1. CCHS: Challenges & Innovation UK Perspective
Martin Samuels
Respiratory Paediatrician
Royal Stoke University Hospital &
Great Ormond Street Hospital, London
Thank you to the course organisers for your kind invitation to come and talk at this meeting.
One of the greatest challenges set is the need to talk about the challenges and innovations within a 5-10 minute window.

2. Challenges in CCHS in UK
I have cared for children & families with CCHS since the mid 80s and currently work in the field of sleep & ventilation in both Great Ormond Street Children’s Hospital in London and 160 miles north in the North Midlands. We care for a sizeable cohort of patients from many other paediatric respiratory centres in the south-east and north of England, but there are still many other centres dealing with small numbers of patients. Care is thus variable because of the different experiences and practices of clinicians.
We have also undertaken reviews of patients from other countries with either small numbers or little experience with CCHS, including Ireland, Greece and Russia. This has included visits to teach and consult within those countries.
It has been helpful to be part of the EU-CHS network, but I have not idea where this leaves us after Brexit!

3. Challenges in CCHS Very rare disease Multi-system disorder
Variable practice
Role for centralisation
Needs funding / priority
CCHS is a good example of the difficulties in managing a rare, multi-system condition. Many of the issues raised by families at our annual Family Support Days involve the fact that practices of clinicians and clinical commissioning authorities vary so much around the UK. There is thus a pressing need for conformity of practice based on evidence, experience and resources. Thus we have been working with NHS England to achieve centralisation of CCHS care, but this is a condition that is competing with funding priorities of other rare conditions.

4. Challenges – Modality of Ventilation
Tracheostomy
Negative pressure ventilation
Mask ventilation
Diaphragm pacing
Another challenge has been the long-standing controversy about the correct modality of ventilatory support.
In 1980s, we utilised negative pressure ventilation and then subsequently mask ventilation even in early years care, but we are still trying to establish a service for inclusion of Diaphragm Pacing in the UK.
The full range of modalities should be available, but NHSE does not currently fund diaphragm pacing, which I know many CCHS individuals in the UK would wish to consider.

5. Challenges in CCHS Care packages Transition of care to adults
Independent living
Self-care alarms
Daytime hypoventilation
Families are also challenged by the variability between care packages; many commissioning authorities in the UK limit nocturnal care packages.
The right amount of care that CCHS individuals should expect is a challenge, and this of course can change when patients pass onto adult practice, where there is even less experience of the condition. This is another argument for centralisation of care. How CCHS individuals manage independent living is also a challenge that we are still learning about.
And as adult living takes over, it seems to be even more important to understand the changes in degree of hypoventilation and meets the patients needs in the right way.

6. Monitoring & Adjusting Ventilation
We have been criticised by other professionals for over-monitoring patients in the home setting, as there are no other conditions where we have recommended the availability of home CO2 monitoring. We generally aim to provide these.
Regular hospital reviews, done either at home or in hospital, should provide more than the simple SpO2 / CO2 monitoring that can be used in the home. We undertake in-hospital checks, and have developed a set of titration guidelines, which allow the physiologists in the sleep unit to adjust ventilator parameters to reduce minimise events. At the end of the night, we can then decide whether such changes are used long term. The decision rests not only on gas exchange / events, however, but also clinical progress, whether the study night was typical and the overall aim of ventilation.
Home escalation plans for parents and carers are now a normal part of care in our service.

7. Mask Leak Is airway obstruction causing desaturation and leakor
Is a mask leak producing desaturation and inadequate ventilation?
This shows a girl with CCHS and neuroblastoma, receiving mask ventilation, who is exquisitely sensitive to mask leak / pressure loss. For example, recording airway pressures, airflow and leak, we can examine the exact sequence of changes to see if airway obstruction produces leak, or whether leak occurs first and is then followed by inadequate ventilation. This helps provide a more logical sequence to dealing with ventilation problems.

8. Hypoxic Challenge Test: Fit to Fly?
Another issue that we have recently been assessing is how CCHS individuals should be managed in flight. A standard HCT involves hypoxia within a body box to monitor the sats to see what supplemental oxygen flow is needed to correct sats. But of course, this was designed for use in chronic lung conditions and doesn’t’ attend to the changes in carbon dioxide.

9. Modified Hypoxic Challenges (Fitness to Fly)
So we have developed a modified hypoxic challenge test over and above that published by the British Thoracic Society that monitors sats and CO2 and uses either oxygen or ventilation to manage blood gas changes.

10. Modified Hypoxic Challenge Test
This shows a modified hypoxic challenge test, showing sats and CO2 plotted through firstly air, then 15% O2 – sats drop <80% and CO2 falls, then on the ventilator – Sats rise and CO2 falls, an appropriate response to therapy, then (green) in O2, where sats are extremely good, but CO2 rises, and then finally with both oxygen and ventilation which produced probably the best change in gas exchange. We would therefore recommend ventilation + O2 for long-haul flights.
Air
15%
+Vent
15%
+ 1L/m O2
15%
+ Vent & O2
Air

11. Key Messages Need for consistency of care Role for centralisation
Learning the right ways to allow practical, safe & independent care
In summary, many of the problems we see are down to variable practice and there is a need for consistency of care, which is probably best achieved by the centralisation of care, whilst empowering patients to manage their own conditions as safely as is practicable.