The most important aspect of the care of Lesch-Nyhan patients from both the practitioner and health system perspectives is collaboration with the parents and/or patient. A close second is the ability of the healthcare provider to demonstrate adaptability of the system and individuals involved when confronted with new challenges.
Lesch-Nyhan is a rare X-linked, recessive genetic disorder associated with cognitive impairment, hyperuricemia, renal involvement and the hallmark symptom, severe self-injurious behaviors. There are endless behavioral issues that have to be addressed when caring for a Lesch-Nyhan patient. Among them:
- Safety issues relating to transportation.
- Equipment issues relating to wheelchair seating systems.
- Wound management.
- Availability of transition care.
For these issues and many more, it is important for a healthcare institution to recognize the necessity of crossing departmental and institutional lines. It is also important that healthcare providers be able to collaborate with parents and other relatives of LND patients.
Third in a series of four articles on Lesch-Nyhan Disease. For more information, feel free to call Gary E. Eddey, MD, at 908 234-0011, ext. 737.