About The Position

Cincinnati Children’s is seeking an experienced Registered Nurse II or III to join its Human Genetics team, supporting the Lysosomal Storage Disease Program. The nurse will care for children, adults, and families affected by complex, rare genetic and metabolic conditions, including Gaucher disease, Fabry disease, Pompe disease, and MPS disorders. Working with genetic counselors, advanced practice registered nurses, physicians, and other healthcare professionals, the nurse coordinates comprehensive patient care, supports disease-specific treatment plans, and serves as a resource for patients and families. The role combines outpatient clinical care with office-based care coordination. The nurse coordinates longitudinal care across specialties, facilitates referrals and follow-up, monitors disease progression and treatment response, and helps providers develop individualized treatment plans. The position also coordinates enzyme replacement therapies, substrate reduction therapies, and other treatments with infusion agencies, specialty pharmacies, infusion centers, insurers, and pharmaceutical support programs. The nurse monitors adherence, treatment schedules, laboratory monitoring, and infusion-related concerns, and helps address access barriers and complications. The nurse advocates for patients and families navigating complex healthcare needs, connects them with community and other resources, supports care transitions between pediatric and adult systems, and provides education and ongoing guidance. The role also entails compliance with regulatory, accreditation, safety, and departmental requirements; collaboration and shared decision-making with the interdisciplinary team; culturally inclusive, age-specific care; clinical documentation; patient and family education; and continued professional development.

Requirements

  • Bachelor’s degree in nursing (BSN).
  • Five years of nursing experience.
  • Current Ohio RN license.

Nice To Haves

  • Pediatric nursing experience.
  • Experience in genetics, metabolic disorders, specialty clinics, or complex care coordination.
  • Knowledge of rare genetic conditions, enzyme replacement therapies, or specialty medication management.
  • Experience coordinating care across multiple specialties and collaborating with multidisciplinary teams.
  • Strong communication, organizational, critical-thinking, and patient advocacy skills.

Responsibilities

  • Serve as a primary clinical point of contact for patients and families affected by lysosomal storage disorders and other rare metabolic conditions.
  • Provide nursing support during outpatient clinic visits and coordinate ongoing care with genetic counselors, APRNs, physicians, and multidisciplinary teams.
  • Coordinate longitudinal care plans across genetics, neurology, cardiology, pulmonology, nephrology, orthopedics, rehabilitation, and primary care.
  • Facilitate referrals, consultations, diagnostic testing, and follow-up appointments.
  • Monitor disease progression, treatment response, and emerging clinical concerns, and communicate changes to the medical team.
  • Assist providers in developing individualized treatment plans based on disease-specific needs and patient goals.
  • Coordinate initiation and ongoing management of enzyme replacement therapies, substrate reduction therapies, and other disease-specific treatments.
  • Collaborate with home infusion agencies, specialty pharmacies, infusion centers, insurance providers, and pharmaceutical support programs to facilitate timely treatment.
  • Monitor treatment adherence and identify barriers to medication access or administration.
  • Coordinate follow-up for infusion-related concerns, adverse events, access-port troubleshooting, and treatment complications with the medical team.
  • Track treatment schedules and ensure laboratory monitoring is completed according to established protocols.
  • Advocate for patients and families and help them access community, educational, financial, and psychosocial resources.
  • Advocate for needs related to school accommodations, therapy services, durable medical equipment, and community support.
  • Facilitate transitions of care between pediatric and adult healthcare systems.
  • Support patients and families during hospitalizations, emergency department visits, and significant changes in clinical status.
  • Build relationships with patients and families and provide education, guidance, and ongoing support.
  • Maintain understanding of regulatory requirements and accreditation standards; support departmental and hospital compliance efforts.
  • Monitor safety and departmental policies and procedures, fulfill certification and Safety College requirements, and communicate safety or compliance concerns to leadership.
  • Integrate the Interprofessional Practice Model into practice and participate in interdisciplinary collaboration and shared decision-making.
  • Use clinical standards, guidelines, protocols, and available resources to deliver safe care; recognize changing situations and seek assistance when needed.
  • Document care plans, care delivered, and patient and family outcomes.
  • Provide age-specific and culturally inclusive care that considers developmental functioning and the potential impact of culture on the patient and family experience.
  • Develop care goals and actions in partnership with patients and families, provide structured education, and use teach-back to evaluate learning.
  • Participate in self-appraisal, peer review, annual goal setting, professional development, and learning experiences for peers and students.
  • Advocate for patient and family needs, recognize ethical concerns, and represent patients when they cannot represent themselves.
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