Jerry Buttimer (Cork South Central, Fine Gael)
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I welcome everybody to the meeting. I remind members, witnesses and those in the public gallery to please ensure that their mobile telephones are switched off so that the recordings of proceedings are not disrupted. Such phones can also interfere with the broadcasting of the meeting.

The issue for our first meeting this morning is sickle cell disease in Ireland. At the outset I express my gratitude and that of the committee to Deputy Robert Dowds for proposing the meeting and his assistance in organising it.

Sickle cell disease is a hereditary blood disorder characterised by red blood cells that assume an abnormal rigid sickle shape, which decreases the cells' flexibility. The disease has a risk of various life-threatening complications, and life expectancy is reduced. In 1994, in the US, the average life expectancy of persons with the condition was estimated to be 42 in males and 48 in females, but today, thanks to better management of the disease, patients can live into their seventies or beyond.

In the past ten years, medical professionals in Ireland have reported a yearly increase in patients reporting in hospitals with sickle cell disease. It is against this alarming increase in patient numbers that we convene the meeting. I welcome Dr. Corrina McMahon, the lead haematologist for haemoglobinopathy services at Our Lady's Children's Hospital in Crumlin, and Dr. Eibhlin Conneally, consultant haematologist at St. James's Hospital. Ms Lora Ruth Wogu, founder and chairperson of Sickle Cell and Thalassaemia Ireland, is expected to attend shortly. I apologise for the delay at the beginning.

Before we commence I remind witnesses that they are protected by absolute privilege in respect of their evidence to the committee. If witnesses are directed by the committee to cease giving evidence on a particular matter and they continue to do so, they are entitled thereafter only to a qualified privilege in respect of their evidence. Witnesses are directed that only evidence connected with the subject matter of these proceedings is to be given and they are asked to respect the parliamentary practice to the effect that, where possible, they should not comment on, criticise or make charges against any person, persons or entity by name or in such a way as to make him or her identifiable.

Members are reminded of the long-standing parliamentary practice to the effect that they should not comment on, criticise or make charges against a person outside the House or an official either by name or in such a way as to make him or her identifiable.

I call Dr. Corrina McMahon to make her opening remarks.

Dr. Corrina McMahon:

I thank the committee for the opportunity to address this esteemed establishment on this condition. Sickle cell disease is a relatively new condition in Ireland. Up until the mid-1990s, there were two people with sickle cell disease here. In 1998, we wrote a paper saying we anticipated an explosion of sickle cell disease. At that point there were 12 children with sickle cell disease in the country. As members can see from my diagrams, the real increase happened with the boom, in 2000 to 2003, when the number increased from 12 people to almost 200 people, and there has been a steady yearly increase ever since. At this moment in time there are 400 children and 100, or slightly more, adults with sickle cell disease in this country. That gives us a huge opportunity to do something right and groundbreaking. This is the first time in years, in an Irish context, that we have had a new disease, and this allows us to build on the shoulders of others in other countries who have made mistakes but are now finding a better way to do things.

I thank the Chairman for his introduction which says it all. Sickle cell disease is a very unpleasant condition with three characteristic features. First, children and adults suffer chronic anaemia that can worsen, become life threatening and can kill people. Sufferers also lack spleen function which makes them more prone to infection. They also have vaso-occlusion, as described, which refers to a blockage of blood vessels due to the funny shape of red cells, and this can happen anywhere in the body. As a result, it can give rise to the acute crisis of a blocked blood vessel anywhere in the body. It can happen in the brain and so will lead to a stroke. It can happen in the eyes and so one will go blind. It can happen in the chest so therefore one cannot breathe. It can happen in one's bones so that, over time, they literally crumble and, therefore, people die.

As members will have heard, in the mid-1990s, life expectancy for a sufferer was 42 years in the United States, and no one else collated life expectancy data. We still suggest that there is about a 10% mortality rate in developed Western countries. The Americans did some work on the issue in Kenya and Guyana in the early 2000s and found that no one with sickle cell disease lived to be over the age of 20 or 30 years. That is a short summary of sickle cell disease.

In Ireland we have been fortunate because we have come in at the beginning of a disease. We have set up various programmes for children, we have used the models we gleaned from the United Kingdom and America and we have also used the haemophilia model from Ireland. Basically, we have a series of protocols. We also provide an outreach programme to hospitals throughout the country. We provide a shared care programme and shared care courses.

We want to treat crises appropriately because, if one does not, children will die. We also want to prevent damage. There is a major risk of damage to the brain because, if one suffers a stroke, one is destroyed for life. With our radiology and neurology colleagues in Crumlin, we provide an MRI and ultrasound programme on the blood vessels in the brain. It is because of that that our stroke rate is quite small by comparison with the rest of Europe and America.

