We interviewed Ainhoa Notario, coordinator and international representative of the Spanish Association for Hereditary Rickets and Osteomalacia (AERyOH), in observance of World Hypophosphatasia (HPP) Day, which is celebrated on October 30. How the condition affects patients, the diagnostic process, and the challenges they face are some of the topics we discussed with Ainhoa.

To mark World X-Linked Hypophosphatemia (XLH) Day, observed on October 23, we explore the realities and challenges of this rare disease through the experience and voice of Sonia Fernández, president of AERyOH, in a particularly significant year in which the association is celebrating its tenth anniversary.

Reaching a diagnosis can become an obstacle course for people with ultra-rare diseases. This is the case with acid sphingomyelinase deficiency ( ASMD), an ultra-rare genetic disorder that affects approximately one in every 250,000 births. To mark World ASMD Day, celebrated on October 19, we interviewed Daniel de Vicente, president of the ASMD Spain association.

Primary immune thrombocytopenia (PIT) is an autoimmune hematologic disorder in which the immune system attacks the body’s own platelets and may also impair their production. September 29 is World Thrombocytopenia Day, so we interviewed Javier Letellez, a hospital pharmacy specialist at Fuenlabrada Hospital (Madrid), and Miguel Ángel Martín, secretary general of the Spanish Hemophilia Federation (FEDHEMO). 

September 25 is World C3 Glomerulopathy Day, andto mark the occasion, AELMHU interviewed Marta Roger, presidentof the Association for Information and Research on Genetic Kidney Diseases (AIRG), which aims to improve the quality of life, diagnosis, and prognosis for patients with genetic kidney diseases.

World Familial Hypercholesterolemia Day is observed on September 24, and to mark the occasion, AELMHU interviewed Dr. Sergio Martínez, Professor of Medicine at the University of Valencia and head of the Lipid Unit in the Endocrinology and Nutrition Department at the University Clinical Hospital of Valencia.

To mark World Atypical Hemolytic Uremic Syndrome (aHUS) Day, we at AELMHU interviewed Francisco Monfort, president of the patient association ASHUA, and Mireya Carratalá, the secretary, to gain a deeper understanding of the reality faced by people living with this rare disease.

To mark World Duchenne Muscular Dystrophy Awareness Day, observed every September 7, we at AELMHU interviewed Silvia Ávila, president of Duchenne Parent Project Spain, an organization that works to advance research, advocate for patients’ rights, and provide comprehensive support to families living with this rare disease.

We spoke with Cuca Paulo, president of Stop Autoinflamatorias-FMF (Spanish Association for Autoinflammatory Diseases and Familial Mediterranean Fever), on the occasion of Autoinflammatory Diseases Awareness Month, about the progression of these conditions and the role that patient organizations play in addressing them.

To mark World Neonatal Screening Day, we interviewed Dr. María Luz Couce, scientific director of the Santiago de Compostela Institute for Health Research (IDIS), a national and international leader in inherited metabolic disorders and one of the most authoritative voices in this field.