Meeting of the Parliament

Meeting date: Wednesday, May 17, 2017

Official Report 1003KB pdf

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Neurofibromatosis Awareness Day

Now, after a rather febrile afternoon, we have a calm and sensible debate. Thank goodness.

The next item of business is a members’ business debate on motion S5M-04137, in the name of Ash Denham, on neurofibromatosis awareness day. The debate will be concluded without any question being put.

We have a large number of people in the public gallery. I am delighted to see you, but I say in advance that it is not permitted to applaud from the gallery no matter how much you want to do it, so please desist.

Motion debated,

That the Parliament appreciates that 17 May 2017 is Neurofibromatosis Awareness Day; notes that neurofibromatosis (NF) is a genetic disorder that causes tumours to grow on the nerves and that tumours can develop anywhere in the nervous system, including the brain, spinal cord and nerves; further notes that there is no known cure for the condition, which people are born with due to a genetic mutation; recognises that, while 1 in 3,000 people are currently diagnosed with the condition, many go undiagnosed due to a lack of awareness; considers that, despite NF being one of the most common genetic disorders, people, including many parents, often find themselves telling GPs what their condition or that of their children is; notes that NF is a progressive condition and can cause a variety of problems, including physical and learning difficulties and mental health issues, and is also linked to autism; appreciates that people have concerns that, due to lack of awareness, those affected may not receive the correct treatment in time, and notes hopes that across all UK NHS boards, including NHS Lothian, NF patients will receive regular routine monitoring by specialists, in memory of the incredibly determined, Beth Beattie, who sadly passed away on 4 November 2016, aged four-years-old.

17:15  

I extend my thanks to all the members of the Scottish Parliament who have joined me today in recognising world neurofibromatosis—or Nf—awareness day. I begin by paying tribute to Beth Beattie, who sadly passed away on 4 November last year at just four years old. I draw members’ attention to the fact that Beth’s parents, Roger and Eva, are here in the gallery, as are representatives from the Neuro Foundation and the Scottish children’s charity Funny Lumps.

What we say today, we say in honour of Beth. It is my hope that, by shedding light on this genetic condition, each of us can help to raise awareness, ensure that diagnoses are made early and direct people to resources for what can be a devastating disease. I hope that, by remembering Beth and how hard she fought, we will help to set a better path forward for the nearly 30,000 people in the United Kingdom who are affected by Nf.

Many of us will have heard of Huntington’s disease, cystic fibrosis and muscular dystrophy but not Nf, yet 2.5 million people worldwide are impacted by Nf, making it more prevalent than those conditions combined. Too many people remain unaware of what Nf is and what it entails. To put it simply, Nf is a gene mutation that can develop spontaneously or be inherited. It causes tumours to grow in the nerve tissue throughout the body, and it comes in three forms: Nf1 is a mutation on chromosome 17; Nf2 is a mutation on chromosome 22; and there is a very rare condition called Schwannomatosis—I apologise if I did not pronounce that correctly. The conditions allow for uncontrollable cell growth, and people of any age can suffer from Nf, with complications developing at any stage of life.

In bringing awareness to the disease today, I feel that it is important to point out the signs of Nf, so that individuals and medical professionals alike can be vigilant and recognise it. Signs of Nf1 are apparent at birth or shortly after and include six or more flat, light-brown spots on the skin, which are often called cafe au lait spots; clustered freckles in skin folds; tiny bumps on the iris of the eye and soft bumps on or under the skin; and/or bone deformities. Signs of Nf2, which is much less common, include gradual hearing loss, ringing in the ears, poor balance and headaches.

The severity of Nf varies for each person, but for many the struggle is physical, mental and emotional. For example, a young boy or girl with Nf1 may face challenges in school. For the majority of children with the disease, reading, writing, maths or even just staying focused in the classroom can be difficult. They might have trouble processing information and then communicating what they have learned. For these kids, putting things in order and making sense of words can be extremely difficult, and when they are called on to answer a specific question, they might freeze up. Similar tendencies can occur for adults with Nf in the workplace.

