UK Rare Diseases Framework

Liz Twist Excerpts

Wednesday 24th March 2021 Westminster Hall

[Liz Twist (Blaydon) (Lab)]

I beg to move,

That this House has considered the implementation of the UK Rare Diseases Framework.

It is a pleasure to serve under you in the Chair, Mrs Miller. About one in 17 people will during their lifetime be affected by a rare condition. Around 70% of such conditions begin in childhood and are lifelong. Genetic Alliance UK estimates that rare diseases are responsible for about one third of infant mortality in the UK. Those living with a rare condition can face significant challenges in getting a diagnosis, getting access to treatment, and receiving co-ordinated care, as well as challenges with employment, education, social life and mental health.

The UK rare diseases framework, which was published earlier this year, presents an opportunity for the rare diseases community. There is hope that the framework will enable people living with rare, genetic and undiagnosed conditions to get access to the appropriate care and the treatment that they need to manage their condition. However, we have been here before. In 2013 the UK strategy for rare diseases was published, with the promise that no one would be left behind just because they have a rare disease. When the strategy expired last year, people living with rare conditions were confused and disappointed. Although the strategy had made some progress, it had failed in its commitment to transform the lives of all those affected by rare conditions.

A major factor that prevented the true potential of the strategy from being realised is the long delay from the Department of Health and Social Care or NHS England in developing and publishing an implementation plan. The strategy was published in 2013, yet an implementation plan for England was delivered only in 2018. Not only did that prevent progress in England; it also stymied developments in the devolved nations, which were unable to collaborate effectively without a plan. As yet, the Department of Health and Social Care and NHS England have not published the outcome of the strategy. If we are to learn from the mistakes of the past, we must evaluate what happened with the strategy. Will the Minister comment on whether the Department of Health and Social Care and NHS England will in fact report on the outcome of the strategy?

The UK rare diseases framework is the beginning of a new chapter. For it to be implemented effectively, the Department of Health and Social Care and NHS England must work together to deliver a timely and comprehensive action plan. That action plan is needed now more than ever because the rare diseases community has been waiting long enough for improvements in care and treatment. The pandemic continues to bear heavily on the health and wellbeing of those with rare conditions, who are among the most vulnerable to covid-19 impacts. There is a gap in detailed policy to drive improvements for people living with rare conditions in the UK, until action plans are published to implement the framework.

The framework covers four key areas and seeks to make progress. The first priority is to help patients to get a final diagnosis more quickly. On average, rare disease patients wait four years to receive a diagnosis, with some waiting over 20 years. For people with a rare condition, it is often a long journey, frequently with several misdiagnoses, until a final correct diagnosis is reached. Often this journey is labelled as the diagnostic odyssey. The framework describes what is already happening to improve diagnosis, but it does not talk about improving the screening service for people living with rare conditions. The UK National Screening Committee currently screens for just nine conditions using the heel-prick test. That compares poorly with many European countries: Italy and Iceland screen for more than 40, Poland and the Netherlands screen for more than 30, and Hungary, Slovakia and many others screen for more than 20 conditions.

Earlier this month, the National Institute for Health and Care Excellence approved access to a new gene therapy for spinal muscular atrophy. NICE said that for some babies who are diagnosed before they have symptoms, it might come close to being a cure. For it to have the chance to be a cure, however, we need to identify the babies before they begin to be affected by the condition. To do that, we need newborn screening for spinal muscular atrophy. We need joined-up thinking that allows a screening programme to be developed in parallel as such medicines come over the horizon. Will the Minister confirm whether we will increase the scope of newborn screening in the UK or make changes to the UK National Screening Committee’s processes?

The framework also talks about Genome UK and the NHS genomic medicine service helping patients to get a final diagnosis more quickly, but it does not talk about how patients will access such services. The framework recognises that people with non-genetic conditions needs to be diagnosed through other means. We will need an action plan that sets out a realistic way to improve this, and we will need to demonstrate that the system becomes better at diagnosing everyone, not just those who are found through genome sequencing. Can the Minister confirm that that will be done?

Moreover, the framework does not talk about what happens after a diagnosis is delivered. We cannot abandon people after we have given them their diagnosis. My final point on diagnosis is this: what about the people who are stuck on the diagnostic odyssey? Do we know how many people have been waiting for five, 10 or 20 years for a diagnosis from the NHS? Will we track such people? Will we monitor whether everyone is receiving equitably the tests to which they are entitled? Will the Minister please comment on that?

