Patient safety from the start
A BBMRI-ERIC story for
World Patient Safety Day 2025
By Mariangela Masiello, Michael Prattes, Bridget Sheehan, and Eleanor Shember, with contributions from the BBMRI community and the Stakeholder Forum - Patients and Citizens Pillar
Every child deserves safe, quality health care from the very start and infants and young children face especially unique risks. Their bodies are still developing, they rely entirely on adults and many experience added socio-economic barriers or lack access. When care isn’t tailored to a child’s needs, the consequences can be lifelong.
World Patient Safety Day 2025 focuses on protecting children from harm in health care. The theme 'patient safety from the start' calls for early, consistent action to safeguard children’s health and development. The World Health Organization (WHO) is encouraging everyone — from parents to policymakers — to take responsibility for safer paediatric care.
In this spirit, the BBMRI-ERIC community share stories of researchers, caregivers, patient organisations and biobankers working together to improve safety for young patients. Through better systems, informed staff and family engagement, the most vulnerable among us can be protected to build a safer, healthier future from day one.
About BBMRI-ERIC
BBMRI-ERIC is the European research infrastructure (RI) for biobanking and biomolecular resources, one of the largest RIs in the health and life sciences. Established in 2013, it encompasses over 400 biobanks, 21 member countries, and 5 observer countries including the global organisation IARC/WHO.
A distributed research infrastructure, BBMRI-ERIC successfully develops multidisciplinary expertise and implements cutting edge services for the biobanking community that includes clinicians, researchers, biobankers, industry, patients and citizens.
BBMRI-ERIC’s vision is that “by unlocking the potential of biobanking and biomolecular resources, BBMRI-ERIC inspires the best research to benefit patients, the public and the planet.” This is simplified as: “Biobanking for a healthier world”.
Safer healthcare for children begins with awareness
When it comes to patient safety, the main sources of harm are well-identified. These often involve medication mistakes, diagnostic errors, infections acquired during treatment, issues with medical devices like tubes or monitors and overlooked early signs of a child’s worsening condition. For children with rare diseases however, the experience can be isolating and discouraging as their conditions are often unfamiliar to many.
Our story begins with the patient organisations involved in the BBMRI Stakeholder Forum who are leading efforts to raise awareness of lesser-known illnesses.
Poland syndrome
For most parents, concerns about a child’s safety and well-being begin even before birth - and Daniela’s story is no different.
During her pregnancy with her second child, a baby boy, all of her prenatal scans appeared normal. That’s why she and her husband were shocked to discover at birth that the fingers on their baby’s right hand were missing. The initial shock quickly gave way to feelings of guilt -wondering if she had done something wrong - and uncertainty about how to move forward.
"I was prey to a feeling of guilt I could not rationally explain."
After multiple tests and doctor visits, the feelings of shame and worry mounted as healthcare professionals suggested Daniela was to blame. After a difficult ten days, Daniela and her family were finally able to find relief through a diagnosis - Poland syndrome.
Poland syndrome is a rare disease affecting approximately one in every 20,000 to 30,000 children. It is typically characterised by underdevelopment or the absence of the chest muscles on one side of the body and is often accompanied by abnormalities in the upper limb—most commonly on the right side. The exact cause of Poland syndrome remains unknown, though some researchers believe it may have a genetic component.
Despite the physical differences it can cause, Poland syndrome does not generally impair a child’s overall physical or psychological development. With appropriate therapy and training, even those with more severe cases can develop strong manual skills and lead active, independent lives.
The Italian Association of Poland Syndrome (AISP) is a non-profit organisation founded by patients and families with a shared goal: to raise awareness of this rare disease and to create a space where those affected can connect, share experiences, and access reliable information. Once Daniela received the diagnosis, AISP provided her with information and continued support. (Read Daniela’s full story here.)
Given the rarity of Poland syndrome, many families find themselves without the support they need - especially when it comes to understanding the condition and coping with its emotional and psychological impact. AISP offers a starting point: a place to find clear, accessible information and a sense of community.
AISP takes a holistic approach - extending beyond medical care to include psychological, social, educational and emotional support. Through association events, families can connect with a dedicated team of psychologists, educators and social workers who guide group discussions and offer personalised counselling.
