Health: Rare Diseases

Baroness Bottomley of Nettlestone Excerpts

Tuesday 3rd March 2015 Lords Chamber

[Baroness Bottomley of Nettlestone (Con)]

My Lords, I warmly congratulate the noble Lord, Lord Turnberg, on securing this debate on a critically important subject and one in which I know he has taken a long-term interest. His comments are very much top-down; I am going to speak more from the bottom up. I think my noble friend Lord Howe has been quite an exceptional Health Minister, with a mixture of principle and pragmatism, and the UK Strategy for Rare Diseases is a remarkable document. It is a vision. It is not all in place in practice but the focus is on patient involvement, patient groups, empowering patients, ensuring patients are listened to, personal care plans, specialised clinical centres, education, training and research. These are the elements of where we hope to arrive.

I take two examples. In 1980, in my former professional life, I was incredibly proud to have an article printed in the Journal of Child Psychology and Psychiatry on the management of families with Huntington’s Chorea. It was a case study to illustrate some recommendations. With the psychiatrists at the Maudsley, where I worked, I had been working with a family affected by Huntington’s disease, as it is now called. They faced a very bleak future. There was little support and little identification. It is quite extraordinary the changes that have taken place over the years. Our basic thesis was that the children in a family always know if there is a secret and if you listen to them, they know what the problem is, and you have to talk to them about Huntington’s disease. Recently, the Huntington’s Disease Association, a magnificent patient group—of the kind that has developed in so many areas and quite remarkably in this country for so many conditions—has produced wonderful guidance about talking to children about Huntington’s disease.

On the MRC, we campaigned to get the human fertilisation legislation through. That was the first Bill that I handled as a Health Minister. Earlier this month, we heard that baby Amelia had been born, through IVF, free from Huntington’s disease. It is an incurable condition which parents have a 50% chance of handing on to their children. Therefore, that is an example of remarkable progress.

However, I want to draw my noble friend’s attention to a totally different condition: lymphangioleiomyomatosis —LAM. This is a wretched condition. Huntington’s disease affects 120 people in 1 million; LAM affects about seven in 1 million, so it is a very unusual condition. I want to talk about Amanda Simpson, a brave young woman from the Isle of Wight. She had chest problems and went to the hospital, where they told her that she had pigeon fancier’s disease, ME or emphysema. She was not happy. In fact, she was miserable because nobody had recognised her condition. Nobody knew what it was. She had two young children. Was it depression? Was it lethargy? However, she felt bad.

She then secured private funding to get a second opinion in Southampton and was referred to a centre in Nottingham, where LAM was identified. It is a pretty wretched chest condition creating cysts, which sometimes lead to non-malignant tumours on the kidney. The prognosis is poor. Fortunately, there is now a drug called sirolimus, which seems to address the problem. However, there are only 200 patients with this condition in the country, so Amanda has not had a care plan. LAM Action is a very small support group. I want to read from her comments. Having been referred to a specialist consultant from the Isle of Wight, she says:

“In a nutshell he told me I was a … hypochondriac and the problems were probably down to stress. I remember going home in tears feeling that no one believed me”.

After she went to the private specialist, she at last felt that she knew she had some reliable information. She continues:

“The next few days proved really challenging. I read up all I could and felt that in essence my world had come to an end. The prognosis wasn’t great and doing a self diagnosis on the internet threw up more questions than answers. I had extensive scarring of my lungs with cysts which were getting worse. My efficiency had fallen to nearly 40%, there was no known cure for the disease and I had two children under three. It all seemed so unfair. I had finally got my life on track and then this was thrown at me. The next six months proved really difficult. All the data I could get was not very helpful and there is a real shortage of any kind of support for”,

LAM. She goes on:

“The counsellors I did speak to seemed unable to grasp the situation and to all intensive purposes they were pretty useless”.

Finally, she was referred to Nottingham. I know of services provided at the Brompton hospital, the Heart Hospital and other specialist centres, but at Nottingham, with Professor Simon Johnson, professor of respiratory medicine, at last she had somebody who understood the whole subject. His wife, Jan, has set up LAM Action, creating a support group, and encouraging and promoting research. Amanda has been put on to the new drug, sirolimus, which only 30 people in the country are receiving, and it is having a beneficial effect on her. Even so, she has to get from the Isle of Wight to Nottingham, where she stays for three days at a time. There is no financial support. Now, her teeth are deteriorating, and she has to go to Winchester. Nobody understands all this.

In comparison, associated with cancer are Cancer Research UK, Macmillan Cancer Support and Marie Curie. People know and understand about cancer; they are sympathetic. Most people think that Amanda is a hypochondriac. They do not know what she is talking about and there is precious little sympathy or concern.

I want to make that contrast because of the change that I have seen in my lifetime in the approach to Huntington’s disease—its recognition and people’s understanding of it. There is a whole cohort of regional support advisers to help families and a very effective patient group recognised by the National Health Service. There is a clear pathway for this disease, and now there has even been a breakthrough with a family producing a child free of the affected gene. As the noble Lord said, there are 8,000 rare diseases, but I wanted to take this opportunity to identify the condition that had particularly come to my attention.

I want to say in passing that the new proposals for the tariff system and for the changes in commissioning for rare diseases need to be addressed in such a way that in time it will be possible for people suffering from LAM at least to get the recognition that is given to sufferers of some of the other more prevalent rare diseases.