Pequeño Hugo contra el síndrome de Lesch-Nyhan


Hola, soy Alicia, tengo 28 años y vivo en Tarragona. Mi niño Hugo llegó al mundo el 29/09/2017, dentro de 3 meses cumplirá 3 añitos. Cuando tenía 11 meses me lo ingresaron una semana en el hospital para realizarle todas las pruebas médicas. 

Hugo padece el síndrome de Lesch-Nyhan. Esto supone una alteración genética del gen HPRT. Este no sintetiza bien las purinas, con consecuencia de unos niveles de ácido urico súper elevados en sangre, y sin explicación ni investigaciones médicas, genera unas toxinas que alteran el sistema neurologico y psicomotor. 

Hugo no puede caminar ni mantenerse sentado, no sujeta su tronco. Tiene mucha espasticidad y movimientos involuntarios. Depende de mi absolutamente para todo. El pronóstico de esta enfermedad para mi niño es que nunca podrá hablar, caminar, ni valerse por si mismo. 

Hemos agotado todas las vías que nos da la Seguridad Social. Pues solo realiza fisioterapia 30 minutos a la semana en un centro de atención temprana. Estamos totalmente estancados. Nuestra única esperanza actualmente, es llevar a Hugo a un centro de rehabilitación privado,donde vemos que otros niños han conseguido poder andar y comunicarse. Este centro se llama método ESSENTIS, está en Cerdanyola del Vallés, Barcelona. El tratamiento cuesta 1000€ semanales, a los que a mí me es imposible hacer frente. Aparte de todos los aparatos ortopédicos que necesita y la Seguridad Social no cubre, o cubre una cantidad mínima. Cualquier ayuda es buena. Espero que esto llegue a la máxima gente posible, y sobretodo, poder y conseguir que mi niño aprenda a caminar y me llame mamá. 

¡¡GRACIAS POR VUESTRA AYUDA!!



Hello, I am Alicia, I have 28 years old and I live in Tarragona, Spain. I record this in order to talk about my son Hugo. He came to the world on 29/09/2017. In three months he will turn 3 years old.


When he was born everything was apparently normal and he seemed like a healthy boy. As months passed we saw he was not evolving like a normal kid. Then, the living hell of medical checks began. With 6 months, he could not hold his little head and his motor skills were not in accordance with his age. When he was 11 months he was admitted in the hospital during a week in order to carry all the medical checks at once, including a genetic check. There was when our world came down on us. Hugo suffers the Lesch-Nyhan syndrome. This means a genetic alteration of the HPRT gene. This gene does not synthesize properly the purines, which means very high levels of uric acid in blood. Also, with little to no explanation nor medical investigation, this generates toxins which alter the neurological and psychomotor systems.
Hugo cannot walk nor keep himself sitting, he cannot hold his own trunk. He has a lot of spasticity and involuntary movements. He depends on me for absolutely everything. The prognosis of this illness for my boy is that he will never be able to talk, walk or fend for himself. We have run out of all the means that the Public Healthcare offers. He only can have some physical therapy for 30 minutes a week in an early care centre. We are completely at a standstill.

Our only hope actually, is to carry Hugo to a private rehabilitation centre, where we have seen that other children with similar diseases and symptoms have achieved very effective results like the ability to walk and to communicate. This centre is called Method ESSENTIS, it is in Cerdanyola del Vallès, in Barcelona. The treatment costs 1000€ per week, quantity which I cannot deal with. Furthermore, he needs some orthopaedic devices which the Public Healthcare does not cover, or only covers marginally. I had to quit my job in order to take care of him.

Reaching this point, this situation is very uncomfortable to me and I feel very embarrassed, but it is the only hope for my child. Any help is welcome: 2, 10, 15 euros. If you cannot donate, there is no problem. At least help me to spread this, please.


I hope this reaches the máximum amount of people posible and above all, be able to achieve that my boy learns to walk and calls me mommy.


THANKS FOR YOUR HELP!!

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  • Anonymous 
    • €25 
    • 4 d
  • Cristina Méndez  
    • €50 
    • 5 d
  • Pablo Gutiérrez Rodríguez 
    • €30 
    • 6 d
  • Anonymous 
    • €10 
    • 6 d
  • Anonymous 
    • €12 
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Organizer

Alicia Moreno Bernier 
Organizer
La Gavina, CT, Spain
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