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Photo by Aditya Romansa on Unsplash
Image courtesy of AISP: Event for children with Poland syndrome
Image courtesy of AISP: Event for children with Poland syndrome
Image courtesy of AISP: Event for children with Poland syndrome
Image courtesy of AISP: Event for children with Poland syndrome
Image courtesy of AISP: Event for children with Poland syndrome
Image courtesy of AISP: Event for children with Poland syndrome
Girls and women with coagulation diseases
While the history of haemophilia is well documented, it has traditionally centred on men and severe cases. Today, there is growing recognition that girls and women can also be affected. Despite this progress, diagnosis and treatment of girls and women is still insufficient. Continued research and advocacy are essential to improving outcomes in screening, diagnosis, treatment and bleeding prevention.
The Latvian Haemophilia Society (LHB) is one of 152 global patient organisations supporting individuals with congenital blood clotting disorders. Each year, they highlight issues related to access to proper treatment - this year, with a special focus on girls and women affected by bleeding disorders.
Bleeding disorders stem from the body’s inability to properly stop bleeding. Without diagnosis and treatment, they can lead to life-threatening complications - especially during childbirth and early childhood. Many women and girls remain unaware of their condition until a serious bleeding episode occurs, which can severely impact quality of life or even result in disability or death, making timely medical attention and accessible care essential.
For every man diagnosed with haemophilia, an estimated 1.56 women are also affected - often with milder forms but still with significant symptoms. In Latvia, only 5 of 124 registered haemophilia A or B patients are female. Therefore, the LHB is urging mothers, sisters and female relatives of haemophilia patients to take note of unusual bleeding and seek medical advice without hesitation.
To assist in this measure, the LHB has adapted an online Bleeding Assessment Tool (BAT). It helps Latvian patients, their loved ones, general practitioners and other healthcare professionals to assess bleeding symptoms in a structured way and identify potential signs of bleeding disorders with the goal of promoting awareness and early diagnosis.
Bleeding assessment tool
Bleeding assessment tool
Bleeding assessment tool
Bleeding assessment tool
Bleeding assessment tool
Bleeding assessment tool
From policy to practice
Ensuring safer care for newborns and children requires more than good intentions - it demands coordinated action. Governments, healthcare organisations, professional bodies, and civil society contribute significantly to developing and implementing sustainable strategies that prioritise patient safety within broader quality initiatives.
Our story moves from awareness to policy by highlighting organisations and projects within our community that closely collaborate with policymakers, medical professionals and stakeholders to drive real progress in paediatric safety.
“The unknown is an extremely hard period for parents of children with an unknown genetic condition, it can be very isolating. Being able to have an earlier diagnosis would mean getting the right support and the right treatment plan more easily.”
Newborn screenings
Image courtesy of EURORDIS
Image courtesy of EURORDIS
When a baby is born, they are welcomed into the loving arms of their caregivers and the watchful eyes of healthcare professionals.
After taking their first breath and perhaps letting out one big cry, they are whisked away for their checkup, something they will experience often in their first days of life.
Image courtesy of EURORDIS
Image courtesy of EURORDIS
One of the checkups done within the first 48 hours is called the newborn screening (NBS), a comprehensive process that begins with a simple blood test and, depending on the result, may involve further diagnostic testing.
A negative result indicates that the baby had a normal screening for the specific conditions tested and no additional follow-up is required. A positive result, while concerning, can enable timely confirmation and when possible, immediate treatment and management of the condition.
Image courtesy of EURORDIS
Image courtesy of EURORDIS
For people living with rare diseases, early diagnosis through the NBS is crucial. 70% of rare diseases appear during childhood, but symptoms do not always appear in the first days or months following birth.
Early intervention can help prevent the onset of disease symptoms or delay disease progression, improving the quality of life of the newborn and deriving benefits for the patients, their families and society.
“Hopelessness, lack of information, not knowing enough about the diagnosis, treatment options, support, indifference and ignorance from doctors and social assistance... I believe that any chance, even the smallest, to improve the information of patients with rare diseases and their relatives, would improve their lives.”
EURORDIS - Rare Diseases Europe, a member of BBMRI-ERIC's patient pillar, is a non-profit alliance of over 1,000 rare disease patient organisations from 74 countries that work together to improve the lives of over 30 million people living with a rare disease in Europe. A major pillar of their work includes advocating for harmonised criteria and adequate policies for newborn screenings.
Currently across Europe, there are major discrepancies between NBS policies and programmes. NBS programmes in Ireland, for example, include testing for eight conditions whereas in Germany there are 17 and in Italy there are 49.
In 2021, EURORDIS set out 11 Key Principles for Newborn Screening calling on European Union institutions and Member States to adopt these at the national level to frame policy discussions and developments of NBS programmes.
In addition, EURORDIS continues to listen to rare disease patients and understand their opinions on NBS programmes.