About 50% of our population is on a chemotherapeutic drug called Hydroxyurea which reduces the effect of sickle cell disease on the body. We have some people on long-term transfusion programmes. The treatment means they do not make so many sickle cells and so they do not have as many crises. We have also carried out transplants on people with sickle cell disease. However, the problem with transplantation is that we currently send our children to London for a transplant, which is not very cost efficient.

Sadly, there have been sickle deaths in Ireland. One might not know that if one looked at the death registry, and I only know this from what I have been told. There have been ten sickle cell deaths of children in this country.

I have outlined what sickle cell is and what we do. I will now outline the challenges we face and how we can make an impact on this new disease. First, I will take a little moan minute. Our staffing level is less now than it was in 2006, despite the fact the number of sufferers has almost doubled. We only have a psychologist on quarter-time, even though brain injury is a very significant issue. We only have a social worker on half-time, although sufferers have very significant social problems. Obviously I would like if we could look at the programme. We are the only people, by and large, to look after sickle cell disease in a comprehensive care fashion in this country at the moment.

Another issue I wish to raise is neonatal screening. As members will know, the United States provides state-run screening. Every state in the America has a universal screening programme because the country has a long-term history of sickle cell disease. We do not need a universal screen programme like our colleagues in the UK, but we do need a screening programme. We have a screening programme which I set up with the maternity hospitals because children were dying without a diagnosis of sickle cell disease. The screening programme is carried on a grace and favour basis by the maternity hospitals and we see the patients. As the numbers have increased, the system is no longer adequate. We now need a targeted screening programme. One might ask why we should bother. The reason is children can die as young as six weeks of age from sickle cell complications. Therefore, we need early diagnosis, early education and to start children on penicillin, which is all fundamental stuff.

I have talked about bone marrow transplantation, which is the way forward for sickle cell disease, and we should examine it. The French have demonstrated that the most cost-efficient way to manage sickle cell disease is to carry out a transplant on children early in order that they do not suffer long-term complications. In Ireland, we are not funded to carry out sickle cell transplantation so we spend vast sums of money sending children to the UK. We should provide better care.

My colleague, Dr. Conneally, will talk a little bit about adult care. We do not have an adult care programme at the moment but we need one because people die in the transition period between childhood and adulthood.

My colleagues in the UK found the following to be very effective. I would like us to have a specific reference box for sickle cell disease on the death registry. Sadly, at the moment, people with sickle cell disease either die from their disease or a complication of the disease. We need to be able to extract that anonymous data to audit the disease and examine the treatment pathways to see if there is something we can do better.

In summary, sickle cell is a major issue for this country, not only in the African, Asian and Arabic communities but for the indigenous Irish community very soon. The management of the disease involves an holistic approach starting with the awareness and access to genetic counselling. We can develop strategies in this country standing on the shoulders of other countries which have made mistakes and are now putting things right. We can get it right from time zero.

Jerry Buttimer (Cork South Central, Fine Gael)
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I welcome Ms Wogu and thank her for attending. I call Dr. Conneally to make her presentation.

Dr. Eibhlín Conneally:

I am a haematologist and I am head of haematology and oncology at St. James's Hospital. I am not a sickle cell doctor or haemoglobinopathy specialist but, to date, we have not required an adult haematologist with that skill set.

As Dr. McMahon alluded, we have not had this disease in adults in Ireland before now due to a successful paediatric programme. There are about 400 people with sickle cell disease within the programme.

There are 38 adult patients in St. James's Hospital who moved to Ireland as adults or, alternatively, transitioned to St. James's Hospital because of clinical need. For example, one child needed to go to the intensive care unit in St. James's Hospital because the bed was not big enough for him. Hence, he was transferred. What we want is a planned service. There are 28 patients in the paediatric cohort who are older than 16 years and 22 patients between 15 and 16 years of age. That leaves us with a cohort of 90 patients needing adult care.

The issue concerns setting up a programme and having a chronic disease model. The best established model is the haemophilia model developed following the Lindsay tribunal in Ireland, where there are dedicated consultants operating on a hub and spoke model. The specialist resource is in a single hospital and liaises with hospitals elsewhere in the country. Approximately 90% of people with sickle cell disease in Ireland live in Dublin, mainly because of the way immigration accommodation was set up. Some people have moved to the midlands or Limerick.

It comes down to resources and funding resources and trying to have specialist people involved. There is no commissioning service within the Irish health service so, in terms of trying to establish costs, it is quite difficult. As Dr. McMahon said, the organisations and teams treating sickle cell disease in the UK and in the US are very keen to help us to get it right. They see that we are at the beginning, particularly from an adult perspective, and are keen to help.

