Supporting young people with a rare disease in the transition to adult services

About 75% of rare diseases present in childhood and they are usually lifelong conditions. Young people with a long-term condition will be expected to move into adult services as they get older. This process must be supported so that young people are not left isolated, with unco-ordinated care, which can negatively impact their physical and mental health.

Cambridge Rare Disease Network defines transition as the supported process of transfer from paediatric to adult care. Most patients with a rare disease will transfer from paediatric to adult services, but not everyone will experience a supported, well-managed transition.

Ideally, transition is a gradual process where a young person (from the age of 11) is supported into adulthood and steadily acclimatised to adult services. A slow pace of progression allows healthcare teams to adequately prepare to receive and support the patient, while the patient, and in many cases their family, builds up their confidence in managing their own care.

Some rare conditions are managed throughout childhood and adulthood by highly specialised services, such as Birmingham’s clinic for people with Alström syndrome. But the vast majority of children living with a rare condition are managed within paediatric services until the age of sixteen before being transferred to the corresponding adult service (where one exists). For example, a child with a rare neurological disorder may be managed by a paediatric neurologist until the age of sixteen and then transferred to an adult neurologist.

Transition can be a difficult time for patients and their families as they move away from the familiarity of paediatric services and adjust to a new group of professionals.

Communication and co-ordination

Clear communication is key to a positive experience for patients. A lack of clear communication about who is taking over care and when can generate unnecessary distress at a time of significant change. Any uncertainty can cause fear and anxiety, leaving patients and families unsure of who to approach in relation to different issues, which is particularly difficult given that many rare conditions affect multiple body systems.

Poor communication between paediatric and adult healthcare teams can also lead to a fragmented experience of care, increasing the burden placed on families and reducing trust in healthcare systems. Discontinuity of care can also lead to gaps in support provision for the patient and confusion among professionals. All these factors can have very real and sometimes serious implications for the health and wellbeing of affected young people.

Abrupt timing

Many patients and families report that care is transferred abruptly and without adequate preparation or structured introduction. Often the decision to transfer care is based exclusively on age, without sufficient consideration of individual readiness. Adult clinical environments can feel aesthetically unwelcoming and may be less flexible than the paediatric services that families have become familiar with. A slower pace of transition can be hugely helpful.

Change of roles for parents and guardians

Parents, guardians and other caregivers generally have a wealth of experience related to the care of a young person with a rare condition. While it is critical to respect a young person’s autonomy, especially as they get older, we should also take into consideration familial relationships and the experience of family members who may find the change to their role challenging. The transfer of responsibility can also be a distressing change for patients and should be handled sensitively.

Katie Callaghan is a member of the Rare Youth Revolution team and founder of Cards for Bravery. There are lots of lessons that can be learned from her experience of transferring from child to adult services:

“The healthcare team within the A&E department failed to communicate effectively with me, or each other. Nobody was actually focusing on or caring for my needs, which ultimately resulted in me becoming seriously ill and being transferred to the paediatric intensive care unit (PICU). During my time in PICU, I stayed within paediatric wards but was refused to be seen by any paediatric clinicians, which was confusing and frightening. To this day, I am still unsure which individual or team to go to for what issue.”

Charlotte, a member of RCPCH &Us, describes a similarly difficult experience: “Often, transition happens suddenly with little warning. The paediatrician who knew you so well is replaced by a GP who struggles in the short appointments to grasp the whole complex picture.”

Such experiences can have a significant, negative impact on a person’s mental health, which in some cases results in them withdrawing from healthcare professionals and appointments completely.

With the right support, the experience of transitioning to adult care can be positive, as Katie explains: “In contrast, I had a very positive experience of age-appropriate care at University College London Hospital, where there is a dedicated adolescent ward for patients up to 25 years old.”

Young people and carers experience a smooth transition of care when they are equipped with the knowledge and support required to allow them to adjust to adult services.