Through the Rare Barometer survey, EURORDIS found that more than 70% of participants wished their rare disease had been diagnosed at birth and 90% of respondents support newborn screening for any rare disease if it can lead to faster diagnosis, improved recognition of associated disabilities, or prevention of harm.
Julien Poulain, host of the EURORDIS Rare on Air podcast, discusses the results of the survey and speaks to Iuliana Dumitriu, President of the Coffin-Lowry Syndrome Association and mother of Victor, a ten-year-old boy living with Coffin-Lowry syndrome in Romania. Iuliana shared her family’s torturous, yet determined, seven-year journey toward receiving a diagnosis for Victor.
"For 7 years, we could not fight for a treatment, because we were fighting for a diagnosis (...) If my son had been lucky enough to have been screened at birth, and with his mutation in a place that could be found, as for many other Coffin-Lowry syndrome cases, it would have given him and our family 7 years back."
In another episode, Kirsten Johnson, Chair of both the Fragile X Society in the UK and Fragile X International, and Gulcin Gumus, Research and Policy Project Manager at EURORDIS, talk about the promise of newborn screening programmes across Europe.
"It's never easy when you have a diagnosis of whatever it is, whether it's a common or a rare condition (...) But knowledge is power and once you know what you are dealing with, it means so much can happen and support can be put in place."
“With early diagnosis, parents would be able to prepare for the huge challenges that await them if the child needs help for the rest of their life. They could receive up-to-date information about the expected development, possible cures or early development opportunities, treatments or institutional care. I would definitely support this because it would have been a great help to me in the last 24 years.”
Childhood, adolescent, and young adult cancer
Around 15,000 children under the age of 15 are diagnosed with cancer each year in Europe, including 350 in Greece. While over 400,000 children in Europe have survived cancer, two-thirds face lasting side effects from treatment.
The Hellenic Cancer Federation (ELLOK), a member of BBMRI-ERIC's patient pillar, is an organisation representing over 50 cancer patient associations across Greece. ELLOK advocates for policies, research, and the rights of patients affected by all cancer types – common, rare, and paediatric. In February 2025, the CAYAS working group was established focusing on childhood, adolescent, and young adult cancer with the aim of identifying needs and contributing to the design and implementation of health policies that will improve the care of young patients and support their families.
In addition to focusing on psychological support, specialised palliative care services and equal access for young patients and their families, CAYAS is especially concerned with the structured transition of care throughout childhood and into adulthood. In Greece, there is a major gap in care as children with cancer move into adolescence and adulthood with disruptions in continued follow-up and treatment. Establishing dedicated, well-staffed, units connected to paediatric oncology clinics is essential to ensure seamless, ongoing care during this critical stage.
Listen as Menia Koukougianni, Chair of the ELLOK WG on CAYAS, discusses their work.
Educate. Engage. Empower: Families driving safer care
When parents, caregivers, and children feel empowered, it creates a stronger and more vigilant support system around the child. Understanding potential risks and safety measures helps families better advocate for a child’s needs, recognise warning signs early and participate meaningfully in care decisions.
Next, we speak to organisations who are working to inform and engage caregivers and children to contribute to safer, more personalised care and better health outcomes.
Rare Diseases
The Latvian Alliance of Rare Diseases (LRSA), a member of BBMRI-ERIC's patient pillar, is an independent NGO which unites 17 organisations representing over 90,000 patients with rare diseases in Latvia at the national and international level.
A major pillar of LRSA’s work is providing educational materials and events focusing on the needs of rare disease patients, safety issues and active family participation in care. When it comes to children and families, LRSA has made a special effort to connect on their level.
The story of Merlin, the Little Feline (translated by LRSA from the original) follows a lion cub and his mother as they seek to find out why Merlin looks different than the rest of the pride. Children and their families can flip through the beautiful images and thoughtful storyline offering comfort and support as they navigate life with a rare disease.
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
© Fondation Ipsen, 2022
Sanita is a mother from Latvia whose six-year-old son has Angelman syndrome, a rare genetic condition.
He is non-verbal, has developmental delays, and needs help with every part of daily life, from eating to moving. Caring for him has changed Sanita’s life completely, but it has also inspired her to help others. She is now a board member of the Latvian Association for Rare Diseases, where she supports families like hers and raises awareness about rare conditions.
Sanita took some time from her busy day to share her story with us.
As we just heard from Sanita, for families battling a rare disease, a great deal of attention and resources are focused on caring for the sick family member, while others - siblings and parents - are often left in the background, their needs becoming secondary.
