Niemann-Pick disease type C is a rare progressive genetic disorder that leads to the abnormal accumulation of lipids within various tissues of the body, including brain tissue and liver. There is a rapid progression of the disease, resulting in severe disability in only a few years after the first symptoms, and survival is not much longer. Spasticity, dystonia, and chronic pain are common findings that severely impact quality of life in these patients. Analgesic management with traditional pain medications is not always effective, and the risk for secondary effects in medically complex patients is high. Liver function is also a limiting factor in these patients. This is a case report of a boy with advanced Niemann-Pick disease type C with developmental regression, cataplexia, and seizures. His severe spasticity made positioning and care difficult, and intense pain required multiple hospitalizations. He had unsuccessfully trialed multiple drugs. An intrathecal baclofen pump was placed without surgical complications and resulted in positive clinical effects. Baclofen pumps have classically been used for spasticity management in adults and children with nonprogressive diseases such as cerebral palsy or spinal cord injury with relatively long life expectancies. In adults, they have been used in patients with multiple sclerosis; however, use in pediatric neurodegenerative diseases has scarcely been reported. The use of intrathecal baclofen in palliative settings might provide an additional resource to provide comfort and quality of life for children with neurodegenerative diseases not only at end-of-life stages but also earlier on.

Children with cerebral palsy experience spasticity that can be debilitating and cause significant pain and contractures. Intrathecal baclofen (ITB) therapy can help relieve this spasticity and improve the quality of life for these patients, but it comes with risk. Withdrawal from the medication in case of abrupt discontinuation of delivery can be life-threatening. Regular maintenance of the system is mandatory. Having a program in place to manage the device and support patients helps to ensure their safety. Toward this end, we developed a program with a nurse practitioner (NP) leader to secure the safety and quality of care for patients using ITB therapy. As the program grew, the NP role as an expert in the care and management of ITB pumps became essential to the safety and care of these patients. In addition to the basic outpatient and inpatient management of the baclofen pump, the NP developed a detailed educational program for the patients and leads the quality and safety initiative for the program. The NP is also in a unique position to have intimate knowledge of the patient's condition and build a strong relationship with the patient/family. The NP is able to use this knowledge and relationship as concerns arise that could be related to the ITB therapy. This has greatly improved the safety and quality of care for patients using ITB therapy at our institution.

There was no significant difference in length of stay, pain scores, or pain/spasticity medication use between groups after spinal fusion, but there was a significantly lower incidence of complications in the ITB therapy group.

This commentary is on the original article by Lam et al. on pages 1038–1044 of this issue.