Collected
9.821€
To benefit
A possible future
Pol has a genetic mutation that prevents him from developing naturally. We need your help to raise funds for research.
Collected
9.821€
Goal
100.000€
Donations
116
Left
35 days
In support of
Cause lead by
Category
Pol is 4 years old and lives with an ultra-rare disease. A mutation affecting one of his genes prevents him from developing as other children do. We know that, because his condition is so rare, research will not happen unless we make it happen ourselves. That is why we are raising funds.
Your support will help finance a study at a specialised research centre that will analyse hundreds of existing medicines to identify which ones could potentially improve Pol’s condition.
This process is known as drug repurposing, and it has already changed the lives of other children living with rare diseases.
That is why we need to raise €100,000.
This is Pol’s story.
Pol was born apparently healthy, but when he was four months old, we began to notice that something was not quite right. That was the beginning of a long period of uncertainty, fear and unanswered questions.
For years, we lived without a diagnosis, relying on constant therapies while watching his development progress very slowly. Pol is happy in his own world, but his genetic condition creates an invisible barrier that makes every step forward incredibly difficult.
Today, Pol is 4 years old. He cannot walk, speak or chew, although he keeps trying.
His journey is not linear. There are small steps forward, setbacks, hospital admissions and periods of regression that force him to stop or, too often, to start all over again. His therapies are ongoing and expensive, and the emotional and physical toll on the whole family is enormous, compounded by the constant uncertainty about what the future may bring.
We also live with epilepsy.
That means being on alert 24 hours a day, 365 days a year. A seizure can happen unexpectedly at any moment, with the risk of developing into a serious episode or causing further setbacks in his development. This constant vigilance profoundly affects family life, shaping decisions, routines and even the simplest everyday moments.
In June 2025, we finally received bittersweet news: Pol had a diagnosis.
It brought hope, but also sadness. There are only a handful of documented cases worldwide and almost no resources dedicated to researching his condition.
And this is precisely why our association was created: so that Pol’s future — and the future of other children like him — is not determined by a lack of research.
With your help, something that seems impossible today could become an opportunity, a breakthrough and the possibility of a better future.
We know that an ultra-rare disease like Pol’s, with only 15 documented cases worldwide, is unlikely to attract the research funding it needs. But we also know that a specialised genomics research centre could test existing medicines to identify which one — or which combination — might help Pol.
Perhaps those small steps he is taking today could become bigger ones. Much bigger ones.
That is why our friend Silvia will race the IRONMAN Calella on 4 October 2026 to raise funds for Pol.
She will run for those who cannot run. She will run for Pol.
Silvia believes that when you have been fortunate enough to receive, you also have a responsibility to give. So she is dedicating her time, her effort and her passion to helping make this dream possible for Pol.
Throughout the months leading up to the race, we want to raise the funds needed to finance his research.
And who knows?
Perhaps our contributions can give Pol a better life.
And perhaps one day, when he grows up, he will be the one crossing an IRONMAN finish line.
En Pol va néixer aparentment sa, però als quatre mesos de vida vam començar a notar que alguna cosa no anava bé. Aquell va ser l’inici d’una etapa de desconeixement, por i moltes incerteses. Durant anys hem viscut sense diagnòstic, lluitant amb teràpies constants per una evolució molt lenta. En Pol és feliç dins el nostre món, però la seva malaltia genètica li posa un fre invisible que li dificulta avançar. En Pol no camina, no parla i no pot mastegar, tot i que seguim lluitant per continuar avançant, poc a poc, cap a un futur millor.
El seu camí no és lineal: petits progressos, caigudes, ingressos hospitalaris i retrocessos que obliguen a aturar-se o, sovint, a tornar a començar. Les teràpies són indefinides, costoses, i el desgast emocional i físic per a la família és immens, amb la incertesa constant sobre el futur.
A més, convivim amb l’epilèpsia. Això significa viure en un estat d’alerta permanent, les 24 hores del dia, els 365 dies de l’any. Qualsevol moment pot desencadenar una crisi inesperada, amb el risc que aquesta derivi en episodis greus o provoqui nous retrocessos en el seu desenvolupament. Aquesta vigilància constant marca profundament la vida familiar, condicionant decisions, rutines i fins i tot els moments més quotidians.
El juny de 2025 va arribar una notícia agredolça: finalment vam tenir un diagnòstic. Ens va portar esperança, però també tristesa, perquè hi ha molt pocs casos al món i gairebé cap recurs destinat a la investigació.
Però aquí és on neix aquesta associació: perquè el futur d’en Pol —i el de molts altres nens— no quedi aturat per la manca de recerca. Perquè amb la teva ajuda, allò que avui sembla impossible pugui convertir-se en una oportunitat, en un avanç, en un futur digne.
