Behind every one of the 300,000 people living with a rare disease in Ireland is a unique story, from the road to diagnosis to how they live their life today. As each person and family impacted by a rare disease knows, there are often huge emotional and financial impact on life that goes beyond the physical symptoms. This toll is even more staggering when you consider that just 5 per cent of the 7,000 known rare diseases have an approved treatment.
PTC Therapeutics is a global biopharmaceutical company dedicated to changing the course of rare diseases. With a 25-year heritage of pioneering innovative therapies for people living with rare diseases, PTC brings hope to patients and their families.
PTC’s international headquarters based in Dublin, is home to more than 60 employees who are passionately supporting patients around the world. Employees who make PTC’s work in Ireland possible, make a positive impact for global rare disease communities.
Áine was one of the first PTC employees hired in the Dublin international headquarters, and she’s loved it ever since. “I was excited about joining a young company”, she said, “and helping build something special rather than arriving in something already established.”
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She found it inspiring that during the hiring process “patients were truly an integral part of PTC’s culture. People were really keen to go the extra mile. I hadn’t seen that before, and it’s one of the reasons I’m still here”.
Áine oversees the quality of products manufactured, tested and distributed across global markets, from early-stage compounds for use in clinical trials, through regulatory approval and commercial launch. The main priority is to ensure that the patient will always receive safe, effective, quality drug products.
“The treatments we work on are life changing for our patients and their families and provide hope where often there is none, as in too many cases there are no other treatments available. Many of the diseases we are tackling are paediatric diseases, affecting children, so the impact we see is positive, both on the patients but also on their families. It is so rewarding to see patients progress when families share videos and pictures. It really pulls your heartstrings and reminds you why we do what we do.”
After a family friend’s child was diagnosed with a rare disease, Stephen knew he could use his career to help make a difference in his own way.
“I didn’t know what rare diseases were before my friend’s child was born. It opened up the box for me, and I recognised the needs of patients that weren’t being served. I saw what an uphill struggle it was for them from diagnosis to treatment. It was a pivotal moment for me and I felt motivated to start working in rare diseases.” Eventually, this led Stephen to PTC Therapeutics.
As a talent acquisition leader for PTC covering EMEA, APAC and LATAM regions, Stephen is responsible for identifying, attracting and recruiting people who share the company’s values, dedication and passion for purpose.
“The talent acquisition team is the gatekeeper of our diverse culture”, he said, “we need to make sure the people we hire are dedicated and motivated to make a change”.
And that goes beyond the ultimate goal of finding new treatments for rare diseases.
“Giving back to the community is ingrained in the PTC mindset, and we do contribute a lot to the wider community. Last year, we sponsored the International Powerchair Hockey World Cup, which was incredible to witness.”
PTC extends its care for the community by looking after their own. Stephen, who has special needs himself, is appreciative that PTC is flexible and able to accommodate those needs. He feels “a greater sense of belonging” and that he has found a workplace that listens, and puts in measures to help him feel comfortable, safe and helps him succeed.
For Sian, working so closely with patients means she feels a true sense of purpose in her job every day. As the patient advocacy lead, Sian engages with patient groups across more than 20 countries in the region, collaborating on initiatives to support patients and caregivers in their journey.
“Whether it’s just one patient in one country, or 20 patients in another country, every single person is important. It is a privilege to work with the team in the Dublin office because everyone is truly dedicated to providing the time, effort and commitment to ensure patients receive their treatment. Over and over, I’ve seen the team go above and beyond, finding innovative ways to serve our patients around the world. I really believe that everybody here is doing this because they care,” says Sian.
Sian said that working at PTC has allowed her to feel a deep connection with the patients and families living with a rare disease where PTC has developed a treatment or is working hard to bring new treatments to patients with an unmet medical need.
“You are closer to the patient in rare disease. A rare disease affects fewer than 5 people out of 10,000 so patients and their families can feel very isolated. Initial diagnosis may take several years and in many cases, there is no treatment available. Patients and their families are invested in creating better support networks, raising awareness about their disease and of course they are highly committed to finding a treatment. ‘’
Sian’s role ensures that the patient voice is incorporated in PTC’s work across the business such as clinical trial design, disease awareness and community engagement initiatives.
‘’Our goal is to make a positive difference through our initiatives for patients and families.’’
It’s Calum’s job to help ensure patient safety. Working in pharmacovigilance he leads a global team who collect and analyse safety data to ensure PTC’s treatments are safe and the company understands how they are being used in a commercial setting. Calum and his team are involved at every stage of the process, from early clinical trials until after a treatment has been approved.
“There are various strategies that we use to ensure patients, healthcare providers and administrators are educated on how the treatment is supposed to be used. These include patient information leaflets in the pack, and for specific medicines preparation of educational materials about drug administration and pharmacy manuals about drug preparation”. “It is important to continue to monitor how treatments are used after approval. It allows us to understand the treatment in a broader population. We ensure that there are processes in place to record any and all potential feedback from patients and physicians on the treatment”, he said.
Rare disease is an innovative space and regulations around new and growing therapies are evolving. Calum contributes to making sure PTC keeps up with regulations when it comes to monitoring the impact of therapies both in trials and in the real world.
“Pharmacovigilance is different in rare diseases. If you’re treating a disease where you only have a small number of patients worldwide, it becomes harder to evaluate the risks, so a lot of efforts are in the post marketing domain. More information is collected through registries and real-world studies. These registries which can go on for 10, even 20 years, become really important for patient safety.”
References available upon request. Find out more about PTC at www.ptcbio.ie