Getting through a class or the work day with Nf is hard in and of itself, but that difficulty is increased tenfold if a child’s teachers or classmates, or an adult’s workplace supervisors, are not familiar with the disease. When children with Nf are misunderstood, they can feel confused, anxious and frustrated, and their performance in the classroom may suffer. As such, it is important for teachers to be aware that as many as 66 per cent of children with Nf will have some form of learning problem and one in four will display autistic tendencies.

Nf also comes with numerous physical complications. Skin lumps and disfiguring tumours can grow all over the body including on the optical nerves, which can impact on sight, and on the curvature of the spine. Scoliosis, epilepsy, malformation of long bones and brain and spine tumours are all possible. Women have a fourfold risk of breast cancer, and children who are affected have higher instances of brain cancer. Those physical ailments are often compounded by feelings of embarrassment or insecurity due to the visible lumps and bumps on the body.

As yet, there is no cure for Nf, which is why we should support organisations such as the Neuro Foundation, a charity that works directly with families experiencing Nf. It funds the Neuro Foundation specialist network, which is a small group of hospital-based professionals who provide care and guidance for those who are diagnosed with Nf. I encourage anyone who is looking for a resource on Nf to visit the Neuro Foundation’s website at nfauk.org.

The charity Funny Lumps works specifically to support children with Nf and their families. Family-centric support is especially important since Nf is genetic. If someone or their partner has Nf, there is a 50 per cent chance that their child will develop Nf as well. Imagine being a parent and trying to explain your and your child’s symptoms to those who know little about Nf while facing the learning and communication barriers that I described earlier. That can make it very difficult to talk through education or healthcare options.

Funny Lumps states:

“every child with Nf is different, and ... we believe that each child should have a tailored prescription of information to assist the teachers in helping the child achieve their full potential.”

Funny Lumps also holds events for families and children with Nf to meet, connect, talk about their experiences and support one another. Members can learn more from its website, which is at funnylumps.org. Representatives of the Neuro Foundation and Funny Lumps are here today, so I encourage anybody who wants more information to join us in room Q1.03 after the debate.

Truly, one of the greatest challenges of Nf is the uncertainty of the disease coupled with a lack of public awareness. I have seen that myself, as one of my staff members has an eight-year-old son with Nf. She has often had to deal with medical professionals who have never even heard of the condition. A constituent of mine, Shirley Stanners, wrote to me and told me about her son Thomas, who has Nf and who has gone through three major surgeries. A lack of full understanding from the family’s general practitioner has been a bit of a barrier, particularly when Thomas needed to be cleared to go back to work after he was medically discharged from his apprenticeship.

Because of a lack of awareness, children and individuals with Nf may not be properly diagnosed and children and families may not get the proper resources and support that they need. That is why today’s debate highlighting world Nf awareness day is so critical. Awareness is a core solution to effective support for those who have Nf. If each of us simply listens, learns and passes on what we know, that will help.

I am grateful to my fellow members of the Scottish Parliament who will speak today and so help to bring much-needed awareness of Nf.

17:23  

I thank Ash Denham for lodging the motion and for securing parliamentary time on an issue that undoubtedly deserves the increased awareness that is offered by the debate. I also thank her for explaining in detail exactly what Nf is and how it manifests itself.

Neurofibromatosis affects one in 2,500 people, which means that more than 2,000 people here in Scotland are affected. It is an unpredictable and variable condition that is caused by mutation in one gene. As a progressive multisystem condition, it impacts on many areas of a sufferer’s life—not just their health. In that respect, over 60 per cent of patients with Nf1 will have learning difficulties and may struggle at school, especially as awareness of the illness is comparatively low.

Nf is one of the most common genetic disorders, but it remains relatively unknown even among the medical profession, with sufferers often having to explain their condition to general practitioners. Because of that lack of awareness, there is concern that people who are affected may not receive the correct treatment as soon as they ought to. That is, of course, true of four-year-old Beth Beattie, whom Ash Denham mentioned and who sadly passed away on 4 November 2016 due to brain tumours that had been caused by the condition. As Ash Denham said, Beth’s friends and family, including her parents, Roger and Eva, are present today. I offer my sincere condolences to them and will do my utmost to do their daughter’s story justice.

