Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects approximately 1 in 6,000 people, manifesting in a wide range of physical and neuropsychiatric symptoms. For the estimated 600 individuals living with TSC in Ireland, managing this condition requires lifelong care across multiple healthcare specialties. However, a new study led by our PhD student, Mary Vasseghi, has revealed significant gaps in how this care is provided, highlighting the urgent need for a more coordinated approach. 

Published in the Journal of Rare Diseases, this study marks the first national clinical audit of baseline TSC care in Ireland. It was made possible through the collaboration of Advanced Nurse Practitioners (ANPs) nationwide, a connection established by our PhD student Claire Behan, with the crucial support from our Principal Investigator Prof Colin Doherty. The audit, which encompasses both adult and pediatric epilepsy services, reveals a fragmented care system lacking formal TSC clinics or networks to deliver internationally recommended care for this complex, multi-organ condition. 

Fragmented Care: A Struggle for TSC Patients 

The study exposes a disjointed care system, leaving patients and their families to navigate their own complex healthcare journeys. Although necessary medical specialties and technologies like MRI are available, long waiting times and poor communication between services have led to a patchwork approach to care. This is not only stressful for patients but also poses significant safety risks. Mary Vasseghi, who has a personal connection to TSC through her daughter, understands these challenges first hand. 

“Patients often have to attend multiple appointments across different hospitals, track down test results, and manage their care without the expertise needed to do so. It’s a nightmare, and it can have serious, even life-threatening consequences. My own daughter, who has TSC, has experienced gaps in her healthcare that left her ‘falling through the cracks,’” Mary explains. 

Meeting Prof Doherty highlighted the urgent need for an internationally recognised standard of care.  

“Colin’s dedication to TSC research was evident long before we crossed paths, but securing the necessary funding had always been a challenge. His mentorship has been crucial in bringing this project to life,” she adds. 

A Path Forward: Recommendations for Better Care 

The study’s findings point to the necessity of establishing a TSC Centre of Excellence in Ireland, which would include appointing a dedicated TSC coordinator. This role would be essential in ensuring that patients receive continuous, personalised care as recommended by international guidelines, helping to alleviate the burden of care coordination from patients and their families. 

“Creating a coordinator post is the first and most important step,” Mary emphasises. “This person would be the central point around which a network of expertise could be built, ensuring that patients receive the right care at the right time. It’s a simple solution that could significantly improve patient safety and quality of life.” 

While recent years have seen progress in TSC management, including new pharmaceutical treatments, early diagnosis and coordinated care remain crucial for maximizing these advancements. 

Looking to the Future: Closing the Gap 

Ireland’s approach to TSC care lags behind other countries with established centres of expertise, including the UK, USA, Australia and several European countries. These countries provide a model for how coordinated care can vastly improve outcomes for people living with TSC. 

Mary’s next steps include publishing interviews with patients and healthcare professionals to further illuminate the challenges of fragmented care, raising awareness about TSC, and advocating for its inclusion in medical curricula. Their primary focus remains on pushing for the official appointment and funding of a TSC coordinator —a move that could bring about a much-needed transformation in the care of TSC patients in Ireland. 

“We have the medical expertise and technology; now we need to integrate them around the patient, treating them as a whole rather than through separate systems. This change could make all the difference for those living with TSC” Mary asserts. 

This research underscores the power of collaboration, blending patient insights with the specialised knowledge of a network of ANPs. It reflects our commitment to prioritising patient needs in our work. We look forward to the next phases of Mary’s research and the positive impact it will have on the TSC community.