Respite for Rare Disease Families is an LRSA programme designed to provide moments of rest and quality time for families whose daily lives revolve around caring for a child with a rare disease, with siblings at the heart of its focus.
"This is a target group that is affected by rare diseases as much as the patients themselves. But there is no support. "
Siblings learn to be understanding and patient, but they are children themselves and it is important for them to also experience special moments with their parents.
In the summer of 2025, LRSA organised a five-day trip to a summer camp on the island of Ölan, Sweden to provide nine families affected by rare diseases with quality time together. The families, some of whom had never been able to go on a holiday before, caught up on sleep, embarked on group adventures, and most importantly, they broke free of their daily routines.
"These five days felt like five months. We experienced so many things (...) There were true laughs, true tears and true emotions."
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Image courtesy of LRSA: Respite for rare disease families camp
Biobanking with children
Biobanks play a key role in advancing paediatric research and improving medical care for children, especially those with rare or less-studied diseases. Despite the long-standing involvement of minors in research and clinical trials, the participation of children in biobanking has received relatively little attention.
In response, BBRMI-ERIC’s ethical, legal and societal implications team (ELSI) and patient organisations compiled resources and good practices for biobanking with children. It comes from research conducted by experts within BBMRI-ERIC's ELSI network examining best practices and engagement with young participants.
One of the key resources is a webinar detailing the regulatory backdrop, ethical considerations, data sharing norms, and children’s rights—designed to help both caregivers and children understand how samples and data are handled.
Through the combination of education, appropriate tools, evolving consent models and inclusive stakeholder engagement, the resources ensure parents, caregivers and children are not just informed - but actively engaged in safeguarding their own participation in biobanking. Such early and meaningful engagement helps protect the rights, well-being and safety of newborns and children throughout their care journey.
Listen to Dr. Zisis Kozlakidis, Head of Laboratory Services and Biobanking at the International Agency for Research on Cancer (IARC) and a coauthor of the research on paediatric biobanking for health, as he discusses why guidelines for paediatric biobanking are important for child patient safety.
Safer starts begin with stronger research
Research is central to patient safety in paediatric and newborn care as it provides the evidence needed to understand the unique risks and challenges young patients face.
Children are not just miniature adults; their care must be tailored specifically to them. They require treatment that matches their unique characteristics - such as their age, size, growth phase, health conditions, communication skills and individual circumstances.
Without solid research, patient safety efforts may rely on assumptions or adult-based practices that don’t fully protect children, potentially leading to avoidable harm. In short, research is the foundation for improving the quality of care, reducing errors, and ensuring that every child receives safe, effective treatment.
We turn now to initiatives with research at their foundation.
The LIFE Child Study
Tracking child development over time provides insights into how environmental factors and lifestyle habits impact the health of children and adolescents. Investigating these influences enhances our understanding of the origins of lifestyle diseases, improves early detection and leads to more effective prevention and treatment strategies.
The Leipzig Medical Biobank, a member of BBMRI-ERIC’s German Biobank Network, is involved in a study on healthy child development from pregnancy to early adulthood. The LIFE Child study focuses on identifying influences - positive or negative - on development, with particular attention to rising lifestyle-related diseases such as obesity, allergies, myopia, depression and hyperactivity.
Since 2011, the study has involved nearly 6,000 children and adolescents and more than 1,300 pregnant women. Assessments consist of biological samples, physical exams, standardised tests, questionnaires, and interviews.
The ongoing study includes three sub-cohorts: birth, health, and obesity, with enrolment possible up to age 16. The birth cohort follows pregnant women and their infants through the first year of life, focusing on how factors like maternal weight gain, gestational diabetes, diet, substance use, stress and breastfeeding impact early development. Participants are recruited via hospitals, midwives, and gynaecologists.
At the age of one, children from the birth cohort join the health cohort, which tracks physical and mental development through adolescence. Participants are recruited via schools, clinics and paediatric practices. Children and their parents return annually for in-depth health assessments until age 20.
Listen as Dr. Mandy Vogel and Dr. Ronny Baber guide us through photographs of a typical day for a child participating in the study.
The LIFE Child study - a BBMRI-ERIC interview with Mandy Vogel & Ronny Baber
The ABCD study
Emotional wellbeing in early childhood may influence physical health later in life. This is just some of the evidence that the Amsterdam-Born Children and their Development Study (ABCD) has been researching over the last 20 years.
The ABCD Study, led by Amsterdam UMC, is a large-scale and long-term research study into the health of 8,000 children born between 2003 and 2004 in Amsterdam. The team is investigating which factors during early pregnancy or in the first years of life influence the health of these children. Their aim is to contribute to the discovery of preventive measures to decrease health disparities from an early age. The samples collected in the study are stored at the Amsterdam UMC Biobank, a member of BBMRI.nl, locally coordinated by Health-RI.
