Baby From Frigiliana Battles Ultra-rare Neurodegenerative Disease As Family Launches Urgent Funding Appeal

Frigiliana parents Ylenia and David faced unimaginable fearfulness connected December 12, 2025, erstwhile their four-month-old boy Nahel abruptly suffered convulsions astatine location successful nan early hours. Emergency infirmary transfers, extended tests and anxious waiting led to a devastating diagnosis: IRF2BPL-related disorder, besides known arsenic NEDAMSS syndrome.

Condition affecting less than 40 group worldwide

Nahel entered nan world connected August 25, 2025, astatine Hospital Comarcal de la Axarquia without complications and developed usually astatine first. Doctors later identified nan highly uncommon familial neurodegenerative condition, which disrupts neurological improvement and risks causing regression successful acquired skills specified arsenic reside aliases movement, alongside epilepsy and centrifugal disorders. Only astir 40 cases beryllium globally, pinch astir 15 successful Spain and 2 successful Andalusia. At 7 months old, Nahel functions astatine nan level of a two- aliases three-month-old infant, though he has begun smiling again and shows mini regular gains done early intervention.

Seizures and a travel to Madrid for answers

Initial seizures brought a 10-day infirmary enactment successful Malaga pinch medicine that gradually stabilised him. Further episodes successful mid-January prompted a travel to Madrid for a 2nd opinion, wherever specialists helped power nan crises. Confirmation of nan IRF2BPL test brought a activity of uncertainty, yet nan family has stayed strong. Nahel continues attending early involution sessions astatine El Taller de la Amistad successful Nerja for physiotherapy and stimulation while receiving epilepsy treatment.

Experimental cistron therapy offers sole dream to halt progression

No approved cure presently exists for this disorder. Experts see an experimental cistron therapy developed successful nan United States nan only involution tin of slowing aliases stopping neurological decline. Families crossed Spain, including different kid successful Granada, person joined forces to entree nan treatment, which carries a prohibitive full costs of astir €1.5 million. Nahel’s parents request astir €350,000 much to scope their share.

The unity run hopes to make Nahel’s early safe.

Ylenia and David established nan relation ‘Por la sonrisa de Nahel’ to transmission donations and organise support events. Significant costs person already arrived done organization generosity, but nan target remains pressing. “We garbage to unrecorded pinch nan regret of ne'er having tried,” David explains. The mates accent that Nahel’s communicative centres connected love, mini victories and unwavering determination alternatively than nan test alone.

How to support Nahel’s smile

Generous individuals tin lend via slope transportation to ES11 2100 5613 8702 0016 4123, referencing ‘Por la sonrisa de Nahel’. Further specifications and updates look connected nan association’s social media channels. Every aid helps bring nan pioneering therapy person and sustains dream for Nahel and different children facing this uncommon condition.

Rare diseases for illustration IRF2BPL touch thousands of families who trust heavy connected technological investigation and corporate kindness. Ylenia and David stay committed to fighting for their son’s brightest imaginable tomorrow. “Nahel’s early remains unwritten, and we will do everything successful our powerfulness for him.”