In the first 10 months of Beth’s life, doctors failed four times to diagnose Nf1. Due to the condition’s unpredictability, there is very little research into how severely the condition can present itself. In addition, in Beth’s case there was no family history of Nf, which meant that there had been a spontaneous mutation. It is understandable that her parents had never heard of the condition prior to the eventual diagnosis, when Beth was 10 months old. About half the people who suffer from Nf have, like Beth, no family history of the condition, so it occurs out of the blue, with no one else in the family being affected. That increases the likelihood of the condition not being diagnosed.

Despite her condition, Beth’s six-monthly visits to a paediatrician remained relatively positive. However, after a trip to accident and emergency in November 2015, she had a magnetic resonance imaging scan. An MRI scan had previously been deemed unnecessary, given the lack of physical symptoms. The scan revealed two large brain tumours. I will quote Beth’s parents directly; they said:

“Devastated doesn’t cover it. Heartbroken doesn’t touch the physical pain you feel when you receive news like this.”

Indeed, I doubt that there are any words that can accurately describe such feelings. Despite four operations, a routine MRI scan later revealed that the tumours were growing, and doctors gave Beth just weeks to live. After a long and brave battle, Beth passed away at home, seven months later. She was only four years old. As her parents rightly said, “This should not be.”

In many cases, that is the harsh reality of Nf. When we discuss such conditions it is all too easy to focus on facts and figures. It is important that we remember that behind each figure is a face—a personal account of someone who is suffering from Nf, with a support system of family and friends, who are also feeling the effects of the unpredictable condition.

It is therefore of the utmost importance that we raise awareness of the condition, if we are to foster hope in the Nf community, not only for sufferers but for the families and carers who provide support. A group of dedicated volunteers who have been fundraising in Beth Beattie’s name are doing just that. They call themselves team Beth and they keep her spirit alive in one of the best ways possible—by helping others. Earlier this year, I was delighted to present, along with team Beth, a cheque for £13,300 to Memories are Better than Dreams, which is a charity that aims to fulfil the end-of-life wishes of children and their families in Ayrshire, and supports families who have lost a child. Team Beth are continuing their fundraising efforts; the current total on their mydonate.bt.com page is more than £16,500 and counting.

Although as yet there is no known cure for Nf, as people are born with it due to a genetic mutation, that does not mean that nothing can be done to aid those who suffer from the condition. Before her eventual diagnosis, Beth was seen by numerous medical professionals who failed to identify Nf. I hope that this debate promotes increased awareness among medical professionals and the public alike. Beth’s story of a repeatedly missed Nf1 diagnosis is all too common.

However, awareness alone is not enough to save a life. We must also call for regular MRI scans to be offered to everyone who lives with Nf. Only a scan would potentially have given Beth a greater chance of survival. In addition, access to the specialist centres in Manchester and London that deal with Nf is increasingly difficult to obtain. Although charities such as the Neuro Foundation seek to extend an Nf support network, there is no such United Kingdom-wide network.

We should honour the memory of the incredibly determined Beth Beattie and many others like her who have struggled with Nf, and we should honour those who continue to struggle with the condition. I call for patients to receive regular routine monitoring by specialists. We cannot afford to overlook this condition and its devastating impact.

17:28  

I thank Ash Denham for bringing this debate on a condition that very few people know about, as her motion says.

I certainly fall into the category of people who do not know about the condition—or, rather, I did before the debate. I have learned that it is estimated that around 1 in 3,000 people have been diagnosed with the Nf1 variant and that many people remain undiagnosed, so the number of people with the condition might be greater. I have learned that the Nf2 variant is less prevalent and that the rarest variant, Schwannomatosis, affects about 1 in 40,000 people. I also discovered that the Neuro Foundation estimates that around 2.5 million people worldwide have a form of Nf. That is a significant number.

