Edwards Syndrome
The first item of business this afternoon is a debate on motion S4M-04354, in the name of Richard Baker, on Edwards syndrome and support for babies with palliative care needs. The debate will be concluded without any question being put.
Motion debated,
That the Parliament considers that there is a need to support families in Scotland affected by Edwards syndrome; notes the establishment in Aberdeen of the Caoimhe’s Trust for Edwards Syndrome; understands that the majority of babies with the condition die before birth and those who are born are expected to survive for only a matter of weeks; believes that in those families where a child is born with Edwards syndrome there is a need for specific support and care; recognises the importance of early diagnosis of Edwards syndrome to inform parents as soon as possible; believes that there is a need for bereavement services for families who lose children because of it, and recognises the benefits of a framework for care in Scotland that meets the needs of babies requiring palliative care and supports their families and a care pathway approach to delivering care and support to these children and their families from diagnosis to end of life and bereavement.
I thank members of all parties who supported my motion on the provision of support for children with Edwards syndrome and babies with palliative care needs, and I particularly thank the members who are here, given the change to the time of the debate.
We are here because of a baby called Caoimhe, who was born in Aberdeen royal infirmary and had Edwards syndrome. Caoimhe’s parents, Patricia and Peter, are here with us in Holyrood, because they want more people to be aware of Edwards syndrome; they want people to be aware of what Edwards is and of its impact on families who have a baby with the condition.
Many members will not have heard of Edwards before today’s debate; I had not heard of it before I met Patricia and Peter. Its effects are devastating. It is a genetic disorder that is similar to Down’s syndrome but which has a much poorer prognosis for the child. It occurs in about one in 6,000 live births, so it is very rare. However, given that there were nearly 60,000 births in Scotland last year, there will be families in that situation every year, somewhere.
The majority of foetuses with the syndrome die before birth, and the median lifespan of children who are born is just five to 15 days. Caoimhe lived for 65 days. The condition is rare, but its effect on families could not be more profound, which is why our health services must be ready with the information and support that families need if they are to make the best decisions for their children.
Patricia and Peter feel that lack of awareness of Edwards affected them in a number of ways. Many parents whose babies are diagnosed with a condition during pregnancy understandably choose not to continue the pregnancy. Of course, that is an agonising choice to have to make. Caoimhe’s diagnosis was not finally confirmed until 31 weeks into the pregnancy, so Patricia felt that that was too late to make that choice. For her, that reinforces the need for early checks for Edwards in screening and for diagnosis as soon as possible.
From speaking to Patricia about her experience, I have no doubt that she came across health professionals who were very much committed to doing their best for Caoimhe, but her overall experience left her with a strong belief that the local health and care services were simply not well placed to deal with an Edwards baby. She thinks that Caoimhe and the family would have benefited from more advice and support and from care provision that was more focused on the specific situation of a baby with palliative care needs. In particular, the family think that more could have been done for Caoimhe in the short time that she had at home. Those were days that the family cherished, but which were hugely challenging for them and for Caoimhe herself.
There are charities and organisations such as Children’s Hospice Association Scotland that do wonderful work with children and young people who have life-limiting conditions, but Patricia’s experience with Caoimhe shows the need for a focus on support for families in the particularly difficult situation of having a baby who requires palliative care.
Caoimhe’s family want families who find themselves in similar situations to have better support and care than they had. They have not been bowed by their experience, but have established a website and trust in Caoimhe’s name, to make people aware of Edwards and the needs of families who have babies with palliative care needs. We also know that about 150 babies a year die during late foetal life, between 24 and 40 weeks of pregnancy, because of congenital conditions.
I have to say that, having had the chance to look further into this immensely challenging subject, I am in no way despondent; rather, I am confident that services will improve, because organisations such as CHAS and Together for Short Lives are working with professionals in the health service in Scotland, such as Edile Murdoch, who is a consultant neonatologist at the Royal infirmary of Edinburgh, to develop a Scotland-wide care pathway approach to delivery of care and support for babies who have life-limiting conditions. The pathway is designed to cover the whole journey for baby and family, from antenatal screening and breaking the awful news to the family to planning for going home, with a multi-agency care plan, and dealing with bereavement.
