Medical Research: International Rare Diseases Research Consortium

Lord Cotter Excerpts

Thursday 28th February 2013 Lords Chamber

[Earl Howe]

My Lords, the funding for expensive treatments will be very much the responsibility of the Commissioning Board. However, of course the noble Lord is right, because a patient with a rare disease will need to be treated along a pathway of care, some of which will be specialised and some of which will be more routine. It is therefore important that we build into our UK plan for rare diseases an awareness of that pathway so that this is a seamless process. The commissioning must be joined up between the board, clinical commissioning groups and, indeed, local authorities that provide social care.

[Lord Cotter]

My Lords, I thank my noble friend the Minister for his interest in rare conditions. I declare an interest as my wife, like many others, has suffered from birth from arthrogryposis, a neuromuscular condition. She received a correct diagnosis only at the age of 52 years. Even now, in her 70s, she is struggling to receive appropriate treatment. Would the Minister consider seriously Rare Disease UK’s recommendation for designated care co-ordinators to oversee the situation to ensure consistent treatment and to provide single oversight to help patients and to avoid wasting resources and duplication within the NHS?

[Earl Howe]

I am grateful to my noble friend and I extend my sympathies to his wife. Unfortunately, with many very rare diseases, it often takes a great deal of time for a fully fledged diagnosis to be arrived at. I welcome the suggestion put forward by Rare Disease UK for co-ordinators and we will certainly look at that idea positively. I can tell him that the imperative to look at rare developmental disorders in children is the focus of a project that the NIHR and the Wellcome Trust are funding through the Sanger Institute in Cambridge. Scientists are analysing the genomes of 12,000 children with developmental disorders who could not be diagnosed following routine genetic evaluation. We are hopeful that that will produce some interesting results.