Amb tants pocs casos d'aquesta mutació genètica no hereditaria al món (enfermetat rara), donem per fet que no s'investigarà mai. Però tenim la possibilitat de recaptar fons perquè un Centre d'Anàlisis genòmic pugui investigar d'entre tots els medicaments que ja existeixen al mercat, quin podria aportar efectes positius pel Pol.
Per això necessitem la teva ajuda. Necessitem recaptar fons per investigació, per donar al nostre fill un futur possible, una vida millor. Volem aconseguir que tingui una vida digne.
Al llarg de la història, altres casos d'enfermentats rares no investigables han trobat una sortida en la recerca mèdica actual. Lluitem pel mateix.
Gràcies.
Donators (117)
Anonymous
35€
One day ago
Aïda
Hidden donation
2 days ago
Anonymous
10€
2 days ago
Marta
5€
2 days ago
Anonymous
Hidden donation
2 days ago
Helena
50€
4 days ago
Lucian
1.000€
7 days ago
Ana
20€
37 days ago
Mercè
Hidden donation
37 days ago
miquel
100€
42 days ago
Rosa
50€
46 days ago
Sílvia
50€
59 days ago
Sabine hipp
15€
59 days ago
Antonio
50€
63 days ago
Sandra
50€
64 days ago
Anonymous
Hidden donation
65 days ago
Nuria
Hidden donation
68 days ago
Maria Del Pilar
50€
70 days ago
Anonymous
Hidden donation
78 days ago
Biel
Hidden donation
78 days ago
Núria Garcia
20€
81 days ago
Janina
35€
81 days ago
Noelia
30€
81 days ago
NOU TEAM SERVICIOS CORPORATIVOS SL
Hidden donation
94 days ago
Adria
10€
96 days ago
miquel
100€
96 days ago
Marta
50€
99 days ago
Montse
100€
101 days ago
Quim orra
50€
112 days ago
Anonymous
Hidden donation
112 days ago
Laura
100€
122 days ago
Noelia
50€
131 days ago
Eva
10€
131 days ago
Anonymous
10€
132 days ago
Anonymous
Hidden donation
132 days ago
Maria
50€
134 days ago
Roser
50€
135 days ago
Anonymous
Hidden donation
135 days ago
Valentí Masachs
5€
136 days ago
Sergi
2€
136 days ago
Emma
Hidden donation
137 days ago
ANNA CARBONELL UÑO
35€
138 days ago
Sergi
1€
141 days ago
Roser
50€
143 days ago
Marta
Hidden donation
145 days ago
Anonymous
20€
146 days ago
Anonymous
5€
147 days ago
Ines
Hidden donation
148 days ago
Irene Regol Sabe
Hidden donation
148 days ago
Anonymous
Hidden donation
148 days ago
Comments (43)
Mercè
En Pol i altres nens/es com ell s'ho mereixen!
Nuria
Mucho ánimo a las mamás de África y de Pol sois un ejemplo a seguir
NOU TEAM SERVICIOS CORPORATIVOS SL
Laura, molta força i endavant 💪
Adria
aportació ester nogueras
Montse
Laura desde Paris molts anims i molta força ,no sé si si aquí frança Hi ha algún estudi pero si vegessis alguna cosa digam'ho i tajudare en el k pugui traductora etc..
Per cert soc la Montse una forta abraçada
Laura
Per en Pol.
Per els qui no poden córrer.
Eva
Valents
Roser
Endavant i molta força, estem amb tu
Valentí Masachs
És important donar visibilitat aquest tipus d'enfermetats
Marta
Ánimo familia!!
Ines
Molts anims familia, un peto pel Pol
Irene Regol Sabe
Molt d’amor pel Pol i la familia! Anims
Cristina
Mucha fuerza 💪
Janira Carmona Murillo
Janira
Clinica Avancada Maa S.L.
Centre Maa (Dani i Maite)
Marc
Molta força, Pol&Familia!
Deni
Molta força Laura i familia
Carmen
Molta força!! Ho aconseguireu 💪☺️
Aina
Ànims família!!!!💪🏼💪🏼💪🏼🥰🥰🥰
Anna
Anims amb el repte i enhorabona per la iniciativa!
Victoria
Tant de bo amb aquestes iniciatives trobin una cura per al Pol i pugui tenir la vida més digna possible, tal com es mereix.
Sandra
Segueix lluitant com sempre ho has fet Pol!!
Jesica
Entre tots ho aconseguirem. Petons
Paula
Tots lluitem al vostre costat, que en viviu el dia a dia amb una força admirable. No esteu sols!
Jaume
💪
Helena
Força Pol!!!
Virginia
POL ets un tresor de vida ..Ganes de aportar i veure la teva evolució Virginia
Montse
Molta força !!
Natàlia
💪🏾
Amèlia
Endavant, Pol!!!
Mercè
💪💪
GLORIA
Una abraçada per a en Pol i per a tota la família!
Imma
Molta força 💪
Irma
Una abraçada ❤️
Laura
Per en Pol ❤️
Un futur Possible
Córrer per qui no pot fer-ho