The pathway is also designed to help professionals to engage with the child’s and the family’s needs and to ensure that everything is in place for families so that they can access the support that is right for them. Although the pathway will require provision of training and ensuring that the right staff are in place, it is not about more services or even about significantly more funding, but about the services that we have working better in partnership and following a nationally established pathway of care so that wherever the family is in Scotland, they can expect the same support and care, focused on their needs. All the professionals who are dealing with these difficult and rare situations will know what is expected of them and what steps they should take to support the baby and the family.
The draft perinatal palliative care pathway for the south-east Scotland and Tayside managed clinical network has been completed and put out to consultation with a view to refining it by the end of January. It is hoped that the pathway will be accepted as a pathway across all three managed clinical neonatal networks in Scotland and that it will be presented to the Scottish children and young people’s palliative care executive as well. The establishment of a pathway of care is a commendable and logical step to take. When I discussed with Patricia the proposal for a pathway approach that Edile Murdoch had given us, Patricia said to me that if that had been in place for her family and for Caoimhe, it would have made all the difference to them. It would have made it easier to cope with the terrible situation that they faced.
I know that ministers support that work and I hope that they will continue to support and endorse the establishment of the care pathway. The progress that is being made with the Scottish Government is very welcome. I believe that it will allow the people in Scotland who have expertise in these difficult issues to ensure that throughout the country we are better prepared to support families in these most difficult circumstances. Caoimhe’s family believe that putting those plans in place will, most of all, mean that there is better support for families who will in the future, unfortunately, go through what they have been through. I am sure that that is what ministers and the whole Parliament want, and I hope that ministers will continue to support families and professionals in creating a better care network for children who could not need our support more.
13:52
I thank Richard Baker for bringing this important debate to the chamber and offer my sincere condolences to Caoimhe’s family, who are here today. I know about the loss of a child; I was fortunate that my daughter lived until her late teens.
Like Richard Baker, I had never heard of Edwards syndrome. Obviously, when it is diagnosed it is a very traumatic and distressing time for a family. Early detection is absolutely necessary to ensure that parents can make the right choice for them at the time.
I cannot comprehend what it must be like to know that one’s child could be born stillborn or have a very short life. It is essential that we have the pathway of care to ensure that the parents and family of the unborn child understand what lies ahead of them. I understand that the Scottish child and young people’s palliative care executive has come forward with a palliative care programme, which I hope will be adopted. I also understand that a bereavement pathway was signed off in February 2011—a month and year that I will never forget.
It is essential to ensure not only that the parents and families have that information, but that the right care is there at the time of their need, towards the birth and thereafter. It could be hospice care or it could be care at home, but the right people need to give that care. People need to have training to understand and appreciate the impact of Edwards syndrome. My understanding is that a small amount of money has been made available to ensure that appropriate training will happen.
A United Kingdom organisation called SOFT UK has been supporting people in relation to the impact of Edwards syndrome, sometimes known as trisomy 18—there is an additional chromosome 18—since, I think, 1979. However, if parents do not know that there is help and information out there, they cannot seek it. The pathway of care needs to ensure that parents are aware of that help and that they have the appropriate information and support at that very devastating time when the diagnosis is made and thereafter, when the child is born.
13:55
I congratulate Richard Baker on bringing this important subject to the attention of Parliament.
Edwards syndrome is an autosomal trisomy, caused by all or part of an extra 18th chromosome. Problems in cell division either in the egg or sperm cell prior to conception cause the extra chromosome to be present. It is rarer and far less well known than trisomy 21, which is also called Down’s syndrome. Patau syndrome, which is a similar condition, is caused by an additional 13th chromosome, and is very similar to Edwards syndrome in its progression and its prognosis.
I, too, was completely ignorant of the condition until I was contacted by Demi Powell, who lives in Dalbeattie, regarding the selection of this motion for debate. I met Demi last summer when she was an Olympic torch bearer in Dumfries. Demi lost her eldest son Connor to Edwards syndrome twelve years ago. She is a trustee of SOFT UK, which is a charity that supports families who are affected by Edwards or Patau syndromes. It was due to Demi’s hard work for SOFT UK and her work supporting hundreds of affected families that she was nominated and selected as an Olympic torch-bearer.