Another important point is that patients with sickle cell disease are not automatically entitled to medical cards. That is straightforward in theory but would be a useful feature for them.

From our perspective, setting up a sickle cell service is a priority and we have the necessary colleagues who can support the service but we need nursing and medical resources. We recently interviewed for a consultant haematologist with an interest in sickle cell disease and, unfortunately, given the difficulties in recruiting consultants, it is unlikely that we will be able to appoint someone from the competition. I am happy to take questions.

Jerry Buttimer (Cork South Central, Fine Gael)
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I welcome Ms Wogu to the meeting and thank her for the work she does as the founder of Sickle Cell and Thalassaemia Ireland. We know she got caught in traffic and we understand she is under pressure.

Ms Loru Ruth Wogu:

I thank the committee for having me. The organisation was set up with the parents and carers of patients with sickle cell disease and the adults who have the disease. We are trying to encourage support as well as awareness because we know sickle cell disease is new in Ireland and most of the public is unaware of what it is. We are trying to raise as much awareness as possible and trying to see how we can support each other and the families going through sickle cell anaemia.

Our main campaign concerns genetic screening, whereby we hope we can have a newborn screening programme for all target groups. Dr. McMahon has spoken about that. During our campaign, we found that most people of African and Asian origin do not know about sickle cell disease and have not had the test. They do not know their status so it is important to have the screening programme in maternity hospitals for all newborns. We are also looking at knowing the statistics of adults who have sickle cell in Ireland. Through knowing the statistics, we know about the number of potential cases in the future. As the migration system is growing, there are many Africans and Indians, who are the target groups for sickle cell disease.

Dr. Conneally spoke about medical cards. Many patients find it very hard and will find it very hard in the future to be able to pay for medical services. They need to be considered for discretionary medical cards.

With regard to the training initiative, because we are working mainly on awareness, we hope that the committee can consider linking us to the HSE and the education system on providing more training on sickle cell disease in schools and colleges, especially for the medical students who should come out knowing more about it, how it is to be treated and how to treat a patient suffering from sickle cell anaemia.

Jerry Buttimer (Cork South Central, Fine Gael)
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I thank the witnesses for their presentations and I now invite members to put questions. I thank Deputy Ó Caoláin for allowing Deputy Robert Dowds, as today's organiser, to speak first.

Robert Dowds (Dublin Mid West, Labour)
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I thank Deputy Ó Caoláin for allowing me to go first and I thank the Chairman and the committee for agreeing to put this topic on the agenda. I should express my interest in this because Lora approached me some time ago and asked me to be patron of Sickle Cell and Thalassaemia Ireland. For that reason, I may know more about this than most people. If most come from where I came from at the beginning, they will know nothing about the issue.

In response to questions, it may be useful if Dr. McMahon or Dr. Conneally can indicate the extent to which there is cover to find out the extent of the problem in hospitals across the country. From what I know, it is hit and miss and we need a much more comprehensive situation to prevent this from becoming a major problem, which it will undoubtedly become if we do not act. Does the committee agree to send these three papers to the Minister and ask him for a direct response on how he intends to deal with the matter? From what Dr. McMahon says, a small intervention will save a great deal of money down the road and will be more effective in tackling this disease.

The one point not mentioned by the people making presentations is that a country like Nigeria has 40 million people with the sickle cell trait in their system to some degree. This is indicative of the extent to which it could become a big problem. The most important thing we should try to achieve is a comprehensive screening programme, particularly aimed at women and babies at the time of birth. I would like the committee to agree to send that message.

It is particularly valuable that the initiative has come from people in the immigrant community. That is where most of the problem lies and it is particularly good that the response is coming from that community.

In this regard I would like to point out to the committee that Lora has done a great deal to reach out to people in those communities. As she said herself, many of them are unaware of the condition and it is important that people who might be vulnerable to it are aware of it so that they can deal with it. I commend her and her group for the work they have done.

I have two questions, one for the witnesses and one for the committee. First, to what extent is there proper cover at present? My suspicion is that it is quite limited. Second, is the committee agreeable to sending these papers to the Minister for Health and asking him how he intends to act?

I also commend Dr. McMahon, Dr. Conneally and Lora for the huge amount of work they have done in educating people and highlighting the significance of this issue.

Caoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein)
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I join the Chairman and Deputy Dowds in welcoming our visitors. I ask them to give us an outline of the symptoms of sickle cell disease. How does it manifest itself and what impact does it have on the lives of the carrier-sufferer? Despite having looked through various papers in advance of this meeting and listened to the witnesses' contributions, I do not have a sufficient understanding of the extent of the impact on the lives of those who are diagnosed with sickle cell disease and thalassaemia.

