In the world of rare diseases, Alagille syndrome stands out for its complexity and the ongoing challenges it represents for those who suffer from it. This genetic pathology affects several vital organs, including the liver, heart, kidneys and vascular system. Throughout patients' lives, the manifestations of the effects of this syndrome are not only physical, but also emotional and, as in most cases, social.
Coinciding with World Alagille Syndrome Day, we spoke with Isabel María Sarabia, social worker at the D'Genes Association, to hear first-hand what this rare pathology involves and what it means to live with it.
Isabel Sarabia is a social worker at D'Genes, an association that plays a key role in accompanying people with rare diseases. On a day-to-day basis, and through her work, Isabel is responsible for supporting families facing difficult diagnoses, providing information on available resources and ensuring that affected individuals have access to the medical and social services they need. With more than 39 professionals in charge, D'Genes embraces more than 400 rare pathologies, with Alagille syndrome being one of the most complex cases and for which there is a specific group that was created in 2020.
It is formed by families of patients and offers emotional support tools, informative/formative resources and a safe space to share experiences among people facing similar challenges derived from the diagnosis of this pathology.
“Our job is to help families so they don’t feel alone during this difficult process,” says Isabel. “We strive to raise awareness of these rare diseases, educate the public, and provide both patients and their families with the tools they need to face the daily challenges that come with a rare disease.”
Knowing that these pathologies are largely unknown to those who do not suffer from them, D'Genes plays a fundamental role in raising awareness and the organization organizes awareness campaigns, workshops and information days that allow patients and their families to learn about the syndrome, the treatment options and the rights that they have and that, from the Association, they help to claim.
Patient testimonial
This pathology mainly affects children, although it can also occur in adults. It is characterized by malformation of the bile ducts in the liver, which causes nutrient absorption problems and can lead, in the worst case, to liver failure. In addition, patients may have malformations in other organs such as the heart, kidneys, lungs and spine.
“It’s a very complex disease,” explains Isabel. “It’s not just about the visible symptoms, such as yellowish skin pigmentation or pale stools; it affects multiple systems that require constant, comprehensive care and can be life-threatening.”
Isabel wanted to share with us the case of Santiago, a patient member of the Alagille group at D'Genes diagnosed with this syndrome when he was just 6 weeks old, who recounts how the diagnosis changed the life, not only of her little boy, but of his entire family. "When my son was born, the doctors didn't know what was wrong with him. After many studies and a liver biopsy, they told us he had Alagille syndrome. It was a moment of shock and uncertainty, but the scariest thing was knowing that he might need a liver transplant," says his mother, Sandra.
Santiago underwent a transplant at age 3, a procedure that—though complicated by his young age—allowed him to move forward with his life. “The medical procedure was essential for him to remain an active child today, but we can never forget the constant struggle that comes with living with this condition,” she says.
Alagille syndrome, like all rare diseases, has no cure, and treatment is focused on managing symptoms and preventing serious long-term complications. Although patients can lead a relatively normal life with appropriate treatment, this involves constant medical follow-up, diet control and, in some cases, surgical interventions such as liver and kidney transplantation. In short, patients live very conditioned lives from the very beginning.
The importance of diagnosis
However, one of the biggest challenges is the lack of curative treatments and unequal access to medical care. In all cases, early diagnosis is essential to improve the patient's quality of life and avoid serious complications, but this is not always easy to achieve.
“Early diagnosis is key to preventing more serious problems,” explains Isabel. “But not all health centers or autonomous communities have access to genetic testing or specialized treatments. This creates a huge disparity in the care patients receive.”
Isabel also highlights how families find themselves having to navigate a complex healthcare system without always having the necessary information or resources. “Families are often unaware of the assistance available to them, and that’s where we step in to guide them.”
In addition to medical obstacles, Alagille syndrome brings with it social barriers that profoundly affect patients. From the moment symptoms become visible, patients, especially children, face social stigma due to physical appearance, such as yellowish skin, a common symptom of cholestasis.
The problem of stigma
For example, Santiago’s mother recalls how, when he was a baby, many mothers avoided approaching her son in parks when they saw the yellowish tint to his skin. “They thought it was something contagious, that my son had hepatitis, and they quickly walked away. That really affected us,” she says. “That adds even more to the emotional burden they’re already carrying.”
However, as patients enter adolescence and become more aware of their pathology, emotional management can become more complicated. Adolescence, in itself, is a particularly vulnerable time because of all the changes that occur in patients on a physical level, but even more so if we take into account the first standards of beauty and the awareness of 'comparing' themselves with others.
Along the same lines, psychological support is a demand of families from the time of diagnosis until the transition to adulthood. Knowing how to manage and guide family members and caregivers in the upbringing of the child is crucial for the management of the disease from the beginning and, above all, in the face of adulthood.
For this reason, the work of the D'Genes Foundation is fundamental in providing emotional and practical support to families affected by Alagille syndrome. Isabel emphasizes that one of the pillars of the organization is to offer a space where families can share their experiences, learn from each other and, above all, feel accompanied at all times.
“We organize gatherings for families so they can get to know one another, share their experiences, and support one another. These gatherings are a source of hope for everyone, because knowing that you’re not alone in this struggle is crucial,” explains Isabel.
In addition, D'Genes organizes workshops and training sessions for parents, caregivers and health professionals, allowing them to be better informed about the disease and how to treat it.
The future and its challenges
Alagille syndrome, due to its complexity and the chronic symptoms it presents, generates physical and emotional exhaustion in both patients and their families. Isabel describes how many patients experience extreme fatigue, not only from the physical symptoms, but also from the emotional burden of living with such a complex disease.
“Anxiety and depression are common among patients and their families. It is important for healthcare professionals to not only focus on the medical aspects but also to provide psychological support,” says Isabel.
Despite all the progress, one of the biggest challenges remains raising awareness of Alagille syndrome. The name of the disease is so uncommon that, as Isabel explains, many people have no idea what it means when it’s explained to them. “It’s a rare disease, and therefore, people don’t have any information about it. Many children, once they reach adolescence, prefer not to talk about their condition because it’s hard to explain.”
The need for Alagille syndrome to receive greater visibility is fundamental so that patients do not have to face so many social and emotional barriers. In addition, Isabel highlights the importance of patients having access to an international support network, which can be key for those who do not have access to the necessary medical resources in their country.
Life with Alagille syndrome is a constant struggle, not only against the disease, but also against the social, emotional and medical barriers that accompany this rare condition. As Isabel and Sandra tell us, social support, early diagnosis and greater visibility are essential to improve the quality of life of patients and their families.
"An early and accurate diagnosis can change everything," concludes Sandra, Santiago's mother. "It gives them the opportunity to receive the right treatments and, most importantly, it gives them hope."