Congenital Hyperinsulinism

Stephen Kinnock Excerpts

Tuesday 8th April 2025 Westminster Hall

[The Minister for Care (Stephen Kinnock)]

It is a pleasure to serve under your chairship, Ms Butler. I thank my hon. Friend the Member for Warrington South (Sarah Hall) for securing this important debate, which really is a tribute to her and to her constituents, Ibbie and her family, who have clearly been through a very challenging time but have shown tremendous strength, bravery, love and compassion. I would be grateful to my hon. Friend if she could pass on our very best wishes to the family and thank them for helping us to look at this issue.

The birth of a new member of the family should be a moment of excitement, celebration and, indeed, exhaustion. Realising that their baby might have a serious illness should be the last thing on any new parent’s mind. That is why getting help quickly is so important, as is ongoing support. Around 95 children are born with congenital hyperinsulinism in the UK each year. Although that means it is a rare disease, it should not be overlooked.

The Government are committed to improving the lives of people living with rare diseases. On that point, I have carefully noted the seven asks that my hon. Friend the Member for Warrington South listed, including her request to meet the relevant Minister. I should say that the lead Minister in this area is our colleague the Minister of State for Health, who is not present today—I am standing in for her. My officials will pass on to her all my hon. Friend’s asks, including the one for a meeting. I am sure that the Minister of State for Health will be happy to follow up on those points.

Rare diseases like congenital hyperinsulinism are individually rare but collectively common. There are more than 7,000 rare conditions, meaning that one in 17 people will be affected by one over their lifetimes. Each condition will have different symptoms and experiences, and every person is unique. Despite that, across all rare diseases there are shared challenges, which have shaped the approach of the UK rare diseases framework and England’s annual action plans. The national conversation on rare diseases in 2019 identified four priorities for the framework: ensuring that patients get the right diagnosis faster; increasing awareness of rare diseases among healthcare professionals; the better co-ordination of care; and improving access to specialist care, treatment and drugs.

[Graeme Downie (Dunfermline and Dollar) (Lab)]

I congratulate my hon. Friend the Member for Warrington South (Sarah Hall) on securing this important debate. I had not intended to intervene, but my hon. Friend raised issues similar to those in my constituency in respect of young boys diagnosed with Duchenne muscular dystrophy, who are having difficulty accessing the drug Givinostat in Scotland. I am aware that the Minister might not be able to respond immediately, but will he meet me to discuss access to that drug in Scotland, and how we can help other young people affected by a rare disease?

[Stephen Kinnock]

I am happy to look into that. Healthcare in Scotland is devolved, but all the nations of the United Kingdom can learn a huge amount from each other—nobody has a monopoly on good ideas—and it would be excellent to find out a little more about the issues my hon. Friend referred to.

The four framework priorities form the “what” of what we do, and are supported by underpinning themes—the “how” of how we get there. The themes include keeping the patient voice at the heart of all we do. I pay tribute to advocacy groups such as the Children’s Hyperinsulinism Charity and Genetic Alliance UK for their excellent work supporting families and continuing to raise important issues that help to make things better for people with congenital hyperinsulinism.

In England, we published the fourth rare diseases action plan on 28 February, which is otherwise known as Rare Disease Day. The plan provides updates on the progress made since the beginning of the framework in 2021. I am pleased to say that it also includes three new actions for the future, which aim to improve the co-ordination of care, make things easier for families who need to visit multiple specialists, and improve the environment for research on rare diseases in the UK.

Receiving the right diagnosis as soon as possible is vital, particularly for conditions that present in infants and young children, such as congenital hyperinsulinism. The Exeter Genomics Laboratory is the national provider of hyperinsulinism genetic testing and the research centre of excellence. That lab, the paediatric endocrinologist community, and highly specialised service units have a close relationship, so patients can be diagnosed rapidly and managed effectively via a multidisciplinary team framework.

A diagnosis means that the right treatment can be given early, ultimately helping to improve health outcomes. Advances in genomics represent a huge opportunity to find children with rare diseases as soon as possible. The generation study, which commenced last year, is run by Genomics England and is piloting the use of whole-genome sequencing in newborns to identify more than 200 rare conditions, including congenital hyperinsulinism. The study is now under way and recruiting across 18 NHS trusts. It aims to screen 100,000 babies.

Diagnosis is only the start of managing a rare disease, and I know that there is still unmet need. Too many people continue to struggle with challenges, including lack of access to reliable information or specialist treatment. Only 5% of rare conditions have an approved and effective treatment—that is a shocking statistic. To improve the situation, we have made pioneering research another underpinning theme of the UK rare diseases framework. The highly specialised technologies programme of the National Institute for Health and Care Excellence evaluates technologies for very rare, and often very severe, diseases. We are working with the regulatory system to look at access schemes such as the early access to medicines scheme, the innovative licensing and access pathway, the innovative devices access pathway and the innovative medicines fund. Those schemes are all designed to support the earlier availability of innovative treatments to patients who need them, and they must also work for rare diseases.

Many people struggle to access reliable information on rare diseases. With over 7,000 different rare diseases, which often need highly specialised input, the NHS website is not always the best place for such information—although I note the point that my hon. Friend the Member for Warrington South made about the website, and we will look into that. Patient organisations and charities play an important role in creating high-quality information on rare conditions. Therefore, in this year’s action plan we have set out the steps we are taking to support organisations to get the information they produce accredited under the Patient Information Forum’s trusted information creator—or PIF TICK—scheme, so that families will know they can rely on trustworthy information.

Living with or caring for someone with a rare disease can be mentally tough. We know that people living with rare conditions, and their families and carers, often struggle to access mental health and psychological support. This is not right. Alongside the wider steps that we are taking to improve mental health access, the NHS genomics education programme has this year published new resources on rare diseases and mental health, aimed at healthcare professionals. It has also developed a communications tool to help healthcare professionals with sensitive conversations, to ensure that patients and families feel supported throughout the diagnosis of a rare condition.

I close by again thanking my hon. Friend the Member for Warrington South, as well as those affected by congenital hyperinsulinism and organisations that advocate on their behalf. Although the five-year UK rare diseases framework will come to a close at the start of next year, we remain committed to improving the lives of those with rare diseases. The Under-Secretary of State for Health and Social Care, my hon. Friend the Member for West Lancashire (Ashley Dalton) will work with officials and colleagues in the devolved Governments to chart a course forward and maintain the momentum we have built.

Question put and agreed to.