Congenital Hyperinsulinism

There are misconceptions about the condition; comments from health professionals to my constituent when they are told about Ibbie suffering from hyperinsulinism include, “Is that like diabetes?” Improving clinical understanding of CHI is essential. At present, no routine test for the condition is carried out in newborns. The standard heel-prick screening, familiar to most parents, does not check for hyperinsulinism. For families like Gavin and Joanne’s, early diagnosis comes not through systemic checks but chance; their daughter Ibbie was seriously unwell at birth, which prompted further testing and led to the diagnosis. Others are not so fortunate. Many children with the condition show few symptoms initially, and diagnosis only follows a serious health episode. In too many cases, it is not clinical vigilance that identifies the issue but emergency.

That unpredictability is compounded by geography. Families describe a postcode lottery in access to timely treatment and care. In Ibbie’s case, even medication is not easily obtained in Warrington. Her parents must travel to Alder Hey, where she is able to receive the specific brand that she requires. For a family already managing a complex health condition, that adds further pressure and strain.

I have some specific asks, drawn directly from the lived experiences of families in my constituency and beyond. The first is to ensure that congenital hyperinsulinism is added to the NHS website as a priority, to raise awareness with healthcare professionals, caregivers and the general public; the second is to work with families, charities and health professionals to create an information campaign and resource pack for parents and other frontline health professionals; and the third is to guarantee equitable access to treatment, medication and monitoring technology, including CGMs, regardless of geography or condition type.

My fourth ask is to provide more consistent support with benefits processes, such as DLA, where families currently face a wall of bureaucracy and misunderstanding; my fifth ask is to address disparities in access to key medications, such as diazoxide, and work to prevent supply shortages; and my sixth is to fund ongoing research into treatments to reduce the need for invasive procedures such as pancreatectomies. Finally, will the Minister meet the families affected by hyperinsulinism, including Gavin and Joanne, to hear directly from them and explore how the Government can close the health and care gap?

In closing, let me return to the heart of this debate: not just the medical condition, but the families whose lives are shaped by it—people like Gavin and Joanne, and their daughter Ibbie, whose story reminds us that behind the terminology and statistics are children who deserve the chance to thrive, and parents who deserve to feel supported and not abandoned. We must not accept a healthcare system where someone’s postcode determines the standard of care their child receives, nor should we tolerate a lack of basic awareness among professionals about a condition with such serious implications. When families are educating their GPs and nursery staff on how to manage their child’s condition, something is wrong.

Every child deserves the same level of care, and every parent deserves the reassurance that the system is there to support them. Families like Ibbie’s are not asking for the world. They are asking for recognition, understanding and a system that helps them to do what they already do so well: love and care for their children. We owe them that, and more.

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.