People living with ultra rare bleeding disorders are still in an extreme vacuum with lacks of information about their condition and treatment options. They may also carry the heavy burden of isolation and loneliness in terms of their inclusion in the bleeding disorder community. For all these reasons, the EHC decided to work on a better inclusion of people with ultra rare bleeding disorders by creating the European Rare and Inhibitor Network (ERIN).
As part of ERIN’s commitment to be representative we are hosting a series of conversations with patients in the community with extremely rare bleeding disorders.
1st Episode
On March 1, 2024 it was Glanzmann’s Thrombasthenia Awareness Day, so we chatted with Quinn Kennedy, a wonderful young man and patient with Glanzmann’s Thrombasthenia to hear about his lived experience, and share some inspiration for those living with this one-in-a-million disorder.
Grab a coffee and listen to Quinn’s inspirational story here!
2nd Episode
For this second episode of the EHC ERIN Podcast, we had the pleasure of chatting with Natalie Lawson, Haemophilia Nurse from the United Kingdom, and Stacey McGeown, a parent from Northern Ireland, to discuss their experience of working and living with a rare bleeding disorder. Our sincere thanks to both Natalie and Stacey for sharing their experience so candidly – we split our conversation into two parts!
Jim is aged 66 and has Haemophilia A with a high titer inhibitor which he developed at age 14.
Maria Elisa Mancuso (MD, PhD) is a Haematologist and works as a Senior Haematology Consultant at the Center for Thrombosis and Haemorrhagic Diseases of IRCCS Humanitas Research Hospital in Rozzano, Milan, Italy. She is Adjunct Clinical Professor at Humanitas University. She obtained a post-degree in Clinical and Experimental Haematology and a PhD in Clinical Methodology. She is involved in clinical research and has published several original articles in peer-reviewed journals a The Lancet, Blood, Journal of Thrombosis and Haemostasis, Haematologica, Thrombosis and Haemostasis, British Journal of Haematology and Haemophilia. She is reviewer for several peer-reviewed journals and member of the Editorial Board of JTH. She is a member of several scientific societies (ISTH, WFH, ASH, EAHAD, SISET, AICE) and was a medical member of the Inhibitor Working Group of the European Hemophilia Consortium. She is co-chair of the ADVANCE Study Group. She has acted also as co-chair of the Scientific and Standardization Subcommittee of ISTH on FVIII, FIX and rare bleeding disorders. She has been involved as principal and co-investigator in several clinical trials, and she takes care of both children and adults with hemophilia and other congenital bleeding disorders with a specific scientific interest in novel therapies, prophylaxis, inhibitors, and chronic hepatitis C.
As a patient with factor II deficiency, the diagnostic and treatment of rare bleeding disorders is a matter dear to my heart. My motivation to participate in the work of the ERIN committee is to improve both diagnostic and treatment for patients with rare bleeding disorders across Europe.
Economist and financial expert by profession, executive coach and trainer by passion and haemophilia advocate by every drop of my blood through my son (who has severe haemophilia A with inhibitors). Bringing a good decade of practical experience from the corporate insurance world, laser focus, growth mindset and resilience from my own experience, offering you anything I can just do, in hope that together we can make life more fulfilled for those impacted by bleeding disorders.
Amy Owen-Wyard is a Registered Mental Health Nurse. With experience working with children, young people, their families and adults with severe and enduring mental health conditions. Amy was also involved in a service improvement to provide a holistic care approach for those in general hospitals to support both their mental and physical health, whilst sharing her expertise and knowledge in mental health with the wider multidisciplinary team.