I have two questions arising from Dr. McMahon's presentation, the first point aside. In the tables that Dr. McMahon presented, the second indicated a significant reduction in the number of new sickle cell disease patients presenting at Our Lady's Children's Hospital in Crumlin. In 2003, the figure was over 115 and this worked its way down almost consistently until last year, 2013, when the figure was only 22. That suggests a certain message but I wonder is it really the case at all? It may not be. The graph probably gives a confusing message to the uninformed or less informed and needs a little elaboration. I do not think it is telling us what it might really be saying.

The other point concerns bone marrow transplants. Dr. McMahon referred to two children with severe sickle cell disease who had sibling bone marrow transplantation and were cured of the disease. That is wonderful news but it is such a small number and there is only one other case pending. There are limited resources here in Dublin and I presume that is mirrored across the island of Ireland. More and more at meetings of this committee we are looking at the potential for developing North-South co-operation in order to better secure health services on the island of Ireland rather than people having to leave the shores of this country and go to the neighbouring island or beyond. Is there any comparable project under way north of the Border? I presume there are equally increasing numbers of people presenting because of the newcomer population within the North of Ireland. How is it being dealt with there? Is there a basis for co-operation to allow for the introduction of the bone marrow transplant procedure here, on the island of Ireland, which is more affordable in the first instance and much more considerate of the individual child and his or her family?

Dr. Conneally made reference to adult needs and I noted in one of the papers I read that there is a proposal to consider St. James' Hospital in the context of the new relationship between it and the signalled new national children's hospital on that campus. I can follow the logic of what Dr. Conneally has indicated. Can she tell us exactly where that is - is it an aspiration or is there a firm proposal in place? Is there any commitment at this point in time to realise such an adult service? I am also obliged to ask - because I do not know - if sickle cell disease or thalassaemia impacts in terms of one's life expectancy. In terms of the adult cohort, I ask the witnesses to give us a profile or an indicator of what we are talking about in real terms.

Finally, I welcome Lora, whose paper I found very interesting. She has made a number of recommendations from the perspective of the affected community, which is very welcome. There are a number of what I would regard as fairly straight forward recommendations that should not overly challenge the system. Sadly, the system at the present time is ever more difficult to get good results from, mostly because of the more difficult economic circumstances in which we all live. I can appreciate the case being made regarding access to medical cards. However, other than the fact that there may be a cure as a result of a bone marrow transplant, I presume in all other situations we are talking only about treatment and control. It would appear - from my limited exposure and knowledge - to be a long-term illness and there is a long-term illness card available in this jurisdiction. I know how difficult it is to get medical cards at the present time and the very restricted basis on which medical cards are currently being approved. It may already be the case that because of their economic circumstances, people with sickle cell disease will qualify for a medical card in any event. However, based on the actual condition, the greater likelihood is that a long-term illness card would be the more appropriate way to proceed with that particular argument. I only offer that as an observation. There is so much more in what the witnesses have brought to our attention this morning. I thank each of them for their contributions.

Colm Burke (Fine Gael)
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I thank the witnesses for their presentation. I seek clarification on the newborn screening programme. This is obviously something that would be hugely advantageous if it were introduced. Have there been any discussions with the 19 maternity units in the country on the possibility of introducing such a screening programme? On the issue of information being provided to GPs, have there been any discussions with the Irish College of General Practitioners or the various organisations representing GPs about presentations or getting information out to doctors?

Has progress been made on the dissemination of information?

I recall speaking to a person who returned to Ireland, having worked in the health services in United Kingdom, who suggested that a clinic specifically to deal with teenage pregnancies would be set up in a maternity hospital. When working in the UK, there was a significant inflow of people from Somalia and, following the suggestion that the Somali people suffering particular conditions should have a specific clinic, it was set up within six months. However, it took some ten years before the clinic to deal with teenage pregnancies was set up in Ireland. One of the recommendations of the witnesses is that every hospital in the country should have basic inpatient and outpatient care for local patients. Is that feasible or would it be better to try to co-ordinate care on the basis of a identifying a hospital in each region with the expertise close enough to that particular area?

Sandra McLellan (Cork East, Sinn Fein)
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I welcome the witnesses and thank them for their presentations. The witnesses have made a number of recommendations and I believe they know what they need. It is just a matter of getting across the need for resources for a targeted screening programme. It was mentioned that some screening is done at maternity hospitals. Is there screening only at certain maternity hospitals or at all maternity hospitals?

Have the witnesses links with international hospitals? They made the point on the necessity to record the deaths from sickle cell disease in the deaths register. I presume that does not happen at present. What is the current process? How would it relate to international statistics? If SCD deaths are not registered, the incidence of the disease cannot be measured. Is it possible to treat some of the related illnesses locally or do those with the disease have to travel to Dublin for treatment?