SOFT UK is delighted that Parliament is debating the motion, but it wants us to realise that the ways in which families can be affected can be complex, so the support that different families require needs to take account of their different circumstances.
The most recent statistics from England and Wales suggest that 9 out of 10 families will opt for termination after prenatal diagnosis of Edwards or Patau syndrome, and they need support through that. However, 13 per cent of babies with Edwards syndrome are not diagnosed before birth and those families are unprepared for what the condition entails and for the fact that their child may die at or shortly after birth. More than 70 per cent of those babies are likely to die within a month.
However, increasing numbers of children with Edwards syndrome are now surviving the neonatal period and have a variety of clinical needs. Recent research from Japan suggests that possibly a quarter of those infants are capable of survival for more than a year if they receive the appropriate medical interventions. There are variations of Edwards syndrome, including mosaic and partial forms. Children with those forms can enjoy relatively good health and attend mainstream schools and colleges if their longer-term health needs are properly supported.
SOFT UK wants us to understand that each family that is affected by Edwards syndrome is different; that they will need support after diagnosis, perhaps after termination or neonatal death; and that some whose children live longer will require support in caring for their child. Part of the SOFT UK website is dedicated to youngsters who have died of the condition. One of those young people lived to early adulthood and was living in supported accommodation when he died of apnoea. Interventions that prolong life and support sufferers and their families are needed in addition to palliative care and bereavement support in helping each of those families and each of those children through their pathways.
The briefing that SOFT UK has provided for me also states that provision of antenatal screening varies across Scotland, and that figures on diagnosis of Edwards syndrome are not routinely collected. Therefore, there is no analysis of why antenatal screening is failing in 13 per cent of cases and those babies are born without their parents realising that they have the condition.
SOFT UK has been working actively in Scotland for more than 20 years—maybe longer, given what Dennis Robertson was saying—providing befriending support and collecting a wealth of information and research. It wants to work closely with Caoimhe’s Trust in Aberdeen and I am certain that it would be willing to share its expertise with the Scottish Government to support families and those to come who will have the conditions.
13:59
I commend Richard Baker for bringing this important and sensitive subject to the chamber for debate. There can be nothing worse than learning before term or very soon afterwards that a baby is suffering from a disorder that will result in either stillbirth or death within weeks of birth. Fortunately, such situations are relatively rare, but for the one in 6,000 foetuses with trisomy 18—or Edwards syndrome—and their parents, that is the very bleak outlook.
I admit that I did not know about Edwards syndrome until I researched it prior to the debate, although it is the second most common such genetic disorder after Down’s syndrome, with which we are all much more familiar. Edwards syndrome has devastating consequences, with up to 95 per cent of affected foetuses dying before birth. The few—mainly female—who survive to be born show low birth weight and fairly typical abnormalities of head and face, and other skeletal abnormalities as well as congenital heart defects and a multiplicity of other serious physical problems.
To learn that one is carrying such a baby must be devastating news, and we can only begin to imagine how parents can face up to it. It is clear that there is a need for support—not just in coming to terms with the awful prognosis, but to be able to look after the baby if it is born alive, and at the same time to prepare for losing it just a few weeks after bonding with the new arrival. A third of the babies who are born alive will die within a month because of medical problems. Indeed, only 5 per cent to 10 per cent of babies with full Edwards syndrome will survive beyond a year, and they will live with severe disabilities.
The few people who have lesser forms—which are known as the mosaic and partial forms—of trisomy 18 may well survive into adult life, but they are few in number. For most, sadly, the outlook is very bleak, and support is needed in providing palliative care for the baby and in sustaining the family physically and emotionally.
I pay tribute, as other members have, to Caoimhe’s parents, who have set up a trust for Edwards syndrome in her name. I do not think that anyone could read Caoimhe’s story, as presented on the trust’s website, with a dry eye. It talks about the heartbreak of learning the diagnosis pre-birth, together with the depressing prognosis for the condition; getting to know and love a little baby girl while facing the certainty of her premature death and the uncertainty of when that would be; the ups and downs and serious illnesses of her short life; and the early celebration of a Christmas that she would never see. All those things are heart-rending.
