This blog is a collaboration between two engaging contributors: Maddie Collin – Patient Accelerator Coordinator at Aparito and Lucy Dixon – Chair at Primary Ciliary Dyskinesia (PCD) Family Support Group.
As a rare disease patient myself, I know how vital patient advocacy is. I was diagnosed with Type 3 Gauchers Disease in 1996 at 17 months, and since then, my life has changed dramatically. I went from feeling very lost and lonely as a child, in a world where no one understood my condition, to make it my life’s ambition to prevent future generations of rare disease children from feeling the same.
Since I started working in the rare disease space, the community has gone from strength to strength; patients are better educated, awareness is increasing, and individual patient needs are being listened to now more than ever before. Physicians especially are starting to recognise the holistic needs of patients. For example, mental health has moved up the agenda and patients are beginning to access mental health services as part of their routine care, which I believe would not have been possible without the hard work and dedication of patient advocates.
Although it is crucial to recognise how far the rare disease community has come over the past decade, it is equally essential to look towards the future and think about further improvements, and this is why I believe the work of Aparito is so essential.
Projects, such as the Patient Accelerator Programme, enable the voice of patients to be heard in new and exciting ways and in different spheres such as clinical trial design, which I think everyone can agree is crucial for rare disease patients across the globe.Maddie Stoodley, Patient Accelerator Coordinator at Aparito
The PCD Family Support Group are absolutely thrilled to have been selected as part of Aparito’s Patient Group Accelerator Programme.Lucy Dixon, Chair at Primary Ciliary Dyskinesia (PCD) Family Support Group
Primary Ciliary Dyskinesia (PCD) is a relatively rare, chronic, genetic disease that affects the respiratory system (lungs, sinuses, ears) and fertility, and is often likened to Cystic Fibrosis because it shares similarities in aspects of care, such as a high treatment burden (including chest physiotherapy) and repeated respiratory infections. PCD has historically been treated by medical professionals with specialisms in both disease Cystic Fibrosis and PCD, however this is a very different disease in so many ways to Cystic Fibrosis and we have different challenges facing our patient community.
As a community we have followed the rapid developments in the CF world with awe, though I am sure many people with rare diseases will relate to the feeling of ‘being on the outside looking in’ on the advances being made in more prevalent conditions. I certainly have, and so as someone with PCD myself, I have become increasingly jealous of many of the trials that are going on in the Cystic Fibrosis community at the moment, such as Project Fizzyo and Climb CF.
Our small community has been disproportionately affected by the Covid-19 pandemic, with all adults and some children remaining on the shielding list. What’s more, with most face-to-face clinics moving online overnight, we are acutely aware of the need to plug the gap between sporadic appointments and monitoring the day-to-day lived reality of having PCD, especially if we are to move to a more blended future between in-person and online medical care.
The PCD Family Support Group believes there has never been a more important time to explore the potential that tech and digital monitoring could have for the long-term management of PCD.
We are so pleased that Aparito are giving the PCD Family Support Group the opportunity to co-develop a technical solution to better managing this rare and multifaceted condition and we look forward to taking patient empowerment and disease monitoring to the next level.Lucy Dixon, Chair at Primary Ciliary Dyskinesia (PCD) Family Support Group