Patients with Rare Diseases

Liz Twist Excerpts

Thursday 9th March 2023 Westminster Hall

[Liz Twist (Blaydon) (Lab)]

It is a pleasure to serve under you in the Chair, Mr Sharma. I congratulate my friend, the hon. Member for Strangford (Jim Shannon), on obtaining this really important debate. I want to talk about the rare disease action plan and other issues affecting rare diseases.

I was first introduced to the rare disease community when my constituent Barbara got in touch to discuss the difficulty she was having in accessing treatment for her son, who has phenylketonuria, or PKU. Thankfully, we were able last year to get access to the drug to treat PKU, sapropterin—thankfully, it is now a generic—in order to treat those who respond to it, and I am glad that we were able to do that. Since then, and with that experience, I have taken on the position of chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions. It has been an absolute joy to work with some incredibly resilient communities who face a range of complex and common challenges, despite the different symptoms, conditions and situations they face.

I want to give some context by setting out a few statistics, which may be familiar to some hon. Members. One in 17 people will be affected by a rare condition at some point in their life, which equates to around 3.5 million people in the UK. A rare condition is a condition that affects less than one in 2,000 people. There are over 7,000 rare conditions, as we have heard, and around 95% of people living with a rare condition have one of the 400 most common rare conditions. Some 80% of those conditions have an identified genetic origin, and 75% of rare conditions affect children. That sets the context: although rare diseases are individually rare, they actually affect a large proportion of the population.

The challenges facing people with a rare disease—and, let us not forget, their families—include waiting years for a correct diagnosis and, once they have a diagnosis, difficulties in accessing treatment and support. This is quite often due to a lack of awareness of rare conditions among healthcare professionals, a lack of licensed medical products to treat the conditions, and a lack of mental health support. In my dealings with the rare disease community and patient groups, I have certainly found that having a rare condition places huge strains on people and their families, and it really tests their mental health and wellbeing. More broadly, the lack of recognition leads to further problems in accessing a whole range of services, including education, social care and housing.

I will refer to issues that we need to look at further, some of which are touched on in the rare disease action plan, particularly the second version for England, which the Minister issued two weeks ago, on Rare Disease Day. First, I will talk about newborn screening, and specifically the issue of faster diagnosis. The UK could be doing more with newborn screening. The blood spot heel-prick test given to every newborn in the UK screens for a maximum of nine conditions, but many countries in Europe, and other parts of the world, screen for more than double that number.

Newborn screening is an absolutely vital tool in the light of new treatments being developed that can have a really life-changing impact if delivered pre-symptomatically. Take spinal muscular atrophy, a rare condition causing progressive muscle weakness and loss of movement due to muscle wasting. Without swift treatment, it is the leading genetic cause of infant death. Babies treated pre-symptomatically can experience life without symptoms, but once symptoms have developed, most infants with SMA will never walk independently. Many will need mechanical ventilation, nutritional support and continuous care.

Ten European countries and all but two US states have moved to approve SMA newborn screening, but we are yet to see progress on that in the UK. We have children born with SMA that is not identified at the earliest opportunity. Treatments are helpful only if they are used immediately, before symptoms develop. It is really important that we do that. There are other conditions that we believe could helpfully be screened for in the newborn heel-prick test. That would allow for the treatment of a number of conditions as children develop.

Unfortunately, due to the rare nature of some conditions, it can be challenging to develop a large body of evidence to support newborn screening for them, in the light of the high bar set by the UK National Screening Committee. As chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions, I know that Genetic Alliance, which provides our secretariat, has held discussions with a representative of the committee to look at the wider issue, not specifically SMA. I have recently been working with the all-party parliamentary group for muscular dystrophy and the rare disease community on an inquiry on newborn screening for SMA. Hearing the testimonies from families and clinicians, it is clear that there needs to be a change to the process in recognition of the difficulties inherent in making decisions about rare conditions, and the difference that a longer list of screened-for conditions could make.

I next want to mention care co-ordination, an issue that is tackled in the action plan. Due to the lifelong and complex nature of many rare conditions, people often need support from a wide range of healthcare professionals, from specialist hospital consultants to learning disability nurses, and a wide range of multidisciplinary services. Too often, we have found that the burden of organising care is left on individuals and their families, placing further strains on them.

For example, on Rare Disease Day, the APPG heard from Blessing, who was born with sickle cell anaemia. Blessing’s care was organised between London hospitals, and she often found herself having to personally update health and educational professionals on aspects of her condition and care. She spoke to us candidly about the emotional strain that placed on her and her parents, and how it affected her whole relationship with the healthcare system.

Unfortunately, on a visit during one of her episodes, Blessing went on to be diagnosed with a rare lymphoma in her early 20s. She described the change she experienced at that stage, and how she was supported through the experience by a care co-ordinator, who briefed her on everything she needed to know about accessing, for example, travel support, help to stay in work, and a social worker during treatment. That was through the identification of the cancer, and not through her rare disease. In Blessing’s words, she had never felt closer to a healthcare professional, despite having been in close contact with the healthcare system her whole life. That is not to undermine the impact the cancer diagnosis had on Blessing’s life, but to emphasise the importance of well-organised logistical support that bridges the gap between services.

A report from Genetic Alliance UK found that more than 90% of people living with rare conditions and their care givers have struggled with stress, anxiety and low mood, with many of them citing limited knowledge of their condition as a contributing factor. It is absolutely clear that care co-ordination, as well as the appropriate psychosocial support, is needed to support the rare disease community.

