World Rare Disease Day and childhood: impact, challenges and support for families

The fact of being born with a rare disease is often compounded by a reality of social, medical, and institutional neglect.. To be born with butterfly skinHaving a rare syndrome like Morquio or Moebius means, first and foremost, needing a continuous healthcare and pharmaceutical carespecialized and coordinated care that does not always cover all the needs of the child or the adult.

Another factor to take into account is the emotional and social impact What does it mean for parents to receive a diagnosis (or live with the absence of one) and face the reality of a child who must fight for life in a more intense, more painful way, where every effort must be multifaceted? The family, practically overnight, becomes forced expert in a complex disease which, despite partially knowing its possible evolution, often has no cure or effective treatment.

In Mothers Today we want to invite you to reflect with us on this problemThe need to give more voice, more resources, and more support to people and children with rare diseases, especially within the framework of World Rare Disease Day, a key day to highlight this reality and demand equity in health.

World Rare Disease Day: why this date was chosen

El World Rare Disease Day It is celebrated on the last day of February, a date laden with symbolism. February is a month that has the distinction of being shorter than the others, and in leap years it includes an extra day. This condition "different" and infrequent This makes it a perfect symbol to represent the rarity of these pathologies.

For this reason, the commemoration takes place on February 28 and, in leap years, the February 29A unique day on the calendar. The aim is to associate the uniqueness of the date with the uniqueness of those living with these diseases, remembering that They are not just numbers or diagnosesbut people and families with life stories, dreams and concrete needs.

Since this day began to be celebrated at the initiative of the European Organisation for Rare Diseases (EURORDIS)More and more countries, health organizations, patient associations, and professionals have joined together to organize campaigns, conferences, awareness events, and educational activities. Their common goal is raise awareness, promote early diagnosis and improve the access to treatment and comprehensive support.

In many places they are also being promoted social media campaignsActivities in schools, illuminating buildings with representative colors, and readings of institutional manifestos all contribute to raising awareness of the reality of rare diseases. occupy a place on the public and political agendaThis is essential for generating real changes in research, funding, and service design.

Organizations like the Spanish Federation of Rare Diseases (FEDER)ALIBER (Ibero-American Alliance for Rare Diseases) and the international networks coordinated by EURORDIS are working to ensure that this day translates into concrete commitments to health equitysocial inclusion and support for children with rare diseases. The campaigns usually focus on diagnostic barriers, the difficulty of accessing treatments and the social impact of thousands of rare diseases identified worldwide.

Rare diseases: being a thorn in an ocean of water

We consider a disease rare when a person lives with an ailment, disorder or pathology that affects a very small number of the populationIn Europe, a disease is often considered rare when it affects fewer than 1 in 2.000 people, and in other contexts, it is considered rare when it affects fewer than 5 in 10.000. They are, so to speak, tiny thorns in seemingly calm oceans.

Although each disease affects few people, together they represent a major public health challengeIn Spain it is estimated that Millions of people live with a rare disease.It is estimated that there are more than [number missing] on a global scale. 300 millionAccording to various specialized sources, this means that, although the term "rare" might suggest something isolated or anecdotal, we are actually talking about a large and diverse group.

These diseases become very particular realities that force families and the healthcare team to seek out role models, information, and specialized support to offer the best possible care to that child or adult who, above all, deserves to enjoy a good quality of life and their rights equally.

To raise awareness about rare diseases, it's helpful to consider some key facts that help us measure its real impactmuch larger than is sometimes believed.

• Although at first glance it may seem exceptional to hear about diseases like Ondine's Syndrome or epidermolysis bullosa, as a whole, Millions of people live with a rare disease worldwide.
• According to international estimates, more than 300 million people They could be affected by some rare disease on the planet, and a significant portion of them remain without diagnosis or with incomplete diagnoses.
• Illness, pain, isolation, fear, and uncertainty It's not just the affected child or adult who experiences these challenges. Families are also an extension of these patients, which significantly amplifies the emotional, social, and economic impact.
• Rare diseases do not usually present with a single symptom or affected system. They are more commonly accompanied by... multiple alterations and complicationsTherefore, a multidisciplinary care sustained over time: doctors of different specialties, physiotherapists, educators, psychologists, speech therapists, occupational therapists, social workers…
• Diagnostic complexity, the variability of symptoms, and the lack of information mean that many families live a long “health pilgrimage” until they find a reference team that understands the clinical picture and can support them.

In addition to the strictly medical dimension, rare diseases are a a challenge for public health and healthcare systemstraditionally focused on highly prevalent pathologies. In this context, the specific health planning, coordination between levels of care and the collection of quality epidemiological dataPopulation registries are essential to prevent these patients from becoming invisible.