Many parents in such a situation would withdraw from the world and grieve in private, but Caoimhe’s parents, as we have heard, decided to share their experience with others and set up a trust with the aim of helping future parents in the same situation to get the support that they need. In my opinion, that was an extremely brave thing to do. I wish them well in their efforts, and if they succeed in helping—even a little—to ease the burden for families who are affected by Edwards syndrome in the future, they will have established a very fitting legacy for their little daughter.
I am not aware of what care and support is currently available in Scotland for people who are affected not only by Edwards syndrome but by stillbirth or early bereavement for any reason. However, it is obvious that there is a need for bereavement services for such families, and for a care plan for delivering care and support to affected children and their families all the way from diagnosis through to the end of life and bereavement.
I am encouraged to hear from Richard Baker that there are plans for a pathway of support to be developed. I look forward to hearing from the minister about the services that are available, and whether there are plans to improve such services in the future. I hope that the minister will support the proposed care pathway, and once again I commend Richard Baker for highlighting this important issue in Parliament.
14:03
I add my congratulations to those of other members to Richard Baker on bringing the debate to the chamber. Once again, Parliament is facing up to an issue of which it is not fully aware, as members have said. That has been brought about by the courage of parents who have been in the difficult situation of experiencing the birth of an Edwards syndrome child.
I will not reiterate the points that colleagues have made, but I will amplify one or two points. With regard to early screening and diagnosis, amniocentesis and chorionic villus sampling would play a significant part, as would ultrasound screening to look for slow growth or underweight development, which should lead to amniocentesis and chorionic villus sampling where appropriate, and so should give parents the opportunity to seek an abortion, if they wish to do so.
In researching my speech, I drew first on my own experience. I practised paediatrics at the Western general hospital here in Edinburgh more than 40 years ago, and experienced a case that we did not know at the time was Edwards syndrome, which had some of the characteristic features that Nanette Milne spoke about.
I also looked at the web, as many of us do when trying to learn about subjects for which we do not have adequate information. I discovered the SOFT UK website, which I found interesting and which offers support for both Patau syndrome or trisomy 13, and Edwards syndrome or trisomy 18. SOFT UK obviously does an excellent job in providing information. I also found it interesting that on Mumsnet there is a current thread regarding a lady who is pregnant with what may be an Edwards syndrome baby. Her consultant has said that she has a one in three chance of having such a child, so she is looking for advice and support. I hope that someone will put her in touch with SOFT UK so that she can receive that.
One of the things that are transforming our society is the ability of those who have experienced such problems to come through them in a way that, in a sense, makes them stronger. They use their grief in order to do things such as setting up a trust, as Patricia and Peter have done. Their involvement through the social media in supporting others is something that we need to look at and encourage.
In the meantime, there is the establishment of the proposed pathway, with its five outcomes and 10 key objectives. I am sure that the Minister for Public Health and the Government will tell us how that is progressing. It seems to me that we have a good base to build on in Scotland. Our children’s hospices, which were not the first hospices to be established in Scotland but arose from the hospice movement that developed in the 1970s, have already played an enormously important role in supporting parents in situations of palliative care. That includes engaging with families with a child who has Edwards syndrome, but there is now a move to do that in a more formal way. CHAS’s next big effort, in addition to the two residential hospices that have been established, is to develop community support across the country. I wish CHAS well in that. We need specialist support for parents like Patricia and Peter whose children suffer from Edwards syndrome.
I feel that we are making good progress and, as Richard Baker is, I am optimistic because although a cure cannot be found at the present time, the possibility for supporting parents exists. I am sure that the Government will be supportive in that respect.
I invite Michael Matheson to respond to the debate. Minister, you have seven minutes.
14:07
As others have done, I congratulate Richard Baker on securing time for the debate and on bringing to the chamber an important issue that a number of members have said has made them aware of a condition of which they were previously not aware. I became aware of the condition only about a year ago, when a friend’s sister had a baby with Edwards syndrome, which led me to find out more about the syndrome.
