Health: Rare Diseases

Lord Rogan Excerpts

Tuesday 3rd March 2015 Lords Chamber

[Lord Rogan (UUP)]

My Lords, I would also like to thank the noble Lord, Lord Turnberg, whom I congratulate on initiating this interesting and important debate. Immune thrombocytopenia, or ITP as it is commonly known, is a bleeding disorder affecting both adults and children and is seen in between one and four in 100,000 of the population. It is a rare condition and I am one of that rarity. I am conscious that members of the medical profession present this evening will have knowledge of what I am about to say, but it is nevertheless important that we have on record the concerns of ITP patients and their families.

This disease is known as an autoimmune disorder because the body’s immune system targets itself. It leads to a reduction in the elements of the blood, called platelets, which are responsible for making the blood clot. When their numbers fall, there is an increased risk of bleeding which may, in the most severely affected patients, be spontaneous, difficult to control and life-threatening. The impact on patients’ lives can be profound. Extensive bruising can be quite socially isolating, particularly in the summer months when one cannot cover up. Active bleeding from the nose, into the gut or as heavy periods can be distressing and may lead to anaemia and the problems which that can cause. At the very lowest levels of platelets there is always a risk of bleeding into the brain, which may be fatal for many.

Some 11 months ago I retired to bed perfectly normally to wake up, the next morning, in a bed with pillows and sheets covered in blood and bleeding from my nose and mouth. I was admitted to hospital and on examination I had a platelet count of two. It was somewhat distressing and I pay tribute to Dr Benson and his team at the Belfast City Hospital for the care and treatment they gave me over my eight days in hospital and to Dr Paul Grimes, our resident medical practitioner, and Professor Adrian Newland for their explanations, which helped me to understand my condition.

Patients with a severe disease live permanently with the risk of a major, life-threatening event. However, even those with moderate forms of this disease are not free; they have many risks. We are told not to play contact sports; advised not to fall down and hit our heads; advised not to have a car crash. I am afraid I did not heed the last one. Coming out of hospital, my wife took me to Sicily to recuperate. We spent the first two days beside the pool and it was wonderful. On the third day, I hired a car. On the fourth day, I wrote off three cars and ended up in hospital in Palermo. Up to one-third of patients will also complain of crippling fatigue as part of their disease process, which again impacts on their day-to-day life.

In the majority of patients there is no known cause that can be treated and, in general, treatment has been aimed at reducing the rate at which the platelets are destroyed by the antibodies produced as part of the autoimmune process. Traditionally, treatment has relied on the use of steroids to dampen down the immune process. These have well recognised side-effects causing mood change and weight gain: I gained 20% of my body weight while I had this. There are other side-effects: diabetes, osteoporosis, cataracts and an increased risk of infection. Patients tolerate but rarely like taking these steroids. For those many who fail to respond to this initial approach, further treatment options have in the past been fairly limited, involving either major surgery to remove the spleen, which in many patients is where the platelets are destroyed, or using drugs to suppress the immunity. These latter are the same drugs as those used to treat cancer, with the known problems that they can cause. Both these approaches increase the risk of serious infection and we know that as many patients may die of infection as a consequence of the treatment as from the bleeding caused by the condition.

Over the last 10 years, doctors have come to learn much more about the background of the disease and are developing treatments that are much more targeted and without the general side-effects I have mentioned. A particularly successful recent development has been the introduction of a class of drugs known as thrombopoietins. These are hormones that stimulate the body to produce more platelets, mimicking the body’s own natural process. They have been shown to be successful in over 90% of patients who have been given them, without the impact on infection seen with other more traditional therapies. In addition, up to a third of patients appear to be able to stop treatment eventually, while maintaining a normal platelet count, which is a major bonus. However, there are two drugs available in this class and both have been reviewed by NICE. Although it has recommended them, it has placed significant limitations on the use of the drugs, which have been open to differing interpretations by commissioners around the country. While some have been very open in allowing usage for patients in need, others have expected patients to go through, and fail, the conventional options before being given this new treatment. This is purely for financial reasons. It exposes patients to unnecessary risk and has led to a postcode lottery of prescribing of the worst kind. These drugs are only the start of a number of existing agents currently being developed to target the specific underlying abnormality in the immune system. They will benefit patients with not only ITP, but other similar autoimmune diseases.

Like many rare conditions, ITP is not an obvious target for research funding. This has hampered both basic research into the condition and clinical studies to investigate treatments. It has fallen to the pharmaceutical industry and groups such as the ITP Support Association to support this crucial work. Here I declare an interest as a member of the association. I shall finish by saying that we would like to see more support from the NHS and the national research funding bodies being channelled into research on rare diseases which, although small in number, can have a devastating effect on many people’s lives.