The need for a central organisation and dedicated administrative structure was identified. Is this planned? Will it be part of the new children's hospital?

Bone marrow transplants between siblings must be done in London, and there were two cases where people were cured. If we can perform the transplant operations, it seems illogical to send people to London. Would it save the State money if they were performed here?

Dan Neville (Limerick, Fine Gael)
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I welcome the witnesses. It would appear from the statistics that the diagnosis of the disease in those under three years of age is problematic. In the age cohort from three years to four years, the incidence of the disease shoots up from eight to 28 cases. From table 3, it would appear there is a problem with early diagnosis, which the witnesses have outlined as very important. I presume the lower incidence of the disease in the age cohort from 16 years onwards is related to the wave of immigration.

Would many immigrant families have a member with sickle cell disease who have had experience of treatment abroad? How would they compare the opportunity for treatment in their home countries with treatment in Ireland?

Dr. Corrina McMahon:

In the course of my response, I may answer the questions put by members. I will start with the symptomatology of the disease. Anaemia makes one tired, but more than making one tired, it also interferes with how one's brain functions so that, over time, and there are data to support this, one does not achieve as one should. A person is intellectually blunted. The Americans, having looked at this disease over a 30 year period, found that people without a stroke but with anaemia were less likely to do well, and in fact many people with sickle cell disease did not finish school, did not achieve and were on benefits. The only unifying reason in that group, who were a so-called clean group and had not suffered a stroke or other symptoms, was anaemia. Anaemia is a significant issue.

The infection one gets is life threatening and it is well documented that children can be dead by six to ten weeks of age from overwhelming infection. It is not the simple coughs and colds; it is life-threatening infection. The symptom that everyone knows is the vaso-occlusion, in which a blood vessel may block anywhere in the body. The tissue the blood vessels feed cannot get oxygen, which as members know is the life blood of the body. The cells start to die, so it is a living death, there is death within the body, and one may experience the symptoms the body sends out, such as pain, swelling, extreme ill health, high fevers, high white cell counts, excruciating pain and feeling really bad. People present with excruciating pain, not that they can say they have a pain where the block is, because the blood vessels and the nerves do not tell one where the pain is. They are in a ball of black pain. Some of the children in the United States have painted what they feel and it is a combination of black and red, because they feel so bad. In those circumstances, all they want is to be is fixed.

One can also get a pneumonia like symptom where one simply cannot breathe. One is sitting down and there is no oxygen going into one's lungs. One can present with problems with the bowel, as a small blood vessel can block entry to the bowel so the bowel blocks up and one gets the horrible swollen stomach with extreme pain. Then there is stroke. A stroke may not necessarily be painful but it can leave one with paralysis. Obviously a stroke can kill but obviously if it happens to a three year old child, he or she may not be able to move the right side of his or her body. He or she will live, but with the damage. Even if we can make the physical side of the person better, as we can do a blood exchange, and get rid of the sickling cells and try to restore the brain function, he or she may move again, but over time one begins to see the signs of deterioration in the intellectual functioning when the child cannot write as well or remember things.