Regional and state institutions and organizations develop rare disease registries These records allow us to better understand how many people are affected, what their needs are, and how to plan appropriate services. They are key tools for design health equity policies and ensure that comprehensive, continuous, and coordinated care truly reaches those who need it most.

Rare diseases in children

If from our perspective we want to focus particularly on the problems of rare childhood diseases, it is because of their greater vulnerability And because, in many cases, if they do not receive adequate care, the necessary medication, and social support from institutions, Some of these children do not reach adulthood. or it does so with serious limitations.

• Many rare diseases are diseases chronic and degenerativeThe lives of these children can progressively worsen, marked by pain, frequent hospitalizations, social isolation, and extremely high emotional suffering for families who see how their children cannot access the same quality of life as other children of their age.
• In a large number of cases, these children end up developing severe disabilities. that affect their motor, cognitive or sensory autonomy, which implies a significant need for support for basic daily living activities.
• In many rare diseases, There are no curative treatmentsThe available therapies are primarily palliative or serve to slow the progression of the disease, reduce complications, or relieve pain.
• It is estimated that there are between 6.000 and 8.000 rare diseases described, although the data varies according to the sources and the classification used, and new syndromes are described every year.
• There are children who do not even receive a concrete diagnosis, since in some cases the genetic or environmental causes of their problem are completely unknown, or the combination of symptoms does not yet correspond to any described entity.
• Around 75% of rare diseases affect children during childhood or adolescence, which makes this age group one of the most affected.
• A significant percentage of children with rare diseases die in the first years of life, especially in pathologies with very early onset, which underscores the importance of early detection, research and access to pediatric palliative care when they are needed.
• Approximately 80% of rare diseases have a genetic origin.That is, they are related to alterations in one or more genes or chromosomes. The rest are associated with environmental factors, infections, severe allergies, or other mechanisms that are still poorly understood.
• Many of these pathologies manifest themselves during the first years of lifeThis requires special preparation of the Pediatrics, Neonatology and Primary Care teams to recognize warning signs and start the diagnostic process as soon as possible.

The impact on childhood is not only physical or medical. These children may face discrimination in the school environmentdifficulties with inclusion in play and leisure activities, and a feeling of being "different" that affects their self-esteem. Therefore, the following are crucial: educational support, raising awareness among peers and teachers and collaboration between family and school to adapt rhythms, materials and activities.

In this context, equity in health and education becomes an essential goal. Ensuring that children with rare diseases can develop their full potential Regardless of their social situation, where they live, or the complexity of their diagnosis, this is an objective aligned with the major international frameworks of children's rights and sustainable human development.

Most common rare diseases in children

Within the wide range of rare diseases, there are some that are diagnosed relatively more frequently. in pediatric age and which require close monitoring by specialized teams. Many of them are serious, chronic, and cause a high degree of disability, necessitating a multidisciplinary approach that also includes the family and school environment.

• Fanconi anemiaIt is usually diagnosed between the ages of 3 and 7 and is characterized by a very severe anemia This condition causes significant developmental problems, including short stature, low birth weight, limb malformations, small head and eyes, and hearing loss, among others. It requires close monitoring of bone marrow function and, in some cases, transplantation. The approach must be integrated. hematology, genetics, psychological support and guidance to the family on reproductive risks and options.
• Childhood-onset Amyotrophic Lateral Sclerosis (ALS)Although ALS is more commonly known in adults, there are pediatric forms. It is a disease neurodegenerative neuromuscular which entails great suffering and progressive decline, with paralysis and loss of motor neuron function. In childhood, it is associated with complex respiratory, nutritional, and motor support needsTherefore, pediatric rehabilitation and palliative care teams are essential.
• Huntington's diseaseIt is a pathology with a clear genetic component for which, despite advances, there's no cureIt causes movement disorders, cognitive limitations, psychiatric symptoms, and motor problems that can appear in adolescence (juvenile Huntington's disease). It requires a neuropsychological surveillance close contact, physiotherapy, adapted school support and emotional support for the whole family.
• Ulcerative colitis and Crohn's diseaseAlthough at first glance they may not seem "so serious", they are among the The most painful and debilitating intestinal autoimmune diseasesThese conditions are part of the group of rare childhood illnesses. They can involve weight loss, growth retardation, chronic abdominal pain, and the need for immunosuppressant medication. The impact on daily life is very high, therefore a comprehensive approach is necessary. Nutritional and psychological monitoring specific, as well as coordination with the school.
• Ataxia telangiectasiaIt is a neurocutaneous genetic disease in which a combination of skin and central nervous system problemsThese children may exhibit gait instability, coordination problems, immunodeficiency, and a prematurely aged appearance at very young ages. The treatment plan includes intensive rehabilitationinfection surveillance and emotional support in the face of progressive loss of autonomy.
• Niemann-Pick diseaseA lysosomal storage disease that is as sad as it is painful. It is characterized by a accumulation of fat deposits in various organs such as the brain, liver, or spleen. The child does not develop at the expected rate, may suffer seizures, feeding difficulties, and communication problems. Care focuses on improve comfort, safe food and alternative communicationin addition to taking advantage of any available therapeutic options.
• Bullous epidermolysis: commonly known as “butterfly skin”It is a hereditary disease in which the slightest touch can cause wounds and blisters. The skin tears easily, scars appear, and in some forms, even eating can be extremely painful because it also affects internal mucous membranes. Families require Specific training in wound care, skin protection, and pain managementas well as emotional support for the hardships of daily life.