I want to talk about research and development, because there are still so many undiagnosed conditions—cases where there is clearly an issue, but no one can put a name to the condition. That is difficult for developing treatments and helping families. We know the impact that innovation in research and development can have on patients, as proven by the progress in treatments for conditions such as SMA and PKU. In November last year, I visited the Wellcome Centre for Mitochondrial Research, which is based in Newcastle University. I was blown away by the incredible and inspiring work they are doing. Mitochondrial disease, or mito, is the term for a group of medical disorders caused by faulty mitochondria, which generate about 90% of the energy that we need to live. These disorders can be serious or fatal. Furthermore, faults in mitochondria are the root cause of hundreds of other conditions, including cancer, Parkinson’s, epilepsy, dementia and strokes. One in 200 people in the UK carries a faulty mitochondrial gene. There is currently no cure, but great work is being done in Newcastle and other centres.

Newcastle’s Wellcome Centre for Mitochondrial Research team are internationally recognised world leaders in their field, with strong links to clinical practice, which is a distinctive part of their work. They work with patients to develop treatments and help them. Their dedication and contribution is a great source of pride for the north-east region, but investing in the research is critical to the success of the whole operation. Researchers such as the mito team in Newcastle often rely on short-term grants, making it difficult to build the long-term project that would deliver the seismic change that is needed. I urge the Government to extend their role in this field, and to place funding for rare disease research on a secure footing. I am glad to say that the leader of the centre and some of the representatives were able to speak briefly to the Minister when she came to our rare diseases reception.

The UK rare diseases framework is a good sign that we are making progress on raising awareness of the issues faced by the rare disease community, whether it be care co-ordination, faster diagnosis or licensing new medicines, but long-term funding and resource are needed if we are to realise the aspiration set out in the action plan. Committing to improving care for people with rare diseases means producing a tangible change in their day-to-day experience of the healthcare system and other services. I hope we can come together as parliamentarians to help realise this change.

I ask the Minister to keep up the pressure, through the action plan, so that we make the necessary changes, support people with rare diseases, and find cures and treatments. I ask the Minister to ensure that people with rare diseases have a faster diagnostic odyssey, as they call it, and to look again at continuity of care. The Minister might have seen the report produced by Genetic Alliance UK on Rare Disease Day, which sets out in more detail its findings on what needs to be done. That is one of the planks of the rare disease framework, and it is something on which we need to see action. We need to ensure, as the hon. Member for Strangford said, that there is access to new treatments. We need to do that via the innovative medicines fund, and I would be pleased to hear how that is progressing, because some people are feeling a bit frustrated with the situation.

We also need to ensure that the National Institute for Health and Care Excellence, which reviewed the methods last year, and has gone to a modular approach to reviewing its decision making—hopefully one that is more responsive to the needs of individual groups—keeps rare diseases at the forefront of the process.

--- Later in debate ---

[Helen Whately]

As the hon. Member described, it is fantastic that a mum who saw the problem and the opportunity came up with a way of helping. I will have to write to him to answer his question. I assure him, and everyone present, that we will take further steps to make it easier for the rare diseases community to participate in research. That is exactly the point. It is very important that those most affected—the individuals and their families—are involved in research and innovations, such as the one the hon. Gentleman described. We will continue to improve the use of securely held national datasets in research.

Our new plan seeks to reduce the health inequalities experienced by people living with rare conditions. The hon. Member for Strangford spoke of pemphigus vulgaris and its greater prevalence among some ethnic groups. That is one aspect of health disparities, but health disparities can be faced by all people living with a rare disease when they seek to access the services they need, and we aim to address that. Through NHS England’s Core20PLUS5 framework, we will help integrated care systems to address the health inequalities faced by people living with rare conditions.

Similar efforts are under way in all four nations of the UK. Although each nation is taking a distinct approach through its action plan to best meet the needs of its healthcare system and population, we continue to work closely across the four nations to ensure that we learn from each other.

I assure the hon. Member for Strangford that I share his views about the importance of co-operation across the UK on rare diseases. The rare diseases advisory group at NHS England has membership from all devolved nations to ensure that it identifies and seizes opportunities for collaboration. Patients can move between parts of the UK to access specialist services.

The hon. Member for Blaydon mentioned the newborn heel prick, or newborn blood spot screening programme, and asked whether we could screen for more conditions, specifically spinal muscular atrophy, or SMA. We test for more than 30 rare conditions during pregnancy and the newborn period, and nine conditions via newborn blood spot screening. There is a good reason why we screen for fewer conditions in the UK than in other countries: it is because we believe that we have a more rigorous approach to evaluating the benefits, and also potential harms, of screening than other countries.

The 2022 rare diseases action plan committed us to establishing a blood spot task group to further develop the evidence base for newborn blood spot screening. The UK National Screening Committee has since established the blood spot task group, which is working to improve the evidence available to the screening committee when considering the screening programmes to be added to the blood spot.

[Liz Twist]

Having had discussions with the newborn screening committee representative, I am aware of the concern that we do not want to go too far, and we want to be rigorous, but it does seem that, in comparison with many other countries, we are selling ourselves short. I am glad to hear about the taskforce, and I know that Genetic Alliance UK is represented on that, but there is real concern in the rare disease community that there are things that we could be testing for. We do not seem to be able to make progress. SMA is a classic case of that.

[Helen Whately]

I hear the hon. Lady’s concerns. There is clearly a level at which it would be inappropriate for me to get involved in such decisions, which are generally made by expert committees, but I am happy to look into her question further, and to write to her with what I find out.

I want to leave everyone present with a clear message: the Government are committed to addressing the challenges faced by the rare disease community. I understand that at times it can seem as though progress is not happening quickly enough. Nevertheless, we have seen real progress since the publication of the action plans, and I want us to go even further. With the continued support and partnership of the rare diseases community, for which I am immensely grateful, we will not only strive but succeed in doing better for those with rare diseases every single day.