The second priority of the framework is to increase awareness among healthcare professionals of rare diseases. People affected by rare conditions meet many healthcare professionals on their journey to find a diagnosis, and beyond while they live with their rare condition. For some it is a positive experience; for others it can be particularly challenging. This year, Genetic Alliance UK received an inquiry from an individual whose GP had told them that they could not possibly have the genetic condition that they were concerned about, because it is just too rare. Any individual clinician cannot be expected to know about all rare conditions, but they can be empowered to understand how to handle such cases. The framework does not address in detail how it will increase awareness among healthcare professionals of rare diseases. It does not provide details of how education programmes will be delivered, nor does it explain in detail how success will be measured. What measurements will be put in place to ensure learning for healthcare professionals in the NHS? Will there be a survey of experience now and in the future, to demonstrate improvement? Will that be included in the English action plan?

When clinicians do not engage with an individual who has a rare condition in order to understand their diagnosis and ensure that care is compatible with their needs, it can and has led to life-threatening situations. One way to prevent such situations from occurring is by providing rare disease patients with alert cards, which include information about the patient’s rare disease and any particular aspects of the treatment of that rare disease that need to be taken into account in providing care. In January 2018, NHS England promised that all rare disease patients in England would have access to a rare disease alert card. May I request an update from the Minister on alert cards specifically? How many rare disease patients have been issued with an alert card?

The third priority of the framework is to improve co-ordination of care. Many patients have numerous professionals involved in their care and therefore it is essential that there be co-ordination and communication among healthcare professionals, their patient and the family. The framework does not address how care co-ordination can be mainstreamed within rare condition care in the NHS. There are no details as to how the challenges of ensuring continuity of care during the complex transition between rare condition services might be addressed. Again, how will success be measured? Will there be outcome measures demonstrating increased care co-ordination services in the NHS, and will there be a survey now and in the future to demonstrate improvement in the experience of people living with rare and genetic conditions?

The final priority of the framework is to improve access to specialist care, treatment and drugs. Only about 200 medicines are specifically available for rare conditions, and fewer than that are available on the NHS now. Small patient populations and accelerated market authorisation mean that rare disease medicines can rarely have sufficient evidence to meet the expectations of health technology assessors in the UK. Few life-saving treatments are reaching rare disease patients, which means not only that the UK is falling behind other European nations in terms of treatments available, but that patients and their families can be left in the dark, unsure of what is next.

We have extremely frustrating situations such as that faced by families affected by phenylketonuria, who, 12 years after marketing authorisation for the drug, are not receiving access to Kuvan, despite the Prime Minister’s promises to work on the issue and the treatment being available in 24 European countries. Again, the framework does not talk about how success will be measured. Will there be outcome measures demonstrating increased access to specialist care, treatments and medicines, and will there be a survey now? Will the Minister comment on that?

My final point is this. Understanding the experiences and preferences of people affected by rare conditions is fundamental to providing care and treatment and to ensuring that support, information and services are available and targeted to meet needs. The national conversation on rare diseases on which the UK rare diseases framework is based does not reflect the whole rare disease community. It is important that the English action plan is created in consultation with a more diverse and inclusive group, so that we can understand and meet the needs of all those affected by rare, genetic and undiagnosed conditions.

I want to finish by talking about something that happened yesterday. I want to mention Norman Clayton, who watched Prime Minister’s questions last week and heard me ask my question on access to Kuvan for those with PKU. Norman is 91 years old and was moved, after all these years, to contact NSPKU—the National Society for Phenylketonuria—and tell us about his daughter, Denise, who was born in 1958, before newborn screening, and whose PKU was diagnosed late. Despite the best efforts of Norman and his wife, Denise’s development suffered and she disappeared off the radar of the NHS. She still requires a huge amount of care, because her condition was not recognised from birth. That story speaks to so many rare diseases and to the need to get the implementation of this framework right.

[Mrs Maria Miller (in the Chair)]

We now move to a three-minute time limit, to help as many hon. Members as possible to participate.

--- Later in debate ---

[Liz Twist]

I thank the Minister and all hon. Members who took part in the debate. The diseases we have mentioned—motor neurone disease, muscular dystrophy, PKU, thalassaemia, neurofibromatosis and Batten disease —are all important, but there are so many more rare diseases that we could have mentioned. I look forward to the Minister’s detailed reply, and I will certainly circulate it to all those Members who have taken part today.

Question put and agreed to.

Resolved,

That this House has considered the implementation of the UK Rare Diseases Framework.

Health and Social Care Update

Liz Twist Excerpts

Thursday 18th March 2021 Commons Chamber

[Matt Hancock]

I would be very happy to ensure that the children of Bite Back 2030 meet the Minister for public health, my hon. Friend the Member for Bury St Edmunds (Jo Churchill), who leads on these matters, and my hon. Friend is right to raise that incredibly important point.

