Rare diseases action plan - progress report: child rights and wellbeing impact assessment

Child Rights and Wellbeing Impact Assessment Template

Introduction

1. Brief Summary

Type of proposal (Please state):

Bill No Scottish Statutory Instrument No

Decision of a strategic nature relating to the rights and wellbeing of children Yes

Progress Report on Action Plan for Rare Diseases (2024)

Key Terms explained

chronic – something bad (such as a disease) continuing for a long time

diagnostic odyssey – the time between when a symptom or feature of a genetic or rare disease is noted to the time when a final diagnosis is made

geneticist - someone who specializes in the science of genetics, which is a branch of biology that deals with the characteristics of different organisms (something that makes up a living thing). They look at the development of such characteristics, and how these characteristics are passed on

A rare condition is defined as a condition which affects less than 1 in 2,000 people. Approximately 412,080 people out of a population of 5,151,000 in Scotland have a rare condition, and it is estimated that there are over 7,000 different rare conditions. Rare conditions are thus individually rare, but collectively common, with 1 in 17 people being affected by a rare condition at some point in their lives. Most rare conditions are chronic and will require management throughout a person’s life.

The UK Rare Diseases Framework, co-produced by the UK Government and devolved nations, was published in January 2021. This identified four shared priorities, following extensive stakeholder engagement, to improve the lives of people living with a rare condition: faster diagnosis, increased awareness among healthcare professionals, better co-ordination of care and improved access to specialist care, treatments and drugs. Working to these four priorities, each administration’s task was to publish a nation-specific Action Plan by the end of 2022. Scotland’s Action Plan for Rare Disease was published in December 2022. We are now publishing our first report on our progress implementing our Action Plan. Therefore the parameters of this CRWIA will focus on the impact of this progress.

Our Action Plan was written on the principle of ‘What matters to you’, foregrounding the feedback we had received from community engagement. This Progress Report will continue giving the same importance to what people and families living with a rare condition consider to be priorities for action.

Start date of proposal’s development: 19 Dec 2022

Start date of CRWIA process: 13 May 2024

2. With reference given to the requirements of the UNCRC (Incorporation) (Scotland) Act 2024, which aspects of the proposal are relevant to children’s rights?

By taking forward our actions to improve the lives of those living with a rare condition in Scotland, children and young people living with a rare condition, and their families, will benefit from a shorter diagnostic odyssey, healthcare professionals having greater awareness of rare conditions, improved co-ordination of care, and improved access to specialist care.

Our Action Plan and Progress Report will have a positive impact on children’s rights, in particular Articles 2, 3, 6, 17, 23, and 24.

Please provide a summary of the evidence gathered which will be used to inform your decision-making and the content of the proposal.

Our Action Plan, and this Progress Report, were developed with input from Scotland’s Rare Disease Implementation Board (RDIB), which includes representation from clinical geneticists, healthcare professionals and researchers and third sector organisations who support people with rare conditions.

Community engagement was facilitated by Genetic Alliance UK so that those living with a rare condition, and those involved in care and/or advocacy, would have their priorities at the centre of our Action Plan and in noting our priorities going forward with this Progress Report. This engagement included parents who cared for children with a rare condition. Genetic Alliance UK have also published several reports detailing the impact on families of caring for a child with a rare condition. Engagement was held to ensure that evidence from the Rare Diseases Framework matched the priorities of the community in Scotland, and to gather more detail on their lived experience. Feedback from this formed the development of our Action Plan and Progress Report.

Correspondence received from the rare community, including parents and carers, provided evidence on the experiences of those living with a rare condition and what the current issues are.

3. Further to the evidence described at ‘3’ have you identified any 'gaps' in evidence which may prevent determination of impact? If yes, please provide an explanation of how they will be addressed.

We do not have, and did not seek as part of the development of the strategy or progress report, views of children and young people or data on their experiences of current services. However, community engagement did include parents and carers of children and young people with a rare condition, which we considered to have covered their views and needs to sufficient extent for our purposes.

Going forward we will continue to work with our third sector partners to seek out opportunities for children and young people, and their families to feedback and inform our rare conditions policy.

4. Analysis of Evidence

Our analysis of key reports showed:

• Genetic Alliance UK – Good Diagnosis report: outlines the importance of providing timely diagnosis so that patients and families can access effective care sooner.

The report details community feedback on themes including not being believed when reporting unfamiliar symptoms, or GPs not knowing what to do/what referrals to put in place, given how infrequently (if ever) they encounter a rare condition. Even if referral is given, multiple appointments are often required before diagnosis. Support after diagnosis, being well informed and knowing where to turn to were also highlighted as priorities.

• Genetic Alliance UK – Stats Behind the stories report: recommends that clear supportive information should be provided, and improvement work should encompass all rare conditions whilst taking the most common groups as examples in which good practice can be identified.

The Stats Behind the Stories report was discussed at our Rare Disease Implementation Board: the strategic grouping of conditions to provide common support was noted as aligning with our aim to identify good practice which could be applicable to a wide range of rare conditions by drawing out commonalities in the care required. This pragmatic approach continues to influence our priorities going forward. Identifying commonalities across groups of conditions also eases the task of designing care pathways, which we will bear in mind for future work in this direction.

• UK Rare Disease Framework and Rare Disease Action Plan: set out four key priorities as identified by rare community and third sector: that people living with rare conditions benefit from faster diagnosis, from healthcare professionals having increased awareness, from better co-ordination of care and improved access to specialist care.

The UK Rare Diseases Framework was developed in extensive consultation with the rare community, and gathered extensive evidence on their lived experience of accessing diagnosis and effective care. The consensus that diagnosis could be delayed sometimes by years; that healthcare professionals lacked understanding to identify rare conditions; that appointments with specialists could be frequent and poorly co-ordinated, and that access to specialist care was limited, led to the four shared priorities that each UK nation was tasked with developing into an Action Plan.

Scotland’s first Action Plan for Rare Diseases took the priorities of diagnosis, awareness, co-ordination and specialist care through a suite of engagement sessions, so that we could develop our Action Plan specifically from the identified needs of the rare community in Scotland. This was integrated into our Action Plan in the form of quoted feedback, followed by explanations as to how each of our actions would benefit people living with a rare condition.

Correspondence from parents of children with rare conditions demonstrated ongoing challenges with raising awareness of rare conditions and access to treatment and care.

Further engagement, again led by Genetic Alliance UK, took place in early 2024 to check that the community’s priorities still aligned with our progress and our intended forward look. This informed the development of our Progress Report.

5. What changes (if any) have been made to the proposal as a result of this assessment?

Evidence from the most recent rare community engagement, and evidence prior to this, have informed our priorities for the year going forward. To maximise our resources, we are prioritising actions that will rase awareness among healthcare professionals of rare conditions. This is key to all community priorities, from reducing the time to diagnosis and time burden, ensuring people can make the most of appointments and feel listened to, to shortening the time to effective care. We are further progressing work to enable faster diagnosis by supporting the development of genomics services, and learning from work in the other UK nations to support the diagnosis of non-genetic conditions.