Transforming paediatric respiratory care: Great Ormond Street Hospital’s Phrenic Nerve Pacing services

Great Ormond Street Hospital (GOSH) is at the forefront of paediatric healthcare, offering innovative solutions to complex medical challenges. Among its pioneering services is Phrenic Nerve Pacing (PNP), a medical procedure where a breathing pacemaker is surgically implanted onto the phrenic nerves to help manage respiratory conditions in children. Salem’s journey with ROHHAD syndrome exemplifies the impact of PNP and highlights the comprehensive care and expertise available at GOSH.

Salem, a young boy from Qatar, was diagnosed with ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation) syndrome at the age of four. His condition is characterised by rapid weight gain and hypoventilation or under-breathing, and he needed treatment with a mechanical ventilator helping him to breathe deeply enough, especially during sleep. This posed significant challenges to his health and well-being. Concerned about the long-term implications of continuous mechanical ventilation, Salem’s family sought alternative treatment options abroad.

After extensive research and consultation, Salem’s family turned to Great Ormond Street Hospital for a second opinion. Led by Dr Paul Aurora and a multidisciplinary team of specialists, including Dr Martin Samuels and Dr Elaine Chan, Salem underwent a comprehensive evaluation. Recognising the potential of PNP to improve Salem’s quality of life, the medical team proposed this innovative approach as an alternative to tracheostomy.

PNP provided with keyhole surgery
PNP involves implanting a breathing pacemaker on the phrenic nerves, which control the diaphragm’s movement. Unlike traditional interventions, such as tracheostomy, PNP can be provided with keyhole surgery, leading to fewer post-operative complications. Dr Martin Samuels highlighted the broader implications of PNP: “Conventional mechanical ventilation typically involves surgery to place a tracheostomy tube in the front of the neck or wearing a face mask and connection of the tube or mask to tubing to bulky equipment which limits daytime mobility. Phrenic Nerve Pacing presents a discreet alternative by stimulating the diaphragm, enabling natural breathing without the requirement for cumbersome apparatus. Utilising a compact and light-weight external pacing box allows Salem to significantly enhance his mobility during the day, providing a more comfortable and inconspicuous solution for his respiratory challenges.”

Salem’s surgery, performed by Mr Stefano Giuliani using an innovative minimally invasive technique (thoracoscopy), marked a significant milestone in his treatment journey. The procedure favours a quick recovery with less post-operative pain compared to traditional open surgery. Following surgery, Salem remained under close monitoring at GOSH, where the PNP system was gradually introduced and optimised to meet his specific needs. The GOSH team included experts in sleep medicine, long-term ventilation, cardiology, endocrinology, gastroenterology, and oncology. Each specialist brought a wealth of experience to Salem’s care, ensuring all aspects of his complex condition were managed effectively.

The power of multi-specialist collaboration
Dr Paul Aurora remarked: “ROHHAD is a very unusual condition, and it is essential that children with this diagnosis are reviewed by multiple specialists who have experience in dealing with it. We are extremely fortunate at GOSH to have all the expertise on one site. In addition, we were able to reassure our colleagues in Qatar that we would provide long-term support, not just for the PNP system but also for any other medical complications that Salem could develop in the future.”

This multidisciplinary approach not only addressed Salem’s immediate respiratory needs but also provided holistic care that considered his overall health and development.

The success of Salem’s treatment transformed his life, allowing him to breathe independently during the day and engage in everyday activities with greater ease and comfort. Beyond Salem’s individual journey, his case highlights the broader significance of PNP as an innovative and effective treatment option for children facing similar challenges. At Great Ormond Street Hospital, our Phrenic Nerve Pacing services represent a pioneering approach to paediatric respiratory care, offering tailored solutions and comprehensive support to children and their families.

Key advantages of PNP include its minimally invasive nature, enhanced mobility, improved quality of life, and ongoing support from our multidisciplinary team of specialists. Through continued research, collaboration, and compassionate care, GOSH remains committed to advancing paediatric respiratory medicine and delivering life-changing solutions for children with complex conditions. For more information about our Phrenic Nerve Pacing services and how we can support your patients, please get in touch. Together, we can make a difference in the lives of children and families facing respiratory challenges.