On the occasion of International Neonatal Screening Day (INSD) 2024, the European Haemophilia Consortium (EHC) joins the Screen4Rare initiative in celebrating the importance of neonatal screening for those living with a treatable rare disease.
Available scientific evidence from worldwide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life-changing and even lifesaving. Neonatal screening for rare diseases could save globally more than 100,000 newborns from death or life-altering illnesses each year.
A survey recently presented by Rare Barometer (a EURORDIS global survey initiative available in 23 languages) and Screen4Rare, confirmed that the concept of newborn screening is widely accepted among the rare disease community, considering the direct experience of people living with a rare disease and their close family members. Getting an early diagnosis is key as it allows families to plan for their child’s care and treatment. These insights will valuably contribute to the development of newborn screening programmes across Europe.
However, despite its undeniable importance, only 1 in 3 newborns worldwide undergo any form of screening while many infants are only screened for a limited number of conditions. There is an urgent need to ensure equitable and quality access to neonatal screening globally and help make best practices become common practice.
The International Neonatal Screening Day is a collaborative effort between the European Society for Immunodeficiencies (ESID), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the International Society for Neonatal Screening (ISNS), which have joined forces through the Screen4Rare initiative.
INSD is a great opportunity to raise awareness about the importance of neonatal screening to speed up the diagnosis and treatment of rare diseases throughout the world. Let’s work together to ensure that every newborn receives the necessary screenings for a healthy start in life!
Download the Screen4Rare infosheet on why newborn screening matters here.
What is Screen4Rare?
Screen4Rare is a multi-stakeholder initiative aimed at highlighting the significance of neonatal screening for newborns. Through policy engagement, the group’s ultimate objective is ensuring that all babies can have equitable access to newborn screening – a life-saving tool for conditions such as rare diseases.
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.
