The Glasgow Rare Disease Showcase
Luckily, Glasgow welcomed us with open arms, and on the day itself, just under 80 people joined us to hear about the extensive work taking place in Scotland’s thriving rare disease community.
This was also our most ambitious event to date, with a jam-packed programme that included 15 speakers sharing their rare disease stories, and 14 patient group exhibitors promoting their fantastic work.
Programme and summaries
Dr Ewout Groen - Postdoctoral Researcher, Gillingwater Group, University of Edinburgh
In clinical trials, it was shown that spinraza significantly increased the overall survival rate of SMA patients, and for some older patients their motor skills vastly improved. Despite this breakthrough, there are still a number of challenges for SMA patients. In particular, Ewout highlighted how, due to the high cost of the drug, access to the treatment varies greatly between countries. In England, for example, access to spinraza on the NHS was rejected by NICE. In Scotland, however, the drug was approved by the Scottish Medicines Consortium, but only for very young patients with SMA.
Finally, Ewout discussed the lessons other rare diseases could learn from the SMA example. This included the benefits of selectively choosing patients to take part in research studies, which although may lead to a limited number of people involved in clinical trials, might result in higher chance of a successful trial outcome, resulting in treatments being approved for all patients.
Tracy Milne - Founder, Alfie Milne Lymphangiomatosis Trust
Over the next year, Tracy and her son navigated through the healthcare system, seeing numerous clinicians and having multiple tests – without ever being told the results – all while Alfie’s condition continued to worsen. After spending 12 months feeling ignored and frustrated, it was not until they returned to London that Alfie was admitted as an inpatient, hooked up to monitors, and Doctor’s began talking about treatment options. Having finally been taken seriously, Alfie spent two years undergoing chemotherapy and slowly started making improvements.
After her frustrating experience, Tracy decided she wanted to ‘take back control’, and set up the Alfie Milne Lymphangiomatosis Trust so that no other patients or parents would have to go through the same journey she had.
Tom Watson - Executive Vice President, Bionical
Tom discussed the milestones that have led to today’s position on early access, beginning with the 1980’s AIDS crisis. During the crisis, there were few treatments in the US for AIDS, despite these being available in other countries, and patients were left facing a ‘death sentence’. Many, therefore, took it upon themselves to go abroad and visit the countries where treatments existed and bring these back home. This eventually led to the FDA putting in place regulations to allow access to investigational treatments for patients in need.
As these treatments are still being investigated, early access and similar programmes have to be designed carefully and regularly monitored, as the benefits and risks to patients have not always been fully established. However, having patients on these schemes allow pharmaceutical companies to generate real-world evidence of a drug’s success, that can support clinical trial data, and lead to it being approved.
Finally, Tom finished his talk with a call to action, stressing the importance of including patients’ and patient carers’ voices in the discussions and setting up process of early access programmes.
Morven-May MacCallum - Lyme disease advocate and Author of Finding Joy
As time went on, Morven-May’s condition worsened, to the point where she could no longer remember her friends, or understand her surroundings, she struggled to speak, and would collapse when she returned home from school. By 16, Morven-May had already been misdiagnosed with glandular fever, a viral infection, and then a post-viral infection. At this point, due to constant exhaustion, she had to drop out of school, and her plans to attend university were cancelled. Morven-May was again misdiagnosed with ME and chronic fatigue syndrome, but luckily, her mother was a Nurse and she refused to accept these diagnoses were correct. Through her own perseverance, she discovered Lyme disease was the only condition which ticked all the boxes. Following another battle to be believed and taken seriously by medical professionals, she was eventually diagnosed with Lyme disease and related co-infections.
Although this was a breakthrough, she then had to begin treatment, which Morven-May described as being as cruel and brutal as the actual disease itself. The treatment caused her body to become essentially poisoned and she could no longer recognise her mother, or feed herself. This treatment took three months to complete, three months to recover from the side effects, and another three months to regain her ability to function. Over the past seven years, Morven-May has been through three rounds of this treatment. Lyme disease still dominates Morven-May’s life, but within the last year she has become a volunteer member of Lyme Disease UK, worked as a campaigner alongside MSP’s, presented talks on her experience, and published her debut novel, Finding Joy.
Martina Rodie - Consultant Neonatologist, Royal Hospital for Children, Glasgow
Of particular interest was the work taking place in neonatal care pathways. Currently, there aren’t many care pathways, if any, for babies with rare conditions, but The Office for Rare Conditions has designed a tool which looks at rare conditions and assesses what care pathways do exist, so that they can signpost parents in the right direction.