I am happy, like other members, to take part in this debate and to close for the Government. Again like other members, I offer my condolences to the family of Beth Beattie, who was clearly a very brave little girl who had a very difficult fight in her too-short life. I commend her parents, Roger and Eva, for their tireless fundraising work for Memories are Better than Dreams, a charity that helps families make special memories with their children towards the end of their life.
As a mother of two wee boys, I cannot imagine, like Colin Smyth, the pain of seeing your wee one going through so much. I put on record how inspiring Roger and Eva are and how brave and courageous they are in sharing the experience that they have gone through. To honour wee Beth, we as a Parliament must resolve to ascertain where we can make improvements. As Kenny Gibson rightly stated, behind every figure and statistic in this area there are people and their experiences of pain, suffering and grief. We need to make the situation better and make improvements where we can.
I commend Ash Denham for bringing the debate forward, especially as today is neurofibromatosis awareness day, and I am incredibly encouraged to see so many people across the Parliament showing their support. The Scottish Government continues to be supportive of the charities that do so much important work to raise awareness of the rare disease of neurofibromatosis. Funny Lumps and other organisations have been mentioned in the debate, and their innovative work is greatly appreciated by the Scottish Government.
Ash Denham is right to seek to raise awareness of Nf and to outline the condition’s physical impact and emotional and mental impact, whether for a young child struggling at school or an adolescent coping with how the condition makes them look. We must ensure that the structures that we have in place kick in, to ensure that families feel supported and that our national getting it right for every child approach to children’s services is true for children who have Nf.
Our health and social care delivery plan, which was published in December last year, sets out our aim to provide high-quality services for Scotland and includes a focus on early intervention and supported self-management. Alongside that, our approach to personalised care was outlined by the chief medical officer in her report “Realising Realistic Medicine”. The approaches that we take to ensure that people feel empowered and supported must work for those with Nf, and we need to ensure that awareness is raised and that appropriate and timely intervention happens when it is most needed.
The Scottish Government published the rare disease implementation plan, “It’s Not Rare to Have a Rare Disease”, to deliver commitments in response to the UK rare disease strategy. The plan aims to improve diagnosis and access to co-ordinated service provision and to facilitate work with research communities.
More specifically in relation to Nf, the NHS National Services Scotland division—NSD—commissions access to specialist services through service agreements with NHS England. Accordingly, there is free access to specialist treatment for all residents of Scotland with complex Nf1. However, not all people who are diagnosed with Nf1 require highly specialised care. In Scotland, genetics services make the diagnosis of Nf, provide the patient with information and make arrangements for follow-up and on-going management. The need for annual follow-up and information about what is required and who to contact with queries is recorded in a letter to the patient’s GP, as well as in correspondence to the patient.
We recognise that a young person living day to day with neurofibromatosis needs support outwith the highly specialised services, and I understand that periodic genetic reviews are offered so that any issues—including education issues—can be recognised and addressed. At every stage, clinicians in primary and secondary care are also made aware that if they or the patient have any concerns, they can request a genetic review.
Awareness raising about the condition is very important so that our medical professionals, particularly general practitioners and others with a general knowledge of healthcare, have a heightened awareness of Nf. Taking cognisance of everybody’s views and contributions this evening, we recognise that that awareness raising needs to be felt more keenly and we will look to see where improvements can be made.
In relation to Nf2, genetic testing for Scottish patients is available from the Sheffield diagnostic genetics service. NSD has an agreement with NHS England that enables access to the specialist Nf2 service for clinicians and patients, and the clinic can advise on disease management and treatment options. Additionally, NHS Greater Glasgow and Clyde hosts a specialist Nf2 clinic. The clinical team is interested in providing a nationally designated service for Scotland, the feasibility of which is currently being considered by NSD with the help of the managed service network for neurosurgery. The hope is to form a patient pathway to improve access to specialist support and co-ordination of care for that group of patients. We will ensure that NSD has a close understanding of the issues that members have raised and that their contributions feed into NSD’s considerations.
Members have raised the issue of research, and research into rare diseases is vital to learning more about them, including how they occur, how to diagnose them and how to treat them effectively and correctly. It also helps with the awareness raising that our medical professionals require. Through research, we also learn people’s views on how they want to manage their disease and where they want to do that.
On rare disease day, the Cabinet Secretary for Health and Sport announced the launch of the rare disease genomics study by the Scottish genomes partnership in collaboration with Genomics England. The study will offer more than 300 people with rare, genetic or difficult-to-diagnose diseases—and their close family members—the opportunity to have their entire genetic code sequenced. The study, along with other on-going work, is a significant milestone in achieving quicker diagnoses for people. That important work is the key to ensuring that we deliver the best possible care and support for people with rare diseases, including Nf.
The European Commission is required to support member states in the development of European reference networks. The purpose of ERNs is to provide better access for patients to highly specialised care and to improve and to pool knowledge for clinicians, which will aid diagnosis and care in an area in which expertise is rare. Such collaboration will enhance the adoption of innovations in medical services and health technologies and will enable the sharing of knowledge in the UK and across Europe as a whole. It will help to enhance our knowledge of how conditions such as Nf manifest themselves and how we respond to that knowledge. The European Union has approved 24 ERNs covering areas such as rare bone disorders, paediatric cancers and genetically inherited conditions. Seven hospitals in Scotland and 102 in the rest of the UK will be participating directly in those networks.
On calls for more routine MRI scans, we will follow up on specific matters with members. Our understanding is that because this type of condition can manifest itself in different ways and, therefore, different investigations or treatment options may be appropriate for different patients, the decision to undertake an MRI scan is one for the clinicians involved, based on the needs of the patient. We will take on board the points that have been made, but clinical decision making is so important. We need to make sure that the understanding and knowledge of the condition are much more visible and keenly felt, so that we have the right support at the right time.
Beth’s story, her bravery, which has inspired the raising of so much money, and the great joy that she brought in her four short years are the inspiration that we will all use to ensure that there is greater awareness and understanding of the condition. We will continue to explore ways in which we can make the difference that I am sure Beth’s parents want us to make and which will honour Beth’s memory as well.
I thank Ash Denham for bringing the debate to the Parliament, the members who contributed to it and those in the public gallery, whose support is clearly felt. We will continue to work with everyone to make the difference that we all want.
Meeting closed at 17:51.