As members have said, lack of knowledge of the condition is an issue for medical professionals. As the motion acknowledges, people who suffer from a form of Nf or have children with the condition often find themselves having to explain the condition to their GP. I do not want to criticise GPs, given the important and difficult job that they do. However, it is important for our medical professionals to be aware of such conditions, particularly their early signs and symptoms, so that they can provide swifter treatment and improved quality of life for the patient.

That is why a debate such as this is so critical; it is one way in which Parliament can act for the greater good of the country. By discussing Nf in the chamber and, I hope, in the media, we can raise its profile among the public and within the medical professions, Government and health policy organisations. One of the most important aspects of the debate is that by highlighting the condition in its varying forms we can urge health boards to ensure that all medical professionals be made aware of the symptoms. Ash Denham’s speech gave some of those details.

Raising awareness of the different organisations that offer support and advice to people with the condition and their families is also fundamentally important. I, too, pay tribute to the Neuro Foundation, which enables

“people concerned about neurofibromatosis to find solutions appropriate to them”

and, importantly, facilitates research. Its “New Friends Wall” webpage is a superb tool for people who live with the condition and their relatives and friends to share experiences and meet others with Nf.

Looking closer to home, I pay tribute to the Scottish charity Funny Lumps, which supports children with neurofibromatosis and their families. Its engaging approach to the condition is particularly remarkable; it offers home visits to support families and school visits to support teachers who have in their classroom a child who suffers from the various side effects of the condition. It also hosts family events that allow children with the condition to meet one another. Those events are fundamentally important not only as social opportunities but because they let children with the condition know that they are not alone or unique.

One aspect of the motion that I have not yet touched on, but would like to close with, is mention of Beth Beattie—the brave young child from Ayr who was one of the children who lived with a form of Nf. I was very saddened to hear that she passed away last November, so I add my condolences to those that have already been offered. It is testament to her short life that more than £13,000 has been raised for charity by her family and many volunteers. I also acknowledge the work of Kenny Gibson for his role in promoting the fundraising. Beth’s memory should not be forgotten—in fact, it should remind us that there are hundreds of people in Scotland living with a form of Nf and many others who remain undiagnosed. The challenge is to raise awareness, so I hope that today’s debate will help to achieve that.

17:32  

I echo the comments of others in congratulating and thanking Ash Denham for lodging the motion about neurofibromatosis awareness day and also securing the debate on awareness day itself.

I have reflected on Ash Denham’s opening comments and Kenny Gibson’s very moving reflections. At the weekend, like most members, I was back in my constituency with my family. I spent part of the time at home planning a party for a few weeks’ time to celebrate the birthday of one of my two daughters, Hannah. She has decided that she wants to have her party at Drummuir Farm Ice Cream—I do not know what the attraction is of a farm that produces hundreds of different types of ice cream. On her birthday, Hannah will be four years old, the same age as little Beth when she passed away in November last year. I cannot begin to imagine how devastating and heartbreaking that must have been for Beth’s parents. To lose your little girl at such a young age is unimaginable, and I add my condolences to those of others today.

When we listen to Kenny Gibson’s comments and we read the local newspapers in Ayrshire, I suspect that, through the heartbreak and devastation, there must also be a lot of pride for Beth’s parents when they see the amazing fundraising that Beth has inspired. Such fundraising not only raises badly needed funds for good causes, it raises awareness of Nf, which is incredibly important.

Until recently, I was largely unaware of Nf. Prior to being elected to Parliament, I worked for a charity called Parkinson’s UK and had come across reports asking whether there were links between different neurological conditions, including Nf and Parkinson’s, but I was unaware until this week that Nf is one of the world’s most common neurogenetic conditions. Nf1 affects one in every 25,000 people worldwide, including around 2,500 in the UK, and Nf2—although less common—affects one in every 30,000 people worldwide, with more than 1,000 people affected in the UK. I also was not aware of the different ways by which Nf1 manifests itself, with tumours that grow on the nerves inside the body and on the skin often leading to severe disability, pain, itching, cancers, epilepsy, high blood pressure, bone abnormalities, speech and language problems, dyspraxia, learning and behavioural difficulties and mental health issues.

