Rare Disease Day 2018, Scottish Parliamentary Reception

By Deborah Ogg

I was very excited to attend the Scottish Parliamentary Reception for Rare Disease Day. The reception was organised by Rare Disease UK / Genetic Alliance UK and the Scottish Cross-Party Group* (CPG) for Rare, Genetic and Undiagnosed conditions.

Although getting there, being there and recovering was challenging to say the least, it was very worthwhile. I was wearing two hats that evening, one for CSF leaks, the other for hEDS (Hypermobile Ehlers Danlos Syndrome).

While congregating in the lobby, there was a chance to meet and mingle with each other, share information and push our causes and concerns.

Having to lie flat in public spaces is very advantageous in engaging people’s attention and curiosity!

I was able to discuss CSF leaks and hand out our leaflets to many people before we were invited into the hall. Once in the hall, I was able to put our information leaflets and posters on tables provided and talk a bit more about our Rare Disease.

There were great speakers lined up:

Jayne Spink, Chair of Rare Disease UK and CEO of Genetic Alliance UK was able to explain the event, the organisation’s involvement and the support they can offer charities and individuals.

Professor Zosia Miedzybrodzka, Professor of Medical Genetics, University of Aberdeen talked of the 100,000 Genomes Project and NHS Scotland’s role in working towards genome testing in all rare disease patients. She talked of the strategies needed to make genome testing standard care in Scotland and expand other genetic tests to deliver personalised care. This is already planned in England and Wales, although in all of the UK it will be a long time before it’s realised and available.

Shona Robison MSP, Cabinet Secretary for Health and Sport was someone I was keen to hear from and to try to speak to afterwards as I know some Scottish Leakers have already spoken with her in the past. Unfortunately, she was regrettably unable to attend at the last minute which was a real shame for all. Maureen Watt MSP for Mental Health was able to stand in but it was disappointing to hear her speak of the need for a Government initiative ‘to help patients understand their diagnosis and treatments’ - unfortunately this was not received well at all!

The speakers who really made an impact were, unsurprisingly, the ones with the most experience of day to day life with rare conditions.

Arlene Smyth, Executive Officer, Turner Syndrome Support Society (TSSS) has a daughter with Turner Syndrome. She started TSSS in 1999 and has a wealth of experience and knowledge, not just about Turner Syndrome but in all aspects of raising awareness and lobbying for change where necessary. Her drive and passion extend to all those with rare conditions who need more support and better healthcare. Arlene understands the importance of coordinated care and is unrelenting in her drive to see Specialist Nurses for Rare Conditions in the NHS. She talked of what these nurses could offer in terms of information, reassurance, support and coordination of care for patients. They would be an invaluable lifeline and a value for money resource within the NHS. She intends to make this happen!

Professor Faisal Ahmed, Project Lead, Office for Rare Conditions (Glasgow)
It was refreshing to hear of this exciting new office to help diagnose and treat children with rare conditions. The professor was candid and spoke of how sharing of expertise between colleagues and coordinated care just does not happen and that there is little opportunity to do this currently within NHS set ups. He spoke of how colleagues were simply not aware of many rare conditions and that there were none of his colleagues present that evening. He highlighted the need to address gaps encountered by patients, parents and health care professionals at the coal face. The common issues being, to increase awareness (both public and NHS), support needed, clinical pathways needed, patient advisory groups needed and participation of patients in research.
The Office for Rare Conditions is aimed at addressing these gaps in expertise and care and could lead to similar programs around the UK.

Rebecca Pender, mother of Hannah who has a condition called Inverted Duplication / Deletion Syndrome 8p. There are only 65 registered cases worldwide. Although Hannah’s condition is extremely rare, Rebecca’s presentation was all too familiar to many ears. It was heart breaking to hear of the familiar struggles, doubts, battles, brick walls and absence of knowledge and care. Her honesty hit all of the audience and made a real impact on everyone. There were tears shed and hands over gasping mouths. Especially from those who don’t have direct experience of a rare condition, such as MSPs and councillors in attendance. Doctors and nurses were able to hear it again and the reinforcement worked. Her standing ovation was well deserved.

After the speakers there was another networking session and I had a chance to speak with some people from Genetic Alliance UK. They were very interested to hear of my own timeline of leaking and how I ran a crowd funding campaign to get treatment abroad. Even more so when I told them that many CSF leakers have paid for private treatment both in the UK and overseas. This may be something they follow up on… watch this space!

It was a great event and one which I hope to attend again.