They cannot do their maths and start to fall through the cracks so that really clever children can end up quite poor. That has a huge impact not only on life expectancy, but on the ability of people to function normally within the community. Those people will always be a burden on the State because they are disabled due to their sickle cell disease. That is the symptomatology of it.
Table 1 shows the increase in sickle cell disease patients while table 2 shows the total number of new sickle cell disease patients per year. This was when we became an amalgamated group so that we have one single comprehensive care centre. Prior to 2003, I was treating some patients in the children's hospital, Temple Street, while my colleagues were treating some in Tallaght hospital and Dr. Aengus O'Marcaigh had some in Our Lady's Children's Hospital, Crumlin. It was not a cohesive unit. As this is from 2013, that is the reason we see the increased number of patients. Table 2 shows the total number of new sickle cell disease patients per year and demonstrates that the disease has not gone away. It is still an issue. There are still more than 20 new patients per year. When I started in this area and visited the maternity hospitals in 2004 to suggest we should do something about this, people said there was no need as these people will be gone. They are not gone; they are going to be here. To put it in context, the number of new cystic fibrosis patients per year is 40 and there are 20 plus new sickle cell disease patients per year. In Ireland, we think cystic fibrosis is a major issue and have got fancy units all over the place treating cystic fibrosis patients while 20 plus people have sickle cell disease.
Table 3 may be a little confusing. It is really a matter for Dr. Eibhlin Conneally and her group. It shows the age profile in Our Lady's Children's Hospital, Crumlin, but does not reflect the adult age population about which I know very little, except what I am told. There is a big peak in the teenage group, the reason for which, as stated, was the economic climate in 2002 and 2003. There are fewer in the younger age groups but they are there and coming through and they will always come through.
Bone marrow transplantation is really exciting because it gives us the opportunity to cure. In the past bone marrow transplant was not a favoured therapy because in the sickle cell disease community many people with sickle cell disease felt that they did not have such bad sickle cell disease and that they did not need a transplant as it sounds very scary. When they reach the age of 30 and are profoundly damaged, it is too late to have a transplant. It is a case of one needing a transplant before one knows one needs it. As I said in my submission, there are new methodologies. In the next ten years bone marrow transplant will come into its own because it is the only curative therapy. Why would one have a person who will be damaged in ten or 20 years' time if he or she can be cured now? There are new methodologies for transplant. Transplant is quite scary and it involves a large amount of chemotherapy, it could kill one and it could leave one permanently damaged, but the new methods of transplantation are what we call "reduced intensity". There is less chemotherapy and a better way of doing things. The other issue is that one needs a donor in order to have a transplant. There are many people I would love to transplant but, unfortunately, we do not have family donors, so I cannot do it at this moment in time. The major contributor worldwide to the unrelated transplant registry is the Caucasian population which has a different set of types to the African and Asian populations but that is going to change because there are new ways of doing transplantation.
In terms of the cost of sending somebody away for a transplant, my colleagues in the UK are not cheap. They charge us about £200,000 per transplant. As one can imagine, the overseas fund is not overly happy with that and it also wants people to stay for three months about which it is equally not happy. At this moment in time it is refusing to pay for the three months' accommodation costs. I have a bind that it will pay for the transplant but not for the accommodation costs unless I can keep the children in UK for three months. I cannot do the transplant - it is very simple. It may cost £10,000 for the three months accommodation and the transplant costs £100,000 or £150,000, yet the problem with the overseas section is that it will not pay for the accommodation. In that case one cannot send people because who will pay the £10,000 cost? The more sensible approach is to have the transplants done here in Ireland. That would mean that children are closer to home, families are less disrupted and it would be much cheaper.
The way we started newborn screening was aproposof children dying without being diagnosed. We had seen in our own service that 80% to 90% of the children presenting to us were presenting in crisis, with some in extremis , and it seemed to us this was not sensible. We visited the Dublin maternity hospitals and Our Lady of Lourdes Hospital, Drogheda, essentially where the majority of children at risk were born. We thought if we could get this group to do neonatal screening, that would catch all the population. Our colleagues in the maternity hospitals on the east coast were very supportive and asked what they could do. We asked them to take blood and send it to our laboratories for which I have responsibility, St. James's lab, which was the original haemoglobinopathy lab, or Our Lady's Children's Hospital, Crumlin, lab. At that point I was able to say we would do it for nothing because it was in the good times. Since then we have had to charge for it, which is a negative and is putting people off sending it. In any case they did. Now there are very few people slipping through the nets.
As people migrate around the country, it becomes an issue. Since Cavan, Kilkenny and Limerick came on board, there has been a real boom. There are areas that are not doing it and we are following up on those because they are the people who are presenting late. Other maternity hospitals around the country are not doing it.
Recently, we have gone on a roadshow of talking to people about sickle cell disease so maybe we can get people to come on board. This is not the way to do things. We need an organised properly administered way of doing things in order that nobody is missed and everybody does it. I have given some talks for general practitioners. I telephoned the College of General Practitioners and said that sickle cell disease is a major issue and that we should be doing something about it. However, I did not get an enormous buy-in from the college which was unfortunate. We have not actually done the travelling roadshow for general practitioners recently but we probably should do it.
In regard to international links, I was the first person appointed with a brief for haemoglobinopathy and one of the externs on my interview panel was Dame Sally Davies, who is now the chief medical officer for the UK. She was enormously supportive. I travelled to her unit in the UK because at that time she was the lead physician for haemoglobinopathy and she was really useful. The people in the UK have been more than helpful. They have given us protocols and advice and we can telephone them. I also have links with my colleagues in the US because the year after I was appointed, Our Lady's Children's Hospital, Crumlin, set up links for leukaemia services with the St. Jude Children's Research Hospital in Memphis and it also had a sickle cell centre. We travelled to the St. Jude Children's Research Hospital, for which it paid, and it organised a national conference on sickle cell for us. It was wonderful. Since then, I have maintained those links and I attend the American national meeting for sickle cell disease every year. As I have given talks in the UK at its own national meeting, we have those links.

I have listed the deaths of which I am aware. I know about some of these because I have been personally involved with those patients and I know about the others because I have been told of them by other people. People who deal with the treatment of sickle cell patients hear about the deaths. However, if I went to the national registry, I would not be able to say how many deaths were as a result of sickle cell disease, because unless someone records the death as due to sickle cell disease, it will not be found. People record the death as due to a chest infection or a stroke and do not record it as a result of sickle cell disease.

