A six-year-old Portuguese boy diagnosed with a rare genetic condition lives in constant pain while his family campaigns for the government to subsidise a treatment gel already available in other countries.
Salvador was born on 13 May 2020 at the Hospital de Guimaraes with recessive dystrophic epidermolysis bullosa. The incurable condition causes severe skin fragility, leaving patients known as butterfly children because their skin is as delicate as a butterfly's wings.
His mother, Joana Paiva, explained that she had an uncomplicated pregnancy, but medical staff detected serious issues immediately after birth. Salvador was born with lesions on his legs, face and back, with some injuries exacerbated by natural childbirth.
He was transferred to Hospital de Sao Joao in Porto, where he remained admitted for his first three months of life. Doctors formally diagnosed the rare condition when he reached seven months of age.
Daily struggle with constant pain
Salvador lives wrapped in bandages across his entire body and suffers from open wounds that have failed to heal since birth. Neither of his parents had a family history of the illness, but genetic testing after his birth revealed that both his mother and father carry the recessive gene, which is how the disease is identified in most cases.
Epidermolysis bullosa is a rare hereditary genetic disease that affects more than just the skin. The condition causes severe systemic problems, damaging internal organs, the mouth, esophagus, eyes and mucous membranes while inflicting constant pain.
Cristina Miguens, a nurse who has spent much of her 40-year career working with the disease, noted that minimal friction can trigger severe skin breakdown. She explained that a tight hug or a baby rubbing their face against their mother while breastfeeding can cause immediate facial and oral lesions.
High cost of unapproved gel
A treatment called Vyjuvek, a topical gel applied directly to open wounds, has brought hope to patients. Clinical observations show the treatment yields a 70 percent improvement in wound healing for sufferers.
Although Vyjuvek is already marketed and accessible in several foreign countries, it has not yet arrived in Portugal. Salvador's parents are fighting to secure official regulatory approval and state subsidy for the drug.
Purchasing the medication abroad would cost 22,000 euros per week, totaling two million euros each year. Paiva pointed out that even a millionaire could not sustain an annual expense of two million euros out of pocket.
Unimplemented parliament legislation
Portugal records just over 150 cases of epidermolysis bullosa nationwide. Health authorities also officially codified 155 new rare diseases during 2025 as part of tracking uncommon medical conditions.
One year ago, patients and affected families took a petition to the Assembly of the Republic, Portugal's parliament in Lisbon, requesting state funding for medication, specialised dressings and essential care supplies.
Although lawmakers approved the proposed executive order, the measure was never implemented and remains on paper. Families continue to pay for all medical supplies out of pocket, with Paiva spending more than 400 euros every month for Salvador's basic treatments alone.
Call for state action and access
Miguens warned that rare diseases often face bureaucratic hurdles because their low prevalence reduces commercial and political attention. She argued that if the disease were more widespread, state authorities would likely pay greater attention to it.
She emphasized that Vyjuvek is not a cosmetic intervention, but a critical therapy that improves quality of life for patients and caregivers while preventing future medical complications.
The situation comes amid broader challenges for patients seeking new therapies in Portugal, where medicines regulator Infarmed recently issued a negative opinion on innovative treatments for Alzheimer's disease.
