Rare Disease Day 28th February 2019 at the House of Commons

Gary and Myra Tipping attended Rare Disease Day at the House of Commons on a lovely sunny day on 28th February. It was a very successful and well attended event.

Catherine West MP was the first speaker and she welcomed everyone. She explained that there are over 6,000 rare diseases and that 3.5 million people in the UK will be affected by a rare disease at some point in their lives. It takes on average 4 years, 5 doctors and three misdiagnoses before a correct diagnosis is reached.

Baroness Nicola Blackwood, the minister in charge of rare diseases, announced the development of a national genomic healthcare strategy to ensure that rare disease patients are diagnosed accurately, quickly and with access to better treatment and care. She said it is hoped that the UK would become a world leader in genomic healthcare. Dr Jayne Spink, Chair of Rare Disease UK welcomed the commitment from Baroness Nicola Blackwood and expressed a readiness to develop this strategy to improve access to genomic advances and research into rare genetic conditions.

We all watched a YouTube video by Ian Marsden, Paralympic Medalist. He talked about his own inspirational experience of rare disease. Mishal Dattani, a patient with a rare liver condition, also spoke of his personal experience of living with a rare disease.  He talked about his difficulty in being correctly diagnosed too.

It was a great opportunity to talk to others with rare disease and share experiences.  We  caught up with Tess Harris from the Cilopathy Alliance, an organisation that promotes research into ciliopathic disease, including PCD. We also met among others, Deo Chummuna, from Disability Living. He is a psychotherapist, who works with patients with rare disease and has one himself too.

It was a great day for rare disease and attended by MPs from all parties.