In the United Kingdom, the system is much better and the link is included on the death record. Therefore, the UK forum for haemoglobin disorders can go to the register and get the data from the NHS. The forum and the NHS can examine the data together and see what happened and whether they could have done better with the case. This is not a blame game. It is like the National Haemovigilance Office which is concerned with blood transfusion. It is not there as part of a blame culture but to examine what happened and see what can be done better to ensure the mistakes made do not happen again. This sort of system would be very useful.

On the long-term illness cards, some years ago, I rang those responsible for the long-term illness cards and explained that sickle cell disease fits the criteria for the card, but I was told this card was not something people were enormously enthusiastic about and that medical cards would be better. They would be better, if we could get them.

Caoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein)
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For everyone.

Dr. Eibhlin Conneally:

There is significant variability in terms of sickle cell disease. Sickle cell disease does not affect some people's day-to-day life that much, but others suffer huge disability and incapacity as a result. This makes matters difficult in the context of who should have a bone marrow transplant. Obviously, we would not do a transplant for someone who has a relatively mild phenotype, whereas someone with a severe phenotype would need it.

In regard to life expectancy, the median life expectancy in the United States is only in the mid-40s, but the black community is over-represented in sickle cell community in the US; it is probably more socially disadvantaged. In Jamaica, where the care is probably better, the life expectancy is better than in the US, but it is still nowhere near normal life expectancy. We do not propose every hospital in the country should have a sickle cell disease treatment unit. Currently, sickle cell care is provided through the network of haematologists, but there is not a haematologist in every hospital. For example, if someone attends Portlaoise hospital, that person will be referred to Tullamore hospital where there is a haematologist. What we suggest should happen is that there would be an adult centre and that all those with sickle cell disease who would be initially in the paediatric centre could then transition to the adult centre. If they were well, we could see them on an annual or biennial basis, but if they were ill, we could see them more frequently. The primary care and day care could then be provided in their local hospital through the local haematologists. This is how we would see care being provided. This same mechanism is in existence for haemophiliacs. If we kept electronic patient records, the local hospital would know exactly what to do for the specific patient and could contact the national centre, paediatric or adult.

Currently, there is no commitment to an adult service, but there is awareness of the need for such a service. St. James's Hospital has the biggest haematology department in the country and is the national adult bone marrow transplant centre. Given the paediatric hospital will move to the St. James's site, it is the obvious choice for a service for those with sickle cell disease. St. James's Hospital also provides the regional apheresis service, where cells are withdrawn and replaced with normal red cells. Therefore, for many reasons St. James's Hospital is the rational choice for the service. There is support for this at CEO level, but the creation of a service is dependent on resources.

A question was asked about bone marrow transplantation. The committee will be pleased to hear we provide the unrelated bone marrow transplantation for the North of Ireland in Dublin. Therefore, the resource is coming the other way. This is for leukaemia or lymphoma transplantation, as transplantation has not been a realistic option for adult sickle cell disease patients.

Dr. Corrina McMahon:

Could I come back in regard to the North of Ireland as a question was asked about the situation there? There are very few people with sickle cell disease in the North of Ireland, fewer than 20, all of whom are paediatric cases. Because of circumstances, these are a fairly new population. The number is not growing hugely. We run an ultrasound service, a transcranal doctor, TCD, service. The hospitals in the North asked us to do their TCDs for them and we agreed to do so, but that has not happened. We have accepted transfers from the Belfast Children's Hospital because they were unsure how to manage them and we have such a big centre in comparison with theirs. We have also discussed co-operation. However, in terms of the management of sickle cell disease, the North is part of the UK programme. Therefore, it is supposed to be rolling out universal neonatal screening for sickle cell disease. This is an issue on which we have had some discussion in regard to how those in the North feel they can do that and what we can do to provide help to their laboratories.

Ms Lora Ruth Wogu:

Dr. McMahon has answered the question on medical cards. Deputy Neville asked about the difference between treatment for sickle cell patients in Africa and here. Adult patients with the disease who have come to Ireland find the treatment here very good and it has given them a chance to have a proper life again. As a result, they are able to contribute to the economy. Most of those adults here with the disease are trained nurses and they are working here because the treatment is much better than what they could get in Africa. In regard to parents of teenagers with sickle cell disease, we have to commend Dr. McMahon on how she looks after them. The main purpose of our organisation, as a migrant organisation, is to provide support. As an organisation, we know those who are suffering from the disease and try to provide support for them in this new culture. However, I cannot speak much about actual treatment.

We are looking for proper social services and support centres that will let us link in with the hospitals and the agents providing clinical treatment. We can help patients by providing support in that way. We find that where we can support each other, it is easier for both patients and families to manage the disease, without needing to attend hospitals continually.