The problem with a lack of awareness is that it leads to a lack of understanding not just among the public but among health, education and public service professionals—the very people who need to know how to respond to those with the condition who require help and support. As Ash Denham’s motion highlights, that can mean people going undiagnosed until many of the disadvantages of the condition have become entrenched. If people are not diagnosed until after they become parents, they may have unwittingly passed the condition on. I hope that, in replying to today’s debate, the minister will inform members how the Government thinks it can raise awareness of Nf among our healthcare professionals.

I also hope that the minister will outline the Government’s thoughts on one suggested solution to the problem of diagnosis—the use of the personal child health record, the so-called red book, which, as members will know, is the national standard health and development record that is given to parents at a child’s birth. Parents retain the red book and health professionals update the record each time the child is seen in a healthcare setting. I am sure that adding checks relating to birthmarks to the content of the record and providing appropriate awareness to healthcare professionals would help when it comes to diagnosing Nf more accurately at an earlier age. I therefore hope that the minister will lend her support to that suggestion.

I hope that the minister will also respond to the call—which has been made by Kenny Gibson and others—for a centre of excellence in Scotland. Although there are two fantastic specialist centres in England—in Manchester and at Guy’s and St Thomas’s—there is none in Scotland, and there have understandably been calls for a specialist Nf clinic to be established here, in Edinburgh.

Although, like other members, I have used my short speech to highlight the lack of awareness of the condition, I will end by paying tribute to the doctors, nurses and other clinicians in our NHS who play a critical role in providing help to patients who are affected by the condition. I also pay tribute to the work of the organisation that Ash Denham mentioned, the Neuro Foundation, and Funny Lumps, which are two small charities that are punching above their weight when it comes to championing the cause of people with Nf. I pay tribute to the families and carers of those with Nf, who are truly dedicated to supporting their loved ones. Most important, however, I pay tribute to all those who live with, or who have lived with, the condition and have borne it with bravery. I am sure that, as a result of today’s debate, we are all a bit more aware of their cause.

17:37  

I have no doubt that there is pretty much nothing that I can say in the chamber that will ease the pain of losing a child. Parliaments often get caught up in the sheer politics of it all—today was a good example of that—but we are brought back down to earth by real-life stories that cross our path. In one of the most difficult surgeries that I have held in my one year as an MSP, I sat and heard Beth Beattie’s story through the words of her mum, Eva. I am here today primarily because of Beth. A lack of knowledge of the condition contributed to the fact that it took 10 months for Beth to receive a full and proper diagnosis. Opportunities were missed and time was lost. I echo the condolences that were offered to her family by Kenny Gibson, but I do so in the hope that, out of this tragedy, some positive actions can come.

We are here to debate and raise awareness of the disease so that those who are watching in the gallery or at home know that we are taking it seriously. We will all be aware of the complications that neuro conditions can bring. As for any condition, the quicker the diagnosis, the better the patient’s chances of receiving the correct treatment. The problem is that the symptoms of Nf are not always obvious, and that can be a challenge for doctors and nurses, who might diagnose them as the symptoms of something else.

However, today is not about laying blame in any way; it is about raising awareness. I am thankful to Ash Denham for lodging the motion, which highlights the fact that parents often find themselves in the position of telling their GPs what the condition is despite it being the world’s most common neurogenetic condition, as Colin Smyth pointed out. Neurogenetic conditions typically require specialist medical training but, with more common conditions such as Nf, we need to consider how we can better educate medical practitioners about the simple, everyday signs to look out for. After all, they are the front line in diagnosis.

