Patients with Rare Diseases

Deidre Brock Excerpts

Thursday 9th March 2023 Westminster Hall

[Deidre Brock (Edinburgh North and Leith) (SNP)]

It is a pleasure to serve under your chairship, Mr Sharma. I congratulate the hon. Member for Strangford (Jim Shannon) on securing this important debate. I was certainly not familiar with some of the details that we have heard today. I look forward to the Minister’s response.

A rare disease is defined as a condition that affects fewer than 1 in 2,000 people, but that statistic in isolation is misleading. It is estimated that over 412,000 people in Scotland have a rare disease—more than one in 10. Rare diseases might be individually rare, but collectively they are not uncommon. The hon. Member for Strangford reminded us that we must not look at the statistics simply as a series of numbers, because those numbers represent people and the family members around them—a very important point. He shared details of conditions that he is familiar with, and some that he is personally acquainted with through colleagues.

The hon. Member also spoke of the importance of the four nations working together. He will be pleased to hear that the Scottish Government worked closely with the other devolved bodies and the UK Government to produce the new UK rare diseases framework, which builds on the 2013 UK strategy for rare diseases. He is always an optimist, and he reminded us that there is hope, given the work being done on these issues. He brought our attention to the smart suit, which I had not been aware of. That sounds like a really positive development, so I look forward to hearing more about that and the differences it can make to the people who will be able to make use of it.

The hon. Member for Blaydon (Liz Twist), chair of the APPG on rare, genetic and undiagnosed conditions, spoke of the challenges for those with rare conditions, and described how they wait for years for a correct diagnosis. She spoke about the lack of recognition and diagnosis, which leads to further difficulties accessing vital support for housing and benefits—a really important point.

[Jim Shannon]

I thank the hon. Lady for making that point. I mentioned that it takes, on average, almost five years for a diagnosis. I am sure she will ask the Minister to get the diagnosis timescale reduced to a manageable period, because it is unacceptable to have to wait five years.

[Deidre Brock]

It is indeed unacceptable. I am sure the Minister will address that point. I thank the hon. Member for that intervention.

The hon. Member for Blaydon mentioned the emotional strain experienced by those with rare conditions and their families. Again, that was an important point. She also highlighted the need for longer-term funding for research and development. I hope the Minister will be able to give us good news on that front, because that is a crucial issue. Short-term funding dries up and leaves researchers high and dry when they could be progressing a method of addressing the conditions that people suffer from, which is what we would all like.

Rare Disease Day, marked on the last day of February each year, brings the rare disease community together to advocate with one voice, and to raise awareness of the impact of these often overlooked or unknown conditions, most of which do not have large advocacy groups or funding grants. Today marks an important opportunity to draw attention to them in Parliament, so I again congratulate the hon. Member for Strangford on securing the debate.

The long-term goal of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care, and social opportunity for people affected by a rare disease. As hon. Members have highlighted, rare diseases are often life-threatening or chronically debilitating, and can have a wide-ranging effect on a person’s life, impacting education, financial stability, mobility and mental health. As the hon. Member for Strangford said, 75% of rare diseases affect children, and more than 30% of children with a rare disease die before their fifth birthday—a tragic statistic that must strengthen our resolve to improve our knowledge, understanding and treatment of rare diseases.

As has been pointed out, for those living with a rare disease, a diagnosis is crucial to understanding how they can move forward with their life, treatment and prognosis. However, sadly it takes on average almost five years to receive an accurate diagnosis of a rare disease. It is therefore vital that all those living with a rare disease get the right diagnosis faster, and can access co-ordinated care and specialist treatment. That is a core objective in the Scottish Government’s rare disease action plan, published in December. It sets out how the Scottish Government will implement the priorities of the UK rare diseases framework. It was developed in close collaboration with the rare disease community to ensure that their needs are appropriately reflected across wider policy on, for example, mental health and social care.

The plan includes a number of objectives on ensuring that patients receive a faster diagnosis, including through genomic testing, which the Scottish Government are supporting through the implementation of the Genome UK strategy. The Scottish Strategic Network for Genomic Medicine was recently established to advise and make recommendations on genetic testing availability. It will also support the planning for future capacity in areas such as whole genome sequencing and expanding our whole exome sequencing services. Later this year, Scotland’s first ever genomics strategy will be published and backed by significant investment, with £5 million committed for 2022-23 alone.

As the hon. Member for Blaydon mentioned, newborn screening has a vital role in early diagnosis of some rare diseases and the initiation of early treatment to reduce complications. The Scottish Government are represented on the UK National Screening Committee, which makes its recommendations to all four health Departments across the UK. Through Scotland’s rare disease implementation group, those living with a rare disease will be involved in any future screening considerations, and given information so that they understand how screening impacts them and their families.

Another important commitment is the planned expansion of the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland. That includes a national register that collects and holds information about babies in Scotland with a major structural or chromosomal condition or recognised syndrome. The register will be extended to collect and hold information on other rare diseases. Access to better data on rare diseases and making use of digital tools can help clinicians to make better informed decisions on care, prevent disease and allow better access to research and clinical trials. As has been mentioned, there are over 7,000 different rare diseases, so it is not possible for healthcare professionals to receive comprehensive training on every condition. It is therefore important that they are aware of rare diseases more broadly, and are more alert to considering them.

The Scottish Government are working with NHS Education for Scotland to embed more formal education about rare diseases in the training for healthcare professionals. In addition, information on rare diseases on NHS digital platforms will be improved, both for those diagnosed with a rare disease and for healthcare professionals.

Finally, the action plan sets out steps to improve the co-ordination of care, so that people living with rare diseases will have fewer wasted appointments, will benefit from the expertise that is available through multidisciplinary care, and will get care that is better tailored to their needs. That includes improving access to treatment and drugs, building on the ultra-orphan medicines pathway, which is improving access to medicines for rare and end-of-life conditions.

The Scottish Government are establishing a national care service to ensure that Scotland’s social care system consistently delivers high-quality services to benefit many people living with rare conditions. That is made possible by record funding of more than £19 billion for health and social care in the recent Scottish Budget, which represents more than £1 billion of new investment. I agree with the hon. Member for Strangford that it is imperative that we all continue to work across devolved and reserved areas to generate change for those living with rare diseases, their families and their carers. No one should be made to feel helpless or invisible because they have a rare disease.