As any parent would recognise, having a child with a life-limiting illness is hugely challenging for the parents and the whole family. The work of organisations such as Caoimhe’s Trust provides an essential form of help and support to such families. I commend Caoimhe’s parents for the way in which they have gone about that and have used their experience to try to help and support other parents and families.
Through the current antenatal screening programme that is offered to pregnant women, the majority of cases with Edwards syndrome will be detected halfway through pregnancy. A number of members have referred to the importance of early diagnosis. It may be helpful if I point out that the United Kingdom National Screening Committee is considering specific screening for Edwards syndrome and Patau syndrome in the first trimester. We expect to receive the conclusions of that work by spring next year; we will then consider how to take that forward as national policy.
I am sure that members will appreciate that maternity care for women should be person centred, safe and effective, that all pregnant women should have an initial assessment of their health, obstetric and social needs, and that they should be offered appropriate screening referral and care options by 12 weeks’ gestation.
We recognise that many babies who are affected by Edwards syndrome die either before or during childbirth. The death of a child is distressing for any parent, so every effort should be made to support parents through that difficult time and to ensure that they are treated with the appropriate dignity and the required care. We have provided some funding over two years to the charity SANDS—the Stillbirth and Neonatal Death Society—to enable it to work with NHS boards to ensure that relevant staff receive appropriate education and training to support parents during that painful time.
As a Government, we are also committed to ensuring that sick and vulnerable children receive the highest-quality care from the most appropriate professionals at all times, and we recognise the vital role of neonatal units in providing intensive and specialist care for sick and premature babies.
Through our neonatal quality framework, which will be published soon, neonatal services will be required to provide evidence of person-centred care, including palliative care. Families, including siblings, should be offered access to communication, information and advocacy services, including referrals for counselling and bereavement support. That is intended to support them in their participation around discussions, clinical care decisions, palliative care planning and end-of-life care, if that is required. Such planning should also take account of families’ cultural and religious preferences, needs and values. Palliative care planning and end-of-life decisions should be made in partnership with professionals and parents, and care should be provided in an appropriate environment, whether that is a hospice or a home setting.
Children and young people have different needs from adults when it comes to palliative care. It has been said before and it is worth reiterating that children are not mini-adults in such situations. That is why Scotland’s national action plan for palliative and end-of-life care recognises the need for a specific framework for children and young people.
Members have mentioned the children and young people’s palliative care executive, which consists of experts in the field. It has produced a framework that aims to ensure that there are recognised pathways of palliative care within and among health boards for every child and young person from the point of diagnosis of a life-limiting condition through to living with their condition until the end of life. The framework has five key outcomes and they have been highlighted to all chief executives of NHS boards in Scotland. In advancing those outcomes, they will deliver the palliative care services that children and young people need. I expect all boards to implement the outcomes as a matter of priority.
A managed clinical network for children with exceptional health care needs was set up in 2009 as part of the on-going work to improve specialist services for children and young people. It is an important way in which to develop the services that are provided for children who have exceptional health care needs while also helping to share good practice across Scotland and agree pathways of care. That should help practitioners to support children.
Dennis Robertson mentioned “Shaping Bereavement Care: A Framework for Action for Bereavement Care in NHSScotland”, which was published in February 2011 to provide guidance and support to NHS Scotland on how to develop and deliver bereavement care. It sets out a framework of action for boards and recognises the need for better co-ordination and understanding of the needs of people who are bereaved. A national bereavement pack and information leaflet were developed to support health boards in implementing the guidance, and the series of modules that have been rolled out to help to raise awareness and provide further support for staff include a specific module on the death of a child.
I hope that I have given members some insight into the work that is being done to support individuals who have a child with a life-limiting condition, including those with Edwards syndrome. I am always happy to hear from members if they feel that further actions could be taken. Should members wish to raise any points with me, I will be more than happy to discuss them.
I wish Caoimhe’s Trust continued success in the work that it does. I hope that all members will give it the support that it needs and help it to spread greater knowledge of Edwards syndrome.
Thank you, minister. That concludes Richard Baker’s members’ business debate on Edwards syndrome and support for babies with palliative care needs.
As the next item of business cannot commence until 2.30 pm, I suspend this meeting of Parliament until then.
14:15
Meeting suspended.
14:30
On resuming—