Robert Dowds (Dublin Mid West, Labour)
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One of the things that relates to sickle cell is that many people can have a trait in it which really does not affect how they live their lives. If a couple were getting married and they wanted to check whether either of them had a sickle cell trait, how would they go about it? Would it be easy for them to get an answer to that?

Colm Burke (Fine Gael)
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The witnesses were talking about maternity units. The two big units that are not included in what the witnesses outline are Galway and Cork. There are 9,000 deliveries a year in Cork. Surely if those two regions could be brought on board, a huge number of screenings will be added just overnight.

Dr. Eibhlin Conneally:

If a couple went to their GP and asked to do the test, that can be done very easily. If both partners had carried the sickle cell trait, then they really should be referred for genetic counselling, because potentially they could have a child with sickle cell disease. That really is the bigger issue, rather than getting the test done.

Ms Lora Ruth Wogu:

Most of the adults we have met have already had their children, and they did not realise they had the sickle cell trait. That means that they do not know if their children have a sickle cell gene as well. With that we are trying to encourage them to get the test done by their GPs, but the main question they ask is who will pay for it. They feel they have to go the GP just to get the sickle cell test. After all, they just have the gene and they are not sick, so they are really not bothered about that. We believe that if we have the screening, they will not think about having to pay the €20 or €40 to get the sickle cell gene tested. Everybody will know what they are carrying. Most people get the test done, but they are not given the results, so they really do not know whether they have the sickle cell gene as well. We may find that there are a lot of people with the sickle cell trait and they do not know.

Dr. Corrina McMahon:

In the UK there is a series of community care centres in which they run a "Get wise, Get tested" campaign, and there are big posters involved. If somebody goes to a community care centre, he or she can get a haemoglobinopathy screen done and the community health nurse will provide the results. It is run by the NHS, so it is funded. It is complicated here in Ireland so we really need to think about the administration and how we do this.

We would link with the National Genetics Centre. We are looking at parents with a proven track record of sickle cell traits, and the mum would be pregnant again and so we would send them to the National Genetics Centre. If they already had their first baby and it had sickle cell disease, we would send them on for counselling at that point, so that they could look and see and how did this happen, what are their risks and what they should do.

I take the Senator's points about Galway and Cork. We almost had Galway on board at one point, but regrettably that fizzled out. We are just past that now. There is absolute international evidence that newborn screening saves lives. We should be doing this. I can go and beg maternity hospitals to introduce newborn screening, but we now need to have it on a sounder footing. In the UK, the Guthrie card goes to the metabolic centre and has a little punch and then they run the test, and then they send it to the haemoglobinopathy centre, which also has its little punch and the haemoglobin results are provided. Then it is sent back to the community centre, and the community centre links with the individual who has the baby or who has their own test done. That is how it happens in the UK. In Ireland, we get the tests. We ring the maternity hospitals, which send the babies to us and we see them within four weeks. Our turnaround time is to see the children within four weeks of being diagnosed. It is working well, but the issue is that it is working brilliantly for those areas that are testing, but is not working at all for those who are not.

The normal results from people we test go back to maternity hospitals, but they never get back to the kids. I try to see all of the children with the disease, and I also see all those with traits in my screening clinic, so that I can tell them their results. However, I do not have the capacity to send normal results back. The system does what it set out to do, which is to find the babies with sickle cell disease, but it is not the right way to be doing stuff.

Jerry Buttimer (Cork South Central, Fine Gael)
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I thank our three witnesses this morning. I apologise to Ms Wogu for mangling her name.

Ms Lora Ruth Wogu:

You are actually pronouncing it to sound more posh.

Jerry Buttimer (Cork South Central, Fine Gael)
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We should forward to the Minister the recommendations made in respect of training for GPs and medical students on sickle cell disease. It is important that we communicate to the Minister and the HSE and ask them to respond positively to the recommendations made in the three papers this morning. Is that agreed? Agreed.

Colm Burke (Fine Gael)
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Part of that recommendation is about the screening in the hospitals that do not provide it. The southern region includes Waterford, Cork and Tralee.

Jerry Buttimer (Cork South Central, Fine Gael)
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Can the Senator make a proposal?

Colm Burke (Fine Gael)
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I am formally proposing that we write to the Minister, suggesting that all maternity units provide the necessary screening.

Jerry Buttimer (Cork South Central, Fine Gael)
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Is that agreed? Agreed. We recently had a very successful rare diseases day and we also made a recommendation that the Minister would have a national strategy, and a national centre for rare diseases, and I hope that our discussion today may create a momentum towards building progress. I thank the witnesses for their work and their presentations this morning, and I thank Deputy Dowds for proposing this meeting today.