Image courtesy of Amsterdam UMC: Phase four (children were 11/12 years old). Data was collected at attractive places, like Johan Cruyff stadium.
Image courtesy of Amsterdam UMC: Phase four (children were 11/12 years old). Data was collected at attractive places, like Johan Cruyff stadium.
The study is unique in its design, multi-ethnic composition and completeness of data collection and analysis. In a recent publication, the team outlines evidence that suggests early-life emotional and behavioural challenges may have an impact on children’s physical health - well before adulthood. Children aged 5-6 whose mothers reported more psychosocial problems (emotional, behavioural, and social difficulties) were then found to have slightly poorer cardiometabolic health when they reached ages 11-12. This means it is essential to protect and support children from a young age, even if the effects on their (physical) health are not immediately visible.
Image courtesy of Amsterdam UMC: Research team photo from phase seven at NEMO de Studio.
Image courtesy of Amsterdam UMC: Research team photo from phase seven at NEMO de Studio.
In 2024, many of the children who took part in the study - now young adults - came together at the ABCD Festival to connect and explore the valuable insights their data had helped uncover.
Environmental influences in pregnancy via mother–newborn samples
Scientists at the MedUni Wien Biobank, a partner of BBMRI.at, are dedicated to better understanding the environmental factors that can affect future generations. Researchers are studying the early life exposome, which focuses on the effects of chemical exposure, heat stress, and ART pregnancies (assisted reproductive technology) on birth outcomes.
We recently spoke to biologist Claudia Gundacker, senior group leader at the Center for Pathobiochemistry and Genetics about their work and its effect on patient safety in paediatric and newborn care.
Could you explain the term exposome and provide some examples?
The term “exposome” comprises all environmental, non-genetic factors that can influence human health. These include nutrition, socioeconomic status, lifestyle, infections and exposure to chemicals, environmental pollutants, noise, radiation, or heat stress. Integrating exposome data with One Health approaches allows researchers to better understand how environmental factors - such as pollution - affect human health, thereby enabling more comprehensive risk assessments and more targeted public health interventions.
How do exposome/environmental factors affect patient safety in paediatric and newborn care?
A number of environmental factors are associated with adverse birth outcomes, such as premature labor. We conduct basic research to improve the safety of women and their newborns during childbirth by elucidating mechanisms that lead, or contribute, to adverse birth outcomes. One focus is on preeclampsia, the most severe pregnancy disease, which is very often associated with a higher risk of preterm birth, low birth weight and the need for neonatal intensive care.
What samples do you collect to research environmental influences during pregnancy and what can we learn from these samples?
We collect blood samples from pregnant women, umbilical cord blood and placentas. Depending on the research question, we also collect breast milk or maternal urine. The samples are linked to health data from medical records and questionnaires and clinical markers. The specimens provide us with different information. Blood samples, for example, can serve as short-term markers for current exposure, while the placenta accumulates environmental influences and can help to understand past exposures. Here we closely collaborate with the MedUni Wien Biobank from BBMRI.at who support with pre-analytical knowhow and sample storage.
How can collecting and storing such samples in biobanks benefit research and thus the society?
Biobanks give scientists access to large collections of biological samples and the associated health data. This benefits biomedical and translational research, as also disease markers can be investigated. Biobanks reduce the need to recruit new participants for each new study, thereby lowering research costs. They enable reproducible and reliable results, also retrospectively, for example when temporal trends in exposure need to be determined.
Image courtesy of: Katharina Gossow
Image courtesy of: Katharina Gossow
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Courtesy of BBMRI.at
Patient safety from the start
Thank you for joining us to explore the important efforts underway to make healthcare safer for children everywhere.
The stories shared by the BBMRI-ERIC community reflect the dedication of countless individuals and organisations working across health research, policy, education, and advocacy to ensure that every child receives the safe, tailored support they deserve.
Further reading:
This story was made possible thanks to the BBMRI-ERIC community, in particular staff at: the Italian Association of Poland Syndrome, the Latvian Haemophilia Society, EURORDIS, the Hellenic Cancer Federation (ELLOK), the Latvian Rare Disease Alliance, the International Agency for Research on Cancer (IARC), BBMRI.de, Leipzig Medical Biobank, BBMRI.at, MedUni Wien Biobank, Amsterdam UMC, Health RI, BBMRI.nl, and the HQ Outreach and Communications team.
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