Table 4 Challenges and resolutions associated with critical clinical situations

• 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

• 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

• 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 extubation^a

• 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 management^b

• Procedures can be carried out in a paediatric hospital that has appropriately sized equipment available and expertise in MPS

• Organisation of ERT infusions^b

• Carried out by adult care clinicians in a dialysis ward