[Liz Twist (Blaydon) (Lab)]

Almost as soon as the Secretary of State sat down yesterday after his statement, I was contacted by a constituent who is shielding and is very concerned that shielding will now end on 31 March, but he has not had his second jab. Will the Secretary of State be issuing guidelines on what those people should do, as my constituent is asking?

[Matt Hancock]

Yes, absolutely, and we will be writing to all those who are shielding to set out the details so that they get a personal copy of those guidelines. What I would say is that the rates of covid now are much lower than when we paused shielding in the past, so this is not just because of the vaccination programme—which of course has benefited many people who are shielding, and we know that the first dose brings huge safety and benefit already—but is also because the rates of covid are so much lower.

Maternal Mental Health

Liz Twist Excerpts

Wednesday 10th March 2021 Westminster Hall

[Liz Twist (Blaydon) (Lab) [V]]

It is a pleasure to serve under your chairmanship, Sir Edward. I am glad to have the opportunity to take part in this important debate, and I begin by congratulating the hon. Member for Richmond Park (Sarah Olney) on securing it.

Most mums look forward to having a baby, and the birth of a child to family, friends and people we know is something that we all greet with joy, pleasure and anticipation for the future of the child. We know that for some women, however, pregnancy and the time after birth can, sadly, be difficult. They may not have been able to talk to people about it when everyone imagines that they are having a happy time. This year, it may have been more difficult than ever as a result of covid-19 and the social isolation that it has brought for so many. They have not had the support of, or been able to share the joy and workload with, family and friends, and it has been difficult to get the face-to-face support that they really need. Let us not forget that many have lost out on financial support that has been offered to others, as the campaigning organisation, Pregnant Then Screwed, has evidenced.

Low mood, anxiety and depression are common mental health problems that occur during pregnancy and in the year after childbirth. The pain that these conditions cause women and their families is significant, as is the negative impact on their health and wellbeing. The Royal College of Obstetricians and Gynaecologists states that up to one in five women develop mental health problems during pregnancy or in the first year after childbirth, and around a quarter of all maternal deaths between six weeks and a year after childbirth are related to mental health problems.

Sometimes, hearing in this House the lived experience of constituents really brings home the issues that we are discussing, and the need to address them. A constituent of mine has asked me to tell her story.

“In 2017 I became a Mum for the first time, I knew that I needed to provide for my child but I felt no more attachment than for someone I had just met. I started to Google ‘how to have my child adopted’ and felt like I was a failure as a woman.

I started to have panic attacks, I’d imagine walls falling on my child, people grabbing her and running away. I would lock myself in the house and was terrified to be alone.

It was when I started to record the times that the trains went past my house that realised that I was seriously contemplating suicide. I went to the GP who made an urgent mental health referral although it was five months after my child was born that I actually got any help…and…anything was done. I was diagnosed with severe post-natal depression and have been receiving help ever since.

When my second child arrived, I realised just how traumatic my first experience has been. The shame and anguish have been replaced by joy and love, and I was finally able to have those special moments with the newborn that people romanticise.”

Since that time, the local Newcastle Gateshead clinical commissioning group has invested in a specialist perinatal mental health service. That provides support, advice and planning of care and treatment following delivery, reducing the risk of significant illness and the potential for in-patient care. However, many women are not seeking the help they need, and the pandemic has had a huge impact on loneliness, making those early days so difficult.

This is an important debate and we must do much more to support women struggling with their mental health, before and after the birth of their child, to allow parenthood to be the joyful, if challenging and tiring, experience that it should be.

Covid-19: Government’s Publication of Contracts

Liz Twist Excerpts

Tuesday 9th March 2021 Commons Chamber

[Edward Argar]

I lost a few words of the hon. Lady’s question, but I think I know what she was asking about in respect of the Prime Minister’s remarks on 22 February. May I start by saying that her kind words at the start of her contribution are reciprocated? I have known her since I came to this House and I have the highest regard for her as well; so I am grateful for her kind words.

In terms of the specifics the hon. Lady asked about in respect of the Court judgment and the Prime Minister, as I understand it on the date the Prime Minister spoke 100% of the contract awards notices—the details of the contracts are contained within them—were published, and that, I believe, is what my right hon. Friend was referring to.

[Liz Twist (Blaydon) (Lab) [V]]

Our NHS staff have made huge sacrifices during this pandemic and done all they can to support patients and their families, and now they are delivering a successful roll-out of the vaccine. Does the Minister think it is fair for millions, in some cases billions, of pounds to be spent on contracts that do not deliver but to deny those same NHS staff the decent pay rise they need and deserve?

