Rare Disease Tea Party 2019

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NSA Trusee Andrea Reid-Kelly reports on her visit to the Rare Diseases Afternoon Tea Party in London on Wednesday 10th July.

I had a great time! The event was organised by the British Paediatric Surveillance Unit (BPSU) to raise awareness of Rare Diseases and to promote networking amongst professionals and charitable organisations. There were key note speeches from Baroness Blackwood and Professor Jenny Harries, Deputy Chief Medical Officer for England, as well as presentations from a number of young people who had rare conditions themselves. It was also a lovely chance to catch up with Olivia Gordon and to find out how things are going with her book.

Baroness Blackwood is the Under Secretary of State for Public Health and has been diagnosed with a rare genetic condition herself (Ehlers-Danlos Syndrome). She spoke about her experiences of this condition and how difficult her path to diagnosis had been. She also outlined some of the difficulties she has experienced because of the lack of joined up specialist care. She explained that these experiences had highlighted to her just how essential the launch the National Genomic Healthcare Strategy is, saying
“We must bring an end to the diagnostic odyssey of rare diseases.”
The transcript of the speech she gave to launch the strategy, explaining more about what it is and why it is necessary can be found here

Other people who have rare conditions also spoke about their experiences and how these had shaped their perspectives about what they consider to be essential provision for young people with a rare condition. Katy Baker spoke about her life and experiences of having Scimitar Syndrome. She believes in turning every negative experience into a positive learning experience, has been the Chairman of her University Trampolining Club and was also studying for a Masters Degree, despite significant health complications. She also spoke about the impact that having Scimitar Syndrome has had on her mental health and how she feels strongly that the gap between the physical and mental health care given to people who have a rare disease must be bridged. A similar theme was raised by Laurence Woollard form On the Pulse Consultancy.

Laurence has Haemophilia and runs a consulting agency about this. He particularly talked about the need to support teenagers and young people, saying that “planning and active engagement in self care must be nurtured and encouraged.” He spoke eloquently of the urgent need for processionals to be supporting teenagers and young people citing the irreparable damaged caused during the teenage years once individuals who have haemophilia become responsible for their own self care if they don’t face up to doing this adequately.

Sarah Lippett had a long and complicated journey to the diagnosis of Moyamoya Disease that resulted in long hospital stays as a child. She is now a Graphic Novelist and has written a graphic novel about her experiences called “A Puff of Smoke” (the literal translation from the Japanese, ‘moyamoya’). Her talk was both moving and humorous as she told her story, illustrated by pages from her book. This would be a wonderful book for anyone to read, but most especially our young people who have NS and I am really looking forward to its publication in November this year. You can follow Sarah here if you are interested. I do think that Sarah’s book together with Olivia’s book would be terrific for the Noonan Syndrome Association community to read.

Nicola Millar, one of the Founders of the Rare Revolution, publishers of Rare Revolution Magazine, spoke about the focus and purpose of the magazine, raising awareness of rare conditions amongst professionals and society as a whole and empowering and enabling people with rare conditions. A young man named Cameron spoke about his experience of being one of the young people chosen to write and publish for the Rare Youth Project, explaining what a profound and lasting impact this experience had had on him.

There were also talks by professionals in the field of Rare Disease, including Dr. Lucy McKay and a medical student Bhawna Sharma from Medics4Rare Disease who spoke about her work to improve knowledge of rare diseases amongst medical students. Dr. McKay, CEO of Medics for Rare Disease, acknowledged the impossibility of knowing all there is to know about every rare disease by virtue of the fact that there are so many of them and that they are just what they say they are; rare. However, she pointed out that although rare diseases are individually rare, together they are common, (1 in 17 people at some point in their lives), and it is therefore vital that medics should have their mind open to them and be aware of how to find out more when necessary. Medics for Rare Disease has a good presence on social media platforms, including Instagram where they run #mysterydiseasemonday, in order to raise awareness of different conditions.

Helen Dollig spoke powerfully about work done in rapid genome sequencing in critically ill neonates and young children. She and her colleagues began fast tracking the genomic sequencing of intensively ill babies in the NICU and PICU and have found that, amongst these children, rare diseases are in fact extremely common. She feels that their study suggests that fast tracking the genomic sequencing of all critically ill children, so that their result come back within days rather than months, will result in significant improvements to their care and long term physical and mental health care outcomes.

The day was fuelled by cake, fruit and goats cheese tartlets and rounded up with a presentation of a research award to Dr Chenqu Suo of Addenbrooke’s Hospital who will be conducting research into a rare condition (which I can’t now recall!) as well as by a presentation by Professor Jenny Harries Deputy Chief Medical Officer for England. Dr. Suo had been prompted to learn more about this condition after being ashamed to tell a young patient of hers that she didn’t know anything about it. Her attitude and approach was so humble, warm and determined to know more that it was clear that she would work hard to be deserving of the grant, to the benefit of those patients who have the condition. Professor Jenny Harries thanked all the speakers for their inspirational talks and spoke eloquently of her hopes for the Public Health Service in England with particular relation to the care of those with rare diseases.

The BPSU has information on their site about previous Rare Disease Tea Parties and will be adding this years event to their website shortly. You can find information here

It was a fascinating day and I came away with a lot of hope for better joined up care and more timely diagnosis for those of us with a rare disease and our families as well as a strengthened belief that it is vital that the Noonan Syndrome Association must do more to support the youth in our community to be proactively engaged with their self care and self advocacy advocacy. It was also hugely clear from the talks throughout the day how vital it is that we look at the long term mental health and wellbeing of our community and that this must play as big a part of our work as the emphasis we give to our physical wellbeing.

I very much appreciated the opportunity to attend and gained such a lot from the experience…not least of which was a little bit of weight and perhaps some tooth decay!