Every year people from all over the word come together to celebrate Rare Disease Day. A day designed to raise awareness, bring together the community and to highlight some of the fantastic work that is being done in the rare disease area.
This year was the day’s 10th anniversary and focused on research and how it brings hope to those who have a rare disease. The AKU Society always endeavours to be at as many events throughout the UK as possible and this year was no exception. You can read where each member of the team was in the blog below.
Photo credit Barbara Asboth Photography/Findacure
Oliver & Ciarán
This year, Oliver and Ciarán travelled down to office neighbour Findacure’s 4th annual Rare Disease Day scientific conference. This was held at the impressive Royal College of Nursing on the 28th February itself and had the theme Drug Repurposing for rare diseases.The conference had 15 insightful speakers presenting about a myriad of fascinating topics, from updates on ground breaking research to the latest from pharmaceutical companies involved in the sector. Rick Thompson, Head of Research at Findacure, kicked the day off with a brilliant speech introducing the day and explaining the simple but potentially money saving
Social Impact Bond. One of the highlights of the day was an especially moving presentation from Friedreich’s ataxia patient Georgia Hart and her mum Bev. They spoke about Georgia’s diagnosis and the road to understanding the disease, along with their participation in clinical trials in the US. Findacure’s trademark 5-minute lightning talks were also a fascinating insight into ongoing research and the experience of patient groups in promoting research.
Overall, the day was an incredibly useful tool for Oliver and Ciarán and allowed them to learn about new research and to meet others involved in the rare disease research sphere.
Photo credit Barbara Asboth Photography/Findacure
Rory
On the 14th of February, Rory went to the Welsh Rare Disease Day reception at the Senedd in Cardiff. The event included an update on the progress on the Welsh government’s rare disease implementation plan, as well as information about Wales joining the 100,000 Genomes Project and how it will take an even greater focus on rare diseases moving forward.Rory particularly enjoyed a speech given by Lucy Dixon, a patient living with Primary Ciliary Dyskinesia (PCD). It was inspiring to hear about her symptoms, including bronchiectasis, reflux and chronic pain, and about how she had adapted her life to address them.
It was a wonderful occasion to meet health care professionals, along with rare disease patients and carers. It really helped to reinforce the rare disease community, to work towards the common goal of easing the problems of those affected by rare diseases.
Oliver
On Monday 27 February, Oliver attended the Rare Disease Day conference at Birmingham Children’s Hospital, organised in conjunction with the British Paediatric Surveillance Unit. Birmingham Children’s Hospital is one of the leading centres for rare diseases in the UK, and the day celebrated their excellent work, including the upcoming launch of the UK’s first ever Children’s Rare Disease Centre at the hospital later this year.
The day included talks from several world-leaders in rare diseases, including Cambridge University’s Prof Tim Cox (an advisor to our DevelopAKUre clinical trials) on how clinical trials must adapt to better suit rare diseases. The key note speaker was Ben Howlett MP, the chair of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions. He, along with many other speakers on the day, emphasised the importance of ensuring continued funding for existing care for rare disease patients and for the creation of more centres like the one launching in Birmingham.
Robin
On Wednesday 1st of March, Robin met up with AKU patient Maureen McClure and her husband Brian in Edinburgh to attend the Scottish Parliamentary Reception on Rare Diseases.The event began with an introduction from Bob Doris MSP, who will be co-convening the proposed Cross Party Group on Rare, Genetic and Undiagnosed Conditions. Bob praised the work done since the last Rare Disease Day Reception at Holyrood, highlighting the efforts undertaken by fantastic rare disease patient groups and the scientific community.
They then heard from Collette Thain MBE. Collette suffers from Primary biliary cirrhosis (PBC), a condition that caused her liver to fail whilst she was raising her two children. After being diagnosed with the condition she found that to her dismay there was little information in the public domain surrounding it. This motivated Collette to set up a support group for PBC patients, The PBC Foundation. Twenty years after its inception the PBC Foundation now provides a service to almost 10,000 members in 71 countries throughout the world. Collette’s story is all too familiar in the rare disease world. The lack of information about Rare Diseases like PBC really justifies why Rare Disease Day is so important.