[Edward Argar]

I am grateful for the hon. Lady’s question. She is right to highlight the amazing work being done in the roll-out of the vaccine by our frontline health and social care workers, and indeed many others, and I join her in paying tribute to them. What is important is that we worked flat out, as did senior officials, to make sure that the NHS and the frontline got what they needed last year: PPE to help keep them safe. I have to say to the hon. Lady that I hear the point she makes, but I make no apology for the efforts made by the Government to get the PPE in the quantities needed to keep our front- line safe.

Covid Contracts: Judicial Review

Liz Twist Excerpts

Wednesday 24th February 2021 Commons Chamber

[Edward Argar]

I suspect I can do no better than to quote the judgment, which stated that in respect of regulation 50 the Government “acted unlawfully”, but my hon. Friend is right to highlight the fact that—again, as the judgment set out—the Secretary of State is almost at complete compliance, which is exactly what the Government are committed to.

[Liz Twist (Blaydon) (Lab) [V]]

The Government claim that this is just a case of a few PPE contracts being published a couple of weeks late, but in fact we know that hundreds of millions of pounds-worth of contracts also went to management consultants. Will the Minister confirm whether all the contracts for which the publishing deadline was missed, from the start of the pandemic until now, were in fact for PPE, or did they also include contracts that have gone to private consultants? Will he explain why those contracts were not published on time?

[Edward Argar]

My understanding is that this data relates to all contracts by the Department. If I am inaccurate in that, I will of course correct the record for the House, but my understanding is that this data refers to all contracts by the Department itself.

Oral Answers to Questions

Liz Twist Excerpts

Tuesday 23rd February 2021 Commons Chamber

[Helen Whately]

Last autumn’s spending review included £1 billion of funding to address backlogs, tackle long waiting lists and support up to 1 million extra checks, scans and additional operations in the NHS. As the NHS recovers, for liver care, as for other areas of treatment, we will look to not only recover backlogs but continue to improve the care provided and help people to live healthier lives to prevent illness in the first place.

[Liz Twist (Blaydon) (Lab)]

If he will make a statement on his departmental responsibilities.

[The Secretary of State for Health and Social Care (Matt Hancock)]

Yesterday, the Government published the road map that will put us cautiously but, we hope, irreversibly on the path towards reclaiming our freedoms once more. We are able to take these steps because of the resolve of people across the UK and the extraordinary success in vaccinating more than 17.7 million people—one in every three adults across the UK—and I would like to pay tribute to everyone who has played their part.

[Liz Twist [V]]

This coming Sunday is Rare Disease Day 2021. One in 17 people in the UK will be affected by a rare disease, and today people with PKU—phenylketonuria—are awaiting the outcome of a NICE appraisal of Kuvan, but 12 years waiting for Kuvan or other treatments is too long. Does the Secretary of State agree that our rare disease community deserves access to early diagnosis and treatment, and what will he do to make sure that this happens?

Covid-19 Vaccine Update

Liz Twist Excerpts

Thursday 4th February 2021 Commons Chamber

[Nadhim Zahawi]

I add my thanks to those of my hon. Friend for the relentless determination of her excellent local PCNs to vaccinate the most vulnerable. I would be very happy to meet colleagues to go through in detail the plan up to mid-February, which is our target, and beyond. I am also happy to take away her PCNs’ specific concern about data sharing. Our mantra in the team is to make as much data available as quickly as possible, when we know that it is robust and actionable, so we will look at her point about Foundry and Outcomes4Health to ensure that we can share that. I want to get to a stage where every PCN can track its order, in the way we track an order from Amazon. We have reached basecamp, but we have a big climb ahead of us to vaccinate the whole nation.

[Liz Twist (Blaydon) (Lab) [V]]

May I start by thanking all the staff in our primary care networks and in our NHS for the magnificent work they have done to ensure that as many people in the priority groups in the north-east are vaccinated? In any call and recall system for vaccines, some people will inevitably be missed, so when will directors of public health get the data they need, in sufficient detail, to be able to address those inequalities and contact those who have not responded?

[Nadhim Zahawi]

I am grateful to the hon. Lady for that incredibly important question. Her region has done phenomenally well. I want to praise it because it has 91.8% of first doses for the over-80s in the STP. The NHS is already sharing data with local government. We need to make it more granular. We have brought into the deployment campaign Eleanor Kelly, the former chief executive of Southwark Council, so we are totally in line and integrated with local government, because they know exactly where those hard-to-reach groups are. The hon. Lady raises an incredibly important point and that is a big focus for me.