These are just a few examples from a very broad group of pathologies that, in many cases, share a common characteristic: They need a comprehensive approach that combines medicine, rehabilitation, psychological support, educational resources, and social support.Each diagnosis opens the door to a different challenge for the child, their family, and the professionals, but in all of them, the following is fundamental: coordination between specialized centers and local services to prevent the family from feeling alone in the face of the complexity of the journey.

Emotional, social and educational impact of rare diseases

Living with a rare disease goes far beyond managing physical symptoms. It involves facing a complex emotional processThis is a difficult journey for both the affected person and their family. It often begins with clinical suspicion, involves multiple tests, visits to various specialists, and sometimes years of uncertainty before a definitive diagnosis is reached, if one is ever made.

Families may experience fear, guilt, anger, sadnessA sense of injustice and exhaustion arises from the burden of caregiving and the lack of clear answers. In many cases, healthcare is perceived as fragmented, and parents feel they must become case managers to coordinate appointments, treatments, and educational support.

At a social level, the figures show that a significant proportion of those living with rare diseases have suffered discrimination in areas such as social relationships, school, healthcare, or everyday life activitiesMisunderstanding, stereotypes, or fear of "the unknown" can lead to the isolation of these families if active efforts are not made to address their needs. community awareness.

The educational environment is an essential pillar. Many children with rare diseases require curricular adaptations, specific support or flexible hoursTeachers and guidance teams can be great allies when they receive adequate information about the disease, understand its implications, and work hand in hand with the family and healthcare professionals.

In addition to academic adaptations, it is essential to promote inclusive school environments where students with rare diseases can participate in activities, games, and projects to the best of their abilities. World Rare Disease Day campaigns often offer materials for educational centers, teaching guides and activity proposals that help explain the diversity of health to young children.

Rare diseases: the big ones forgotten by the pharmaceutical industries

As numerous patient organizations explain, the complex symptoms of each child or adult are compounded by a health and social environment that frequently is unaware of the diseaseThere are not always experienced specialists available, medical teams do not have all the necessary information, and, in many cases, families are forced to live in a difficult situation. endless journey of hospitals, doctors and tests which is not always as satisfactory or conclusive as they would like.

One of the big questions that arises is: Why are there so few specific treatments for these pathologies? Why, despite scientific advances, are there still so many patients without effective treatment options?

• Lack of sufficient fundingRare diseases affect a limited number of people, which leads some large pharmaceutical companies to consider them unprofitable from a strictly economic point of view. The development of so-called orphan drugs (drugs intended to treat very rare diseases) usually require specific incentives and public policies.
• Legal and administrative barriersIn some contexts, the lack of robust legal coverage or well-defined national strategies hinders the genetic researchclinical trials and the rapid authorization of new treatments.
• Low investment in researchAlthough biotechnology and genomic medicine are advancing rapidly, there is still a imbalance between research one aimed at highly prevalent diseases and the other aimed at rare diseases. This delays the development of personalized and precision therapies for thousands of patients.
• High cost of treatmentsOrphan drugs often have very high prices due to the complexity of their development. This can lead to problems with equal accessespecially when they are not included in the public services portfolio or when their financing depends on complex and prolonged administrative decisions.

Even so, significant progress has been made in recent years: new ones have been created Reference Centers and Units For rare diseases, participation has been increased in European and international research networks and tools such as specific population records to better understand the incidence and prevalence of these pathologies.

The promotion of new healthcare specialties, such as clinical geneticsand the recognition of research staff Within healthcare systems, these are key steps in bringing research closer to clinical practice. Thanks to this, it is becoming increasingly possible to identify specific mutationsto better understand the natural history of many diseases and, in certain cases, to repurpose existing drugs to treat very rare diseases.

