That is certainly a frustration for the many patients who suffer. I hope that the Minister will address progress towards the outcome that we would all like to see.
There are changes that patients can make to their lifestyle to help to manage the condition, including specific exercise programmes and altering their diets. It is also important for them to avoid being around second-hand smoke and other environmental pollutants, such as open fires, petrol fumes, paint, solvents and dust, and that they avoid coming into contact with anyone suffering from a cold or the flu. However, that is often not enough. There is a need for Government action. We would like the Government to look at the prescribed specialised services advisory group’s recommendations and address the specific recommendation for a national, highly specialised service for patients with severe alpha-1.
A Department of Health and Social Care paper sets it out that that service, referred to by Matt Western, should be operational by April 2019, which is only six months away. However, I understand that the formal development of the service has not yet commenced, and that it is highly unlikely that it will be operational by the original deadline.
The need for progress on the service forms one of the two principal objectives of the alpha-1 patient community, and I look forward to the Minister’s commenting on that. The second particular ask is to ensure that alpha-1 antitrypsin augmentation therapy—access to Respreeza, the only licensed treatment—will be available. I hope that the Minister responds positively to that.
It is the view of the alpha-1 patient community that the Government should focus on five key areas. The first is that that highly specialised service should become operational in a timely fashion. Secondly, patients should be involved at all stages in the development and implementation of the service to ensure that the patient voice is fully heard and taken into consideration. Thirdly, we are calling for a review of the impact of the NICE highly specialised technologies guidelines on patient access to rare disease treatments.
Fourthly, we are looking to apply a broader decision framework to the NICE process of evaluating the value of rare disease treatments, looking particularly at the social and societal benefits that impact patients and carers. Finally, we ask the Government to consider the appropriateness of introducing a more formalised process of conditional approval of rare disease treatments in England, such as alpha-1 augmentation therapy, as is being implemented in Scotland.
I shall conclude by referring to an email I received from a patient only yesterday that sets out her concerns with alpha-1 and its misdiagnosis. The sufferer emailed me to say that her mother died from antitrypsin deficiency, and that she now has the lung version of the disease. She is 48-years-old, and two years ago was a runner, but can now barely run for a bus or climb stairs. Her lung function has dropped dramatically in just one year. She is an ex-smoker and acknowledges the harm that smoking caused with respect to the condition. Had she been diagnosed earlier, she would have been able to make better lifestyle choices. The bit that got me was when she said that the deficiency for those who are symptomatic progresses at a very fast rate, and that, for many, it will end in gasping for breath for a long, drawn-out period, until such time as their lungs stop functioning completely. She says it feels like being eaten alive.
If the Government can work towards the two principal objectives and five key recommendations of the alpha-1 patient community, there will be a huge benefit to a significant group of people. It is our hope that the present and future needs of patients suffering this rare condition may finally be met.