I will reiterate three simple observations that arise from the debate. First, why is Nf not included in the so-called red book, or personal child health record, which is used to keep a record of a child’s health details and includes information about, for example, growth patterns, routine reviews and immunisations? Having something as simple as a list of the possible causes of symptoms in the red book could go a long way to reaching a diagnosis sooner rather than later. Secondly, It is worth reiterating that, although there are two Nf centres in England—in Manchester and in London—there is no dedicated centre in Scotland. The charity Funny Lumps has suggested that, rather than children under 16 having to be seen by medics who might have little or no knowledge of their condition, it might make more sense to have a Scotland-wide Nf clinic. There is food for thought in that suggestion.

My third observation is on research. Many millions are spent on research into more well-known diseases, but so much more can be done on Nf. The aim of organisations such as the Neuro Foundation is to support and promote medical research, but that is just the tip of the iceberg. What additional focus can we place on research?

Unfortunately for Beth, her condition was discovered late and her story is one of the most severe that the Nf community has encountered. However, there are many others in Scotland and across the UK for whom we can make a difference. Many of them will not know that they have Nf and many sufferers of Nf will not even have been born yet.

Again, I thank Ash Denham for bringing the debate to the chamber and I also thank her parliamentary aide, Abigail Lawson, who has worked tirelessly to co-ordinate the debate, provide briefings and get enough cross-party support to allow us to have this discussion. I wish team Beth the very best in its fundraising efforts, and I might be persuaded to walk over hot coals in the forthcoming fundraiser—I will do it if Kenneth Gibson does it.

I have already said that I will.

Okay—that is agreed, then. However, I am sure that I will find an excuse between now and then not to do it.

I hope that the Scottish Government will reflect on many of the comments made in the debate and from that formulate some action plans, so that we can increase awareness of the important issue of Nf.

Neither you nor Mr Gibson can back out now, because we have many witnesses to your promising to do it and it will also be in the Official Report, so I look forward to seeing the video.

17:42  

I am happy, like other members, to take part in this debate and to close for the Government. Again like other members, I offer my condolences to the family of Beth Beattie, who was clearly a very brave little girl who had a very difficult fight in her too-short life. I commend her parents, Roger and Eva, for their tireless fundraising work for Memories are Better than Dreams, a charity that helps families make special memories with their children towards the end of their life.

As a mother of two wee boys, I cannot imagine, like Colin Smyth, the pain of seeing your wee one going through so much. I put on record how inspiring Roger and Eva are and how brave and courageous they are in sharing the experience that they have gone through. To honour wee Beth, we as a Parliament must resolve to ascertain where we can make improvements. As Kenny Gibson rightly stated, behind every figure and statistic in this area there are people and their experiences of pain, suffering and grief. We need to make the situation better and make improvements where we can.

I commend Ash Denham for bringing the debate forward, especially as today is neurofibromatosis awareness day, and I am incredibly encouraged to see so many people across the Parliament showing their support. The Scottish Government continues to be supportive of the charities that do so much important work to raise awareness of the rare disease of neurofibromatosis. Funny Lumps and other organisations have been mentioned in the debate, and their innovative work is greatly appreciated by the Scottish Government.

Ash Denham is right to seek to raise awareness of Nf and to outline the condition’s physical impact and emotional and mental impact, whether for a young child struggling at school or an adolescent coping with how the condition makes them look. We must ensure that the structures that we have in place kick in, to ensure that families feel supported and that our national getting it right for every child approach to children’s services is true for children who have Nf.

Our health and social care delivery plan, which was published in December last year, sets out our aim to provide high-quality services for Scotland and includes a focus on early intervention and supported self-management. Alongside that, our approach to personalised care was outlined by the chief medical officer in her report “Realising Realistic Medicine”. The approaches that we take to ensure that people feel empowered and supported must work for those with Nf, and we need to ensure that awareness is raised and that appropriate and timely intervention happens when it is most needed.

The Scottish Government published the rare disease implementation plan, “It’s Not Rare to Have a Rare Disease”, to deliver commitments in response to the UK rare disease strategy. The plan aims to improve diagnosis and access to co-ordinated service provision and to facilitate work with research communities.

