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.