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Beyond awareness: Driving progress on the Rare Disease journey

ICON employees share their experience with Rare Diseases

Rare Disease Day is held every year on the last day of February, meaning every four years it falls on Leap Day. Rare Disease Day aims to raise awareness for the more than 300 million people globally that are living with a rare disease. The US definition of rare disease means that it impacts less than 200,000 people and there are currently more than 10,000 known rare diseases with more discovered every week and only about 5-10% of these have an approved treatment. This is a critical unmet need for patients and for many, clinical trials are their only treatment option.

The rare disease journey

If we refer to typical patient disease experiences as journeys, rare disease experiences are an odyssey. They are incredibly difficult to diagnose and it often takes 5-7 years from when individuals seek medical help until their official diagnosis. Raising awareness through events like Rare Disease Day will provide more exposure to healthcare providers and hopefully reduce diagnosis timelines for people suffering. 

Once diagnosed, the treatment pathway can be long and full of false starts and the experience of a rare disease can be isolating in itself. Patient advocacy organisations (PAOs) are a key resource for people living with rare diseases and their families as they are a trusted source of information. PAOs are also an important forum for sharing experiences between patients and families as well as with doctors, hospitals and clinical trials to help advocate for the unique unmet needs of this community.

In their words: Laura-Jayne Turnbull, Project Associate

After months of testing and doctor’s visits to address my inability to retain fluids and vitamins that resulted in extremely blurry vision and unsteady gait, I was diagnosed with Wernicke’s Encephalopathy (WE). I developed WE after an operation – the chances of which were only 1.4%. The disease is primarily found and researched among long-term alcoholics in relation to the thiamine/B1 deficiency which causes eye nystagmus (rapid involuntary vertical and horizontal eye movements), ataxia (unsteady gait), and confusion. 

The treatments did not sufficiently reduce my symptoms though it raised my thiamine levels. After visits to an orthoptist and ophthalmologist, a batch of tests including an electroretinogram, MRIs, and a lumbar puncture, the neurologist came up with a plan to try and slow my nerves with medication. Working at ICON shows me the importance of work in rare disease and helps bring us one step closer toward a better quality of life or an overall cure and can help prevent others from suffering the complications that I have faced.

In their words: Sophie Lim PMP, Project Manager II, Laboratory 

My dad was diagnosed with Multiple System Atrophy (MSA) in 2019, making ‘rare disease’ a personal reality. MSA can present similarly to Parkinson’s disease, with tremors and stiffness, and it advances rapidly, stripping away physical abilities and identity while adding emotional strain for the affected person and their family. 

Our family's routine was rewritten around his needs, doctor's appointments, and research on treatments that were frustratingly limited. It's a peculiar kind of pain to feel so helpless, to watch someone you love fade in slow motion, and it's a journey that countless families understand intimately. The ripple effect of his diagnosis was felt throughout our circle of friends and community. The isolation can be profound. Not many people know about these diseases, and that ignorance is its own kind of barrier. Many didn't know how to help or even understand what MSA was. We found ourselves explaining, educating, and sometimes, just trying to smile through the complexity and heartache.

Living with rare diseases requires a kind of courage that I never knew existed. My dad's journey has been a lesson in true resilience. It's about facing each day with hope, despite knowing what the disease may bring. And for me, it's been a realisation of the strength we possess as a family, the importance of community, and the critical need for awareness and research for rare diseases.

Beyond awareness: Leading Rare Disease development

ICON is leading the way in rare disease clinical development and is working to alleviate the challenges rare disease patients face. We have conducted 779 rare disease studies in the last five years, enrolling over 24,000 patients into clinical trials which provide both a means for developing new drugs and a treatment option for patients currently suffering from the disease. Rare disease trials differ from traditional trials and require additional design and operational considerations to reduce enrolment burdens, including the use of historical control arms instead of placebo controls. 

ICON’s Centre for Rare Diseases (CfRD) team is a dedicated group of experts in this space, providing sponsors with collaborative support across the development lifecycle, from trial strategy and protocol design to global regulatory and patient advocacy strategies. We have participated in the pivotal studies that led to the original and/or supplemental market approval of 60 rare disease products and are dedicated to not only raising awareness for rare disease, but developing meaningful therapies for those most in need. 

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