Also presenting was Professor Stuart H Ralston from the University of Edinburgh. Professor Ralston gave a light-hearted speech that centred around the work he has been doing on the genetic basis of osteoporosis and other bone and joint diseases. He stressed the importance of continuing to educate people about rare diseases, with awareness playing such an important role not only in early diagnosis but in helping people understand what a rare disease patient has to go through.
The last speaker of the day was Rebecca Holmes. Rebecca suffers from Ehlers Danlos Syndrome (EDS), a multi systemic inherited connective tissue disorder where the structure or connective tissue is abnormal due to a gene mutation, or as Rebecca puts it ‘the glue that holds our body together doesn’t work properly’. Rebecca gave an emotional speech where she described the lengthy and painful process she went through before she was finally diagnosed with EDS. She urged the attendees to get involved with the Cross Party Group for Rare Diseases. Rebecca’s full speech can be found here.
The event was very inspiring and was an amazing opportunity to learn more about other rare disease patients and patients groups, as well as hearing from the scientific community and the progress they are making into treatments and research.
Nick
Nick Sireau, chairman of the AKU Society, gave a talk on the impact of research into rare diseases at the special event in Cambridge on rare disease day. He described the creation of the AKU Society and its early years raising funds for basic research and to carry out a natural history study in AKU patients. A strong link was established with the Royal Liverpool University Hospital and the University of Liverpool to carry out the research, which then acted as the centre of a major international hub for research into AKU. Overall, £20m was raised for research into AKU with the focus now on a phase 3 trial of nitisinone, a promising treatment for AKU.
Lesley
On 28th February Lesley attended the Rare Disease Day Parliamentary Reception at Westminster. The event was hosted by Ben Howlett MP, Chair of the APPG on Rare Genetic and Undiagnosed Conditions and attended by nearly 150 people including MPs and representatives from rare disease charities.The APPG on Rare Genetic and Undiagnosed Conditions launched its report at the event on the implementation of the UK strategy for rare diseases in England, ‘Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for rare Disease.’Ben Howlett opened the event by talking about the findings of this report and the lack of the implementation of the rare Disease Strategy in England. The strategy made 50 recommendations on improving standards of care, access to medicines, quality of life and working toward cures for rare diseases. Having already been implemented by the devolved nations Wales, Scotland and Northern Ireland in 2015, it is disappointing that four years on these recommendations have yet to be implemented in England. It was reassuring to hear Mr Howlett say that the APPG would continue to lobby the Government to finally implement the UK’s rare Disease Strategy in England.The next speaker was Nicola Blackwood MP, Parliamentary Under Secretary of State, Department of Health and the minister responsible for the UK Government’s rare disease policy. She talked about how she was diagnosed with a rare disease in 2013 after years of being misdiagnosed. She used her own experience to talk about the impact of delays in diagnosis for people living with a rare condition and how she will utilise her position as minister to work with patient groups and those living with rare diseases to improve the issues of misdiagnosis and ensuring the UK Strategy for Rare Diseases is implemented.Fiona Marley from NHS England talked about how access to treatments and medicines can change the lives of those living with rare conditions. She also talked about how valuable the voice of the patient and the public was in the work of NHS England.The next speaker was Sarah Stevens from Public Health England. She has been leading PHE’s work in developing a National Rare Disease Register. She talked about the importance of such a register in collecting data on rare diseases and how this can be utilised in helping people access clinical trials. She hopes that by 2020 all clinicians will have access to clear and accurate information on rare diseases.The final speaker of the day was Alastair Kent OBE from Genetic Alliance. He emphasised the importance of research and how together we can all make a difference to the lives of people living with a rare disease.
Overall Rare Disease Day 2017 was a great success and we look forward to the events next year.