health care providers do not participate in Medicaid programs, further limiting access. PCPs can be very effective in recognizing psychosocial issues affecting a family, making appropriate referrals, and providing information on available resources.

The 24-hour-a-day burden of physical and emotional care is very stressful for parents and caregivers. The difficulties of accessing individuals trained to assist with special needs children for respite is indeed challenging. Sadly, even when respite services are available, the lack of staff continuity further adds to the problem. Many parents and caregivers of special needs individuals become socially isolated.[19]

Special needs individuals require planning for future care as they may outlive their parents and caregivers. While no individual with JS has been known to have a child, parents of JSRD children also face birth control or sterilization decisions.

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