Newsletter, Issue 24, June 2012
News from the Chair Submitted by Brian Sugden

Government consultation on rare diseases

In the last newsletter I indicated that we had tried to make contact with the Department of Health through my local Member of Parliament in order that we could discuss the effects of nail patella syndrome on patients and asked the NHS to review the way in which care was provided.

Philip Davies my MP contacted the Department of Health and the matter was passed to Earl Howe who was responsible for quality in the House of Lords to respond. He gave me a contact for the Department of Health which is responsible for coordinating the government's approach into the treatment of rare diseases.
I'm delighted to say that a major consultation process has been launched over the whole of the European Union into the treatment of rare diseases. As part of that process the four countries of the United Kingdom have organised a joint consultation which each of the responsible members have signed up to in full.

The consultation is a substantial document which runs to 23 sections each of which is two or three pages in length. The committee have submitted responses on behalf of NPS UK. In the process of doing so we have also managed to establish a contact within the Department of Health who is prepared to liase with us. She is considering introducing us to the appropriate medical team in order to discuss any matters which may require attention in the time period between the consultation process and the introduction of any changes to the method of producing healthcare.

As part of the executive summary which is the leader to the consultation paper they set out a consensus among experts and people with rare conditions which they have identified. They indicate that expert centres caring for people with rare and complex disorders must have the following characteristics:

1. coordinated care
2. adequate caseload for expertise
3. not dependent on a single clinician
4. arrangements for transition from children to adult services
5. engaged with people with rare conditions

I trust that all of our members will consider that these objectives are correct and should they be provided would massively improve the treatment of people with NPS.
At present there is no expert centre which deals with NPS and the NHS does not have a competent professional within each of its regional areas. The committee have argued that NPS fails to receive proper care as there is no expert centre and nowhere for GPs to refer to service providers.

Should the proposals set out in the executive summary come to fruition then this will change. It would mean that there will be an established service provider and that instead of NPS patients helping each other to understand what the symptoms and potential treatments are there will be expert opinion which will be coordinated by the NHS.

I do believe that this is a genuine attempt by the NHS to recognise the difficulties which ourselves and other groups with rare conditions face and to propose a solution to remedy those issues. I am delighted that this process has commenced but I'm also mindful that the time taken to move from the consultation paper to having expert centres established might be considerable. With that in mind we will endeavour to affect some measure of change in the intervening period and of course are encouraged by the fact that the main items which we have been trying to change have all been identified by the consultation process as necessary.
Many of the proposals covered in the consultation process have a common purpose with other genetic conditions. The committee did however make extensive proposals with regard to surgical procedures and the need to establish experienced surgeons with specific exposure to NPS in order that referrals can be made to them. We indicated that executive action will be required by the Department of Health as the way in which the process works at present is unlikely to generate a surgeon who wishes to specialise in this area. In a nutshell it is the consultants who decide which area they wish to specialise. Because NPS is rare there is little in the way of career prospects for specialising in such a restricted field. It therefore requires the Department of Health to establish a suitable caseload by combining similar conditions and enabling the skill base to be developed.

I indicated in the previous newsletter that this will be a long journey. I do however feel that this DHS initiative is a major step forward in delivering care to people with NPS.

As part of our endeavours we have been in regular contact with the NHS choices website to ask them to include nail patella syndrome. This is a very important website which is run by the NHS and is used by doctors to identify service providers for various conditions. It is essential that nail patella syndrome is included in this site. Our first approach to them was over a year ago and we were given an undertaking that they would consider the matter at the next rewrite of the site. We have consistently badgered them and after recent complaints I was told that their priority has to go to more common problems which come to their attention. One of the criteria which they use is the number of searches made on the website. I would therefore ask that each of you contact all of your friends and organise them to search the NHS choices website and simply type ‘nail patella syndrome’ into the search box on the front page and press the search button.
http://www.nhs.uk/Pages/HomePage.aspx

It is fortunate that we approached the department of health at the time that we did or we would not have had the chance to affect the process. I think that our members should however take great comfort that our UK representatives in the various devolved and central governments have placed focus on the treatment of rare diseases. It is nice to be able to report good news and I sincerely hope that these matters will be taken forward with some pace.

Brian Sugden
 
 
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