Prevention, understood in a broad sense, also plays a key role. According to the WHO definition, Prevention is not just about avoiding the onset of the diseaseBut to halt its advance and mitigate its consequences once establishedIn the field of rare diseases, this involves acting on three levels: facilitating early diagnosisto slow the progression of the disease as much as possible and reduce the physical, psychological and social impact.

Prevention and equity strategies are related to global frameworks such as Sustainable Development Goalswhich promote health systems capable of offering comprehensive, continuous, and coordinated care to all people, including those with rare diseases. In this approach, rare diseases cease to be a marginal issue and become an indicator of social justice and quality of healthcare systems.

The role of healthcare professionals and patient associations

Healthcare professionals, and particularly those working in Pediatrics and Neonatology, are often the first to detect warning signs related to a possible rare disease. Often, families are discharged from the hospital without a firm diagnosis, but already with the suspicion that something is amiss. In this context, the work of nurses, doctors, and other specialists is crucial.

In addition to addressing immediate medical needs, these professionals must offer health education for familiesguiding them on the specific care their child will require beyond the hospital setting. It is also essential that the care be based on ethical principles of charity, justice, and respect for cultural and personal values of each family.

The healthcare teams that provide the best response to rare diseases are those that operate in a way that multidisciplinary and coordinatedIntegrating medical specialties, rehabilitation services, mental health, social work, and coordination with educational and community resources. This comprehensive approach reduces the risk of duplicate testing and improves the care continuity and avoids a significant part of the emotional strain on families.

Furthermore, the patient associations They play an irreplaceable role. Their life experience, accumulated over years of supporting people with rare diseases, makes them a source of practical and emotional knowledge very valuable for new families. These entities usually offer support groups, up-to-date information, legal and social advice and awareness-raising activities in schools, health centers and community spaces.

For professionals, collaborating with patient associations allows improve the quality of careanticipating specific needs and designing more effective referral pathways. For families, connecting with others who have experienced similar situations reduces feelings of isolation and facilitates access to resources. strengthens hope.

What can I do if I have a child or family member with a rare disease?

The most important thing when we receive the news that our child, partner, or family member suffers from a rare disease is to try to to set a clear purpose in our mindsTo offer him the best possible quality of life, to fight for his rights, to accompany him day by day and to make his reality visible in order to contribute to the development of more effective treatments and resources for him and for other people, sooner or later.

Try to focus on Live the present Making our son happy within his capabilities, integrating him into society, and facilitating his participation in activities with other children is essential. Every shared moment, every adapted game, every positive experience counts. A smile today is a hard-won emotionAnd that's something worth cultivating daily.

It is also essential not to neglect the family self-carePrimary caregivers need rest, the opportunity to express their emotions, and the chance to ask for help when needed to avoid physical and emotional burnout. Seeking psychological support, participating in parenting groups, or using respite care services can make a significant difference.

Something essential is to have the support of institutions, associations and organizations specialized resources, where you will find verified information, legal and social advice, educational resources and, above all, a network of people who understand what you are going through.

Therefore, don't hesitate to take into account these addresses from organizations specializing in rare diseases, which can help you deepen your understanding of each condition and locate services in your area:

• Orphanet It is a multilingual reference portal on rare diseases and medications for more than 6.000 conditions. It offers a wide range of services, including clinical descriptions, country-specific resources, and links to expert centers. orpha.net
• PubMed It provides access to a huge database of scientific articles on biomedicine and health sciences, with links to much freely accessible content, useful for delving deeper into current research on a specific disease: ncbi.nlm.nih.gov
• NORTH JUTLAND The National Organization for Rare Disorders (NOAD) is a non-profit organization dedicated to helping people affected by rare diseases, with information, support and promotion of research: rarediseases.org
• Disease InfoSearch It is an online search tool and database of resources on genetic diseases, connecting families with information and associations: geneticalliance.org
• Genetics Home Reference It provides understandable information about hundreds of genetic diseases, genes involved, and diagnostic tests, designed for families and patients: ghr.nlm.nih.gov

In addition to these resources, the World Rare Disease Day and the accompanying annual campaigns make available to the public educational materials, videos, testimonials and guides for educational centersJoining these campaigns by sharing information, participating in community events, or supporting an organization can be a valuable way to transform your personal experience into a collective one. source of change and solidarity.

The reality of rare diseases reminds us that each diagnosis holds a unique story and that, behind each symptom, there are people, families and professionals who struggle daily. To make visible, investigate, accompany and build support networks These are essential steps so that no one feels alone on this path and so that, little by little, the word "strange" ceases to be synonymous with oblivion and becomes a call to... shared responsibility and equity in childhood.