Covid-19 Update

Liz Twist Excerpts

Tuesday 2nd February 2021 Commons Chamber

[Matt Hancock]

Yes. Across England, we have set the goal of having a vaccination centre within 10 miles of where anybody lives. It is harder in more rural parts, such as my hon. Friend’s constituency, of course. We are absolutely willing to support the Welsh NHS in delivery locally. In fact, the British armed services are involved in support of the roll-out across Wales, as they are in England. I am happy to meet my hon. Friend to discuss what more we can do to ensure that people can get the vaccination as easily and closely as possible in her sparse and very beautiful constituency.

[Liz Twist (Blaydon) (Lab) [V]]

A new research paper published today by Newcastle University demonstrates the link between poor mental health and welfare support, and this pandemic has particularly tested the mental health of so many of us. Will the Secretary of State urge the Chancellor of the Exchequer to keep the £20 universal credit top-up after March and to extend it to those on legacy benefits so that the mental health of those on benefits is not even more affected?

[Matt Hancock]

I will take those representations to my Cabinet colleagues, as I know that they are working hard to ensure that everybody gets the support they need.

Public Health

Liz Twist Excerpts

Wednesday 6th January 2021 Commons Chamber

[Liz Twist (Blaydon) (Lab) [V]]

As we have just heard from the hon. Member for Rushcliffe (Ruth Edwards), lockdown does indeed take its toll on us all, but it affects some people more than others. It shifts huge risk to key workers in social care, the food and retail sector and, of course, the NHS, and to those living in deprived areas, overcrowded housing or poverty. If we do not provide additional support to key workers and disadvantaged communities, transmission will continue and we will not make the most effective use of this lockdown.

We must make it easier for people to do the right thing and stay at home, so we need to raise statutory sick pay to a level that covers the cost of living and makes it possible for people to stay at home and keep themselves, their families and others safe. Many thousands of staff working for private contractors in the NHS, such as cleaners, porters and caterers, are currently only entitled to receive SSP in case of illness. The Government must commit to supporting these vital NHS workers to stay at home, protect the NHS, and continue to save lives. Those working in social care take care of some of the most vulnerable in our society. They too must be able to isolate when they are ill in order to prevent spread of the virus, and must be properly funded to do so. Too many people are excluded from the current self-isolation payment. Too many low-paid people are not eligible because they are not low-paid enough, but the loss of one income in a family, even for 10 days of self-isolation, can really undermine a family’s economic stability and may even lead some to just keep quiet about being unwell.

Vaccines are the way out of this terrible situation, but we have to make sure that, unlike the virus, which has had a disproportionate effect on the poorest and our most vulnerable, our vaccine strategy is fair and equitable. Vaccine programmes, when delivered through a call system, do not have an equal uptake across socioeconomic groups, often leaving behind the most vulnerable and disadvantaged communities, so it is crucial that the strategy takes this into account by monitoring uptake and engaging with those groups.

We know that covid-19 does not hit us all in the same way, and we know the devastating impact of poverty on children. The recent covid-19 Marmot review found that the pandemic has already widened, and continues to widen, existing quality. The Government must therefore continue the universal credit and working tax credit uplift of £20 per week, commit to ending the benefit cap, and extend the free school meals entitlement to those whose families receive universal credit or have no recourse to public funds. This lockdown is necessary but it is hard.

Covid-19 Update

Liz Twist Excerpts

Thursday 17th December 2020 Commons Chamber

[Matt Hancock]

Yes on both counts. We looked at Leicestershire in great detail and I wish that we could have taken the county and the city out of tier 3. Unfortunately the data did not support that conclusion. I am grateful to everybody across Leicestershire, because I know that this has been a long, hard slog with measures in place for a long time.

[Liz Twist (Blaydon) (Lab)]

I start by thanking the people of my constituency and across Gateshead who have worked really hard to get the figure down. Professor Michael Marmot’s covid-19 review, which was published this week, shows that the pandemic has exposed long-standing health inequalities, particularly in the north. Public health teams play a vital part in this pandemic and are core to addressing those longer-term health inequalities. What has the Secretary of State done to ensure that public health teams are properly funded so that they can address those inequities and, as Professor Marmot says, “build back fairer”?

[Matt Hancock]

We are absolutely determined to build back better. That needs to involve tackling long-term underlying health inequalities. A huge programme of work will be needed to do that, after the pandemic has demonstrated those inequalities.

People in Gateshead have done a great job of getting the case rate down. Like other areas, it is still in tier 3—we are not quite there yet. I know that my team and the hon. Lady’s local director of public health have been talking about getting Gateshead and the rest of the north-east into tier 2 when we can. I hope that we can do that, but for now, let us be cautious and keep this under control.