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Turning the talk into action: We must have robust, fit for purpose and funded solutions now

The burden of coordinating health and social care for those living with rare diseases is enormous. Commissioned specialised services are part of the solution, but with over 7000 rare diseases, not every condition has this level of support for families. 
Nurse practitioner Paula Sullivan talks to us about the importance of care coordination, the biggest challenges for rare disease individuals and families coordinating their care, and what the future for coordinated care may look like for the rare disease community.
Paula is a paediatric nurse and has been working with Dr Mohammad for the last two years at the Rare Disease Centre at St Thomas’, which provides a national service for patients with Cockayne syndrome and trichothiodystrophy.
Paula Sullivan

Paula is a paediatric nurse and has been working with Dr Mohammad for the last two years at the Rare Disease Centre at St Thomas’, which provides a national service for patients with Cockayne syndrome and trichothiodystrophy.

Together, they have a multidisciplinary clinic, which runs once a month for paediatrics and once a month for adults, where individuals see around eight different speciality doctors at once.

Once a year Paula visits the rare disease individuals at home, where she does a full nursing assessment and care plan. Outside of clinics and home visits, Paula liaises with professionals to coordinate care, making sure everyone has the necessary therapies and professionals involved in their care. 

What does coordinated care look like? 

Paula believes that good communication between varying professionals is key. She highlights the difference in coordinated care in paediatrics compared to when individuals reach adolescence. For most children with a rare disease, their care includes a community paediatrician who oversees their care and reviews them regularly. However, when they reach nineteen, they no longer have this and instead rely on their GP, meaning their care becomes more fragmented. Paula and her colleague Phillipa are now working to create a transition plan for these individuals and their families. This includes helping to support the local professionals to understand the longevity of the care these individuals require and the importance of keeping them on their books and not discharging them.

Why is it important for individuals/families to have a care coordinator advisor?

It would be incredible if everyone could have a care coordinator,” Paula tells us. 

“In paediatrics, if you’re lucky, you have a key worker that’s allocated to be that person. Unfortunately, most of the time it falls to the parents to manage all the appointments, which is a huge task.

Paula Sullivan

Paula shares her thoughts on the importance of amalgamating appointments, which would be highly difficult to achieve without a care coordinator. The benefits of having all appointments with each specialist on one day would be huge:

– lower travels costs to hospital visits with fewer appointments
– easier to book time off work for one day in comparison to several different days 
– less time out of school and interruption to education for children 
– better communication and collaboration between professionals  

Paula is a paediatric nurse and has been working with Dr Mohammad for the last two years at the Rare Disease Centre at St Thomas’, which provides a national service for patients with Cockayne syndrome and trichothiodystrophy.

What are some of the biggest unmet needs and challenges in coordinating health and social care?

One of the biggest challenges that I don’t think is spoken about enough is that with rare diseases it is very difficult to predict life expectancy and disease progression. Therefore, respite is not usually offered, despite it being needed. 

Paula Sullivan

Paula also highlights the challenges with disparity between what is available in the different areas of the country. For example, in London there are more rare diseases services available, whereas in places such as Wales there seems to be a lot less. “We are not seeing equitable care across the board; it is a postcode lottery on how much care is available where you are,” Paula explains. 

Can we align the needs and preferences of families with those of healthcare professionals?

“I think there are certainly key differences from these different perspectives, but also differences from individuals in the same group; for example, I have seen some families want to be heavily involved in the care coordination we do, and other families who would prefer to not be as involved.” Paula believes that everyone should be able to have the option of a care coordinator in the future; however, professionals should keep in mind that not every rare disease family will want one. 

From Paula’s perspective, it appears that the families she sees, particularly adults with rare diseases, often want more coordination and information from their GP, whereas professionals would prefer these individuals to see appropriate specialists who have the funding to keep individuals on their books.

Implementing solutions: the care plan passport 

In 2019, Paula formulated a care plan passport as a way of helping professionals care for rare disease individuals in the best way possible. The passport includes a care plan for if the individual becomes acutely unwell, which highlights the differences in how they need to be cared for in comparison to an individual who does not have a rare condition (for example, what medicines they cannot have). “Since St Thomas’ copyrighted the passport, it has been used worldwide and is disseminated by support groups to families overseas,” Paula explains. “Although passports like this are used elsewhere, I think it is an underutilised tool and a good solution for one of the main challenges patients face: a lack of understanding of their condition outside of their specialist.” 

Paula is a paediatric nurse and has been working with Dr Mohammad for the last two years at the Rare Disease Centre at St Thomas’, which provides a national service for patients with Cockayne syndrome and trichothiodystrophy.
Charity perspective – Patricia Osborne, Chief Executive – The Brittle Bone Society 

”​Brittle Bone Society (BBS) supports people with OI, and has good relations with other rare bone groups such as Softbones UK, XLH UK and Fibrous Dysplasia Support UK. We all share the same clinicians and experience similar care gaps. In calling for better care services for those with rare bones’ we worked together to highlight those aspects of care we felt were missing.

People living with rare bone conditions experience multiple challenges including diagnosis, and there is a lack of understanding among non-specialist clinicians, with a sub-optimal approach to management due to a healthcare infrastructure that doesn’t always meet the needs of those involved.  

​OI children are well supported from birth until the age of 18, they have immediate access almost 24/7 to their OT / PT / CNS / Doctor. However, the quality of support available to adults is more variable. BBS works closely with the Highly Specialised Services (HSS) hospitals in Sheffield, Bristol, Birmingham and London – connecting families and signposting them to gain the right information and care.

In a recent survey the BBS carried out in relation to Independent Living in Adults with OI it highlighted that the quality of life for the adult population is unnecessarily affected because of the barriers they face. Some are due to funding and the challenges faced in ‘fighting’ for a piece of vital equipment or could be appealing a PIP decision etc or knowing what adaptations they are eligible for, but also down to lack of access to a specialist team (multidisciplinary) who can support each individual and be their advocate when navigating health and social care, benefit systems etc.”

This links to a third party, non-Alexion website:

For more information about The Brittle Bone Society please click the logo or buttons below:

The Brittle Bone Society is the national charity that supports individuals and families affected by Osteogenesis Imperfecta (OI). We’re here to help and support you and your loved ones.  The BBS also supports the use of an OI passport which our umbrella org the OIFE designed some years ago – and we have been distributing to the OI community for a long time. This proves to be useful to the OI community.

CONCORD study:

In 2019, Genetic Alliance UK collaborated with University College London (UCL), University of Cambridge and patient representatives on the CONCORD (CoOrdiNated Care Of Rare Diseases) project to explore these questions:

1. What does coordinated care mean? 
2. What does coordinated care look like? 
3. Is care for rare conditions coordinated?

The findings of the study are discussed in a webinar which can be accessed for free in the link below. The papers published from the study to date are also available to download for free. These link to a third party, non-Alexion website.

For more information about the NHS:

Date of preparation: August 2021
​Document No: UK/NP/0015

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