Alma with CASK Syndrome Seeks Funds for Private Therapies

Alma, a one-year-old infant living in Tudela, Spain, requires between 150 and 200 euros every week to fund specialized therapies for CASK syndrome, an ultrarare genetic disorder, 20minutos.es reported.

Key Clinical Takeaways:

• Alma was diagnosed with CASK syndrome at ten months of age, an ultrarare genetic condition affecting brain development, resulting in microcephaly, intellectual disability, and psychomotor delay.
• Weekly private therapies—including physiotherapy, speech therapy, and music stimulation—cost between 150 and 200 euros, straining the resources of a single-parent, unemployed household.
• Local solidarity efforts, including volunteer fundraising via Fundación Donio, solidarity bracelets at Centro Neuros, and donation boxes placed by the Tudela Association of Merchants, have mobilized to support the family’s treatment expenses.

Diagnosis of CASK Syndrome in Tudela

Pregnancy monitoring initially flagged restricted fetal growth at week 31, though routine genetic screenings yielded normal results, 20minutos.es reported. Persistent feeding difficulties and developmental delays prompted further evaluation, leading to the confirmed CASK syndrome diagnosis in August when the infant reached ten months of age. Clinical manifestations of the condition include severe hypotonia, which impairs muscle tone, posture control, and motor functions such as crawling or grasping objects. Only about 300 cases have been identified globally, with approximately 15 known cases across Spain.

Private Therapy Costs Strain Unemployed Mother

Early intervention is clinically vital due to heightened neuroplasticity during the first years of life. Alma attends early childhood intervention once a week alongside private sessions with two physiotherapists, a speech therapist, and music therapy. These private sessions generate weekly expenses totaling 150 to 200 euros. Tania Da Costa, Alma’s mother, remains unemployed following a layoff during pregnancy and relies on support from her stepfather following her mother’s passing three years ago. Feeding challenges remain a primary clinical concern, as the infant exhibits reduced appetite and swallowing difficulties, operating at the 2nd percentile with a body weight of 7 kilograms at one year of age.

Community Solidarity and Fundraising Campaigns

To address the financial shortfall, Fundación Donio launched the “Alma guerrera” campaign to channel 100 percent of contributions directly toward specialized treatments. Local engagement expanded as the Tudela Association of Merchants distributed solidarity collection boxes across neighborhood shops, and Centro Neuros introduced charity bracelets.

Disclaimer: The information provided in this article is for educational and scientific communication purposes only and does not constitute medical advice. Always consult with a qualified healthcare provider regarding any medical condition, diagnosis, or treatment plan.