Start conversations early

Speaking about care transition in age-appropriate terms ahead of time can help prepare patients, families and services. Regular multidisciplinary meetings before and during the transition can help facilitate this process and allows time for relationships and trust to develop. Designated transition co-ordinators are in position in some places and have an important role in the process.

Keep communicating

Communication with families and between healthcare teams is the backbone of a successful transition of care. Make sure your patient and their family have a trusted contact and know who to approach about different aspects of their care through a written care transition plan. Provide patients and families the space they need to ask questions and understand the path ahead.

Tailor the speed of transition

Children and young people grow, develop and adjust at different paces. Allowing for some flexibility in the transition schedule can offer everyone some breathing space if it is needed. Also consider how you can continue to incorporate the roles and views of parents and guardians in a way that is agreeable to the young adult.

View the process holistically

Young people’s lives are multifaceted, including health, education, social life and emotional wellbeing. Remember to consider more than simply the medical components of their care, especially their mental health. Considering these factors and offering understanding and support can help build lasting relationships with patients when you are taking over care from another clinician or team.

Create a welcoming space

How adolescent-friendly is your adult service? Creating a space that is age-appropriate can help a person who is transitioning to adult care feel more at ease. This space can also be a good place to signpost to local initiatives and peer-support opportunities that can help support emotional wellbeing.

Make use of available guidelines and resources

There are numerous excellent resources that can help you support your patients through transitions of care:

• T-KASH (Transition – Knowledge and Skills in Healthcare) is a tool designed to support young people, families and healthcare professionals to understand the care transition journey and what is important to young people. The guide was co-produced by young members of Alström Syndrome UK and sets out 12 key considerations when supporting someone with a transitions to adult services. They also have a video covering each of the key points to consider during transition.
• Ready, Steady, Go is a care transition tool, available in numerous languages, designed to help prepare young people for transition of care.
• Guidelines such as NICE guideline NG43 can guide you and help you monitor how well your healthcare service is supporting care transitions.

Expand your knowledge

You may see a range of patients with very different rare conditions. But people impacted by rare conditions report experiencing remarkably similar challenges. See our other articles about the diagnostic odyssey and mental health struggles that many people with rare conditions face. Medics for Rare Disease’s free Rare Disease 101 e-learning course can also help you learn more. And you can learn a lot from relevant patient advocacy groups.

• Moving from paediatric to adult health services, often referred to as ‘transition of care’, should be a gradual, supported process that takes into account the individual circumstances of each young person and their family.
• In practice, care is often transferred rather than transitioned, resulting in increased pressure on families and negative consequences for the physical and mental wellbeing of young people.
• Starting conversations about transition of care early, and maintaining open communication between healthcare teams and families, helps everyone understand the process and their roles, and to adapt more smoothly.

For clinicians

• Breaking Down Barriers: Let’s Get it Right for Young People! T-Kash tools (Transition – Knowledge And Skills in Healthcare) (video, 5 minutes)
• Breaking Down Barriers: T-KASH Transition Tools
• Cambridge Rare Disease Network: Improving Transition from Paediatric to Adult Care for Young People Living with a Rare Disease
• Medics for Rare Disease: Rare Disease 101 course
• NICE: NG43: Transition from children’s to adults’ services for young people using health or social care services
• Ready Steady Go (transition programme information)
• Royal College of Paediatrics and Child Health: Young people’s experiences of health transition
• Together for Short Lives: A checklist to a good transition

For patients

• Breaking Down Barriers: Let’s Get it Right for Young People! T-Kash tools (Transition – Knowledge And Skills in Healthcare) (video, 5 minutes)
• Breaking Down Barriers: T-KASH Transition Tools
• Great Ormond Street Hospital for Children: Healthcare transition
• Great Ormond Street Hospital for Children: Transitioning to adult services workbook
• Ready Steady Go (transition programme information)
• Together for Short Lives: A checklist to a good transition