More specifically in relation to Nf, the NHS National Services Scotland division—NSD—commissions access to specialist services through service agreements with NHS England. Accordingly, there is free access to specialist treatment for all residents of Scotland with complex Nf1. However, not all people who are diagnosed with Nf1 require highly specialised care. In Scotland, genetics services make the diagnosis of Nf, provide the patient with information and make arrangements for follow-up and on-going management. The need for annual follow-up and information about what is required and who to contact with queries is recorded in a letter to the patient’s GP, as well as in correspondence to the patient.

We recognise that a young person living day to day with neurofibromatosis needs support outwith the highly specialised services, and I understand that periodic genetic reviews are offered so that any issues—including education issues—can be recognised and addressed. At every stage, clinicians in primary and secondary care are also made aware that if they or the patient have any concerns, they can request a genetic review.

Awareness raising about the condition is very important so that our medical professionals, particularly general practitioners and others with a general knowledge of healthcare, have a heightened awareness of Nf. Taking cognisance of everybody’s views and contributions this evening, we recognise that that awareness raising needs to be felt more keenly and we will look to see where improvements can be made.

In relation to Nf2, genetic testing for Scottish patients is available from the Sheffield diagnostic genetics service. NSD has an agreement with NHS England that enables access to the specialist Nf2 service for clinicians and patients, and the clinic can advise on disease management and treatment options. Additionally, NHS Greater Glasgow and Clyde hosts a specialist Nf2 clinic. The clinical team is interested in providing a nationally designated service for Scotland, the feasibility of which is currently being considered by NSD with the help of the managed service network for neurosurgery. The hope is to form a patient pathway to improve access to specialist support and co-ordination of care for that group of patients. We will ensure that NSD has a close understanding of the issues that members have raised and that their contributions feed into NSD’s considerations.

Members have raised the issue of research, and research into rare diseases is vital to learning more about them, including how they occur, how to diagnose them and how to treat them effectively and correctly. It also helps with the awareness raising that our medical professionals require. Through research, we also learn people’s views on how they want to manage their disease and where they want to do that.

On rare disease day, the Cabinet Secretary for Health and Sport announced the launch of the rare disease genomics study by the Scottish genomes partnership in collaboration with Genomics England. The study will offer more than 300 people with rare, genetic or difficult-to-diagnose diseases—and their close family members—the opportunity to have their entire genetic code sequenced. The study, along with other on-going work, is a significant milestone in achieving quicker diagnoses for people. That important work is the key to ensuring that we deliver the best possible care and support for people with rare diseases, including Nf.

The European Commission is required to support member states in the development of European reference networks. The purpose of ERNs is to provide better access for patients to highly specialised care and to improve and to pool knowledge for clinicians, which will aid diagnosis and care in an area in which expertise is rare. Such collaboration will enhance the adoption of innovations in medical services and health technologies and will enable the sharing of knowledge in the UK and across Europe as a whole. It will help to enhance our knowledge of how conditions such as Nf manifest themselves and how we respond to that knowledge. The European Union has approved 24 ERNs covering areas such as rare bone disorders, paediatric cancers and genetically inherited conditions. Seven hospitals in Scotland and 102 in the rest of the UK will be participating directly in those networks.

On calls for more routine MRI scans, we will follow up on specific matters with members. Our understanding is that because this type of condition can manifest itself in different ways and, therefore, different investigations or treatment options may be appropriate for different patients, the decision to undertake an MRI scan is one for the clinicians involved, based on the needs of the patient. We will take on board the points that have been made, but clinical decision making is so important. We need to make sure that the understanding and knowledge of the condition are much more visible and keenly felt, so that we have the right support at the right time.

Beth’s story, her bravery, which has inspired the raising of so much money, and the great joy that she brought in her four short years are the inspiration that we will all use to ensure that there is greater awareness and understanding of the condition. We will continue to explore ways in which we can make the difference that I am sure Beth’s parents want us to make and which will honour Beth’s memory as well.

I thank Ash Denham for bringing the debate to the Parliament, the members who contributed to it and those in the public gallery, whose support is clearly felt. We will continue to work with everyone to make the difference that we all want.

Meeting closed at 17:51.