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.