Table 4.
Challenges and resolutions associated with critical clinical situations
| Challenges | Resolutions |
|---|---|
| Pregnancy | |
| • Breathlessness and oedema progressed as ERT stopped at 3.5 weeks of the pregnancy |
• Regular monthly obstetrics appointments • Regular cardiology, ophthalmology and anaesthetic appointments • Monthly fetal ultrasound scans |
| • Spinal support required during pregnancy | • Body corset worn by patient |
| • Neonatal child had squints, jaundice and respiratory difficulties |
• Neonatal intensive care for 8 weeks • Supportive ventilation |
| • Help required caring for the baby for the first year because of joint restrictions in the hands |
• Baby fed with expressed milk and formula • Support provided by patient’s family • Increased frequency of health visitor appointments • Appointments with occupational therapist |
| • Chest infections more frequent and forced vital capacity reduced, as ERT cessation continued during breastfeeding |
• Antibiotics prescribed once bacterial infection confirmed • Contraindications confirmed with pharmacist |
| Maintaining ERT administration after thrombus development in a venous access device | |
| • Worsening breathlessness due to obstructive sleep apnoea |
• Continuous positive airway pressure at night to resolve obstructive sleep apnoea prior to surgery to remove port-a-cath • Assessed by neurosurgeon, ENT consultant and anaesthetist prior to surgery |
|
• After port-a-cath removal, patient received ERT by peripheral access, leading to reduced quality of life • Port-a-caths are usually reserved for paediatric patients |
• Hickman line inserted |
| • Hickman line insertion resulted in patient distress | • Consider general anaesthesia for this procedure in patients with MPS |
|
• Risk of infection with Hickman line • An adult Hickman line was required for an appropriate diameter, but as the patient is short, the line is relatively long, increasing infection risk |
• Sterile dressings were changed frequently, and the line flushed prior to ERT • Patient and family educated on managing Hickman line and infusions |
| • Patient travelling shortly after procedure | • Sutures left in until patient was able to return |
| Complex continuous symptom management | |
| • Wide range of symptoms experienced, and surgeries and treatments required |
• Adult care specialist has extensive experience of MPS and makes personal contact with the MDT to explain the requirements for each surgical procedure • Continued monitoring of symptoms that are life-threatening or may affect quality of life |
|
• Airway management during extubationa • Caused by swelling • Progressive dyspnoea developed after tracheostomy tube removal • Tracheal stenosis developed |
• Emergency tracheostomy • Oxygen support required on some occasions • Assess need for all future surgeries |
| • Surgical managementb | • Procedures can be carried out in a paediatric hospital that has appropriately sized equipment available and expertise in MPS |
| • Organisation of ERT infusionsb | • Carried out by adult care clinicians in a dialysis ward |
aCase 7. bCase 8