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#GIVINGTUESDAY RARE DISEASES NALCN and UNC80

Hope and a brighter future for rare diseases CLIFAHDD and IHPRF Syndromes

Collected

1.405€

Goal

1.500€

Donations

29

Left

Finished

94%

In support of

Category

Discapacidad intelectual Investigación científica Discapacidad física Enfermedades raras

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Published: 26 Nov 2021

Over the last years, too many of our NALCN and UNC80 children have struggled with intractable seizures, breathing disorders, global developmental delay associated with speech impairment, intellectual disability, dysautonomia, and hypotonía, combined with non-neurological symptoms such as facial dysmorphism, cardiac arrhythmia, endocrine dysfunction, and constipation. These health problems often have landed them in the hospital for days and even weeks. These children, their parents, and families motivate us to find much-needed treatments and a cure for NALCN/UNC80-related disorders. 
 
We know there are so many charities that are deserving of your support. As you consider your year-end giving, we hope you will make a donation to the non-profit Libellas foundation on #GivingTuesday the biggest day of the year for charitable giving, which is on November 30, 2021.
 
Our mission is to improve the quality of life for individuals with CLIFAHDD and IHPRF Syndrome through research and education to create a brighter future for these children by finding targeted treatments and therapies which will enable them to reach their full potential and live their best life. 
 

Fundación Libellas is an international, nonprofit patient advocacy organization dedicated to improving the lives of children affected by NALCN ion channel-related diseases, through research, family support programs, and education.

SEE MORE FUNDACION LIBELLAS

Children affected by mutations in the NALCN and UNC80 genetic variants have devasting symptoms and early death in severe mutations.  

NALCN/UNC80-related disorders, CLIFAHDD and IHPRF1 & 2 syndromes cause a large panel of symptoms that include severe encephalopathy associated with speech impairment, intellectual disability, dysautonomia, and hypotonia, breathing abnormalities (Apneas and hypopneas), combined with non-neurological symptoms such as facial dysmorphism, cardiac arrhythmia, endocrine dysfunction, and gastrointestinal symptoms

At the moment, patients do not have effective treatment options. 

With research, we have the opportunity to contribute to cutting-edge treatments. 

Your donation will offer more than just HOPE to families. It will pave a path towards the cure. 

VIDEO NALCN UNC80 GENETIC DISEASES

Fundación Libellas es una organización sin ánimo de lucro, dedicada al fomento y desarrollo de proyectos de investigación que redunden en beneficio de los niños afectados por mutaciones en el canal iónico NALCN. Además ofrece atención y ayuda a los pacientes y sus familiares. 

NALCN es un componente crítico de la excitabilidad neuronal y está involucrado en enfermedades genéticas extremadamente raras y graves. 

Los síndromes asociados a su disfunción son trastornos del neurodesarrollo que dan comienzo en la infancia: 

1. Síndrome de CLIFAHDD

2. Síndrome de IHPRF tipo 1

3. Síndrome de IHPRF tipo 2

Por el momento los pacientes no tienen opciones de tratamiento efectivos. Fomentar la investigación es nuestra esperanza para una cura. 

Fundación Libellas is a non-profit organization dedicated to the promotion and development of research projects that benefit children affected by mutations in the NALCN ion channel. It also offers care and help to patients and their families.

NALCN is a critical component of neuronal excitability and is involved in extremely rare and serious genetic diseases.

The syndromes associated with its dysfunction are neurodevelopmental disorders that begin in childhood:

1. CLIFAHDD syndrome

2. IHPRF syndrome type 1

3. IHPRF syndrome type 2

At the moment, patients do not have effective treatment options. Fostering research is our hope for a cure.

 

 

Donators (29)

Raquel

25€

42 days ago

Miguel

50€

42 days ago

Dany

35€

44 days ago

Beatriz Edda

50€

45 days ago

Beatriz Edda

50€

45 days ago

Juan Antonio

25€

49 days ago

Ricardo

100€

50 days ago

G

50€

50 days ago

Miguel

50€

50 days ago

Paulina

50€

50 days ago

Maria

50€

50 days ago

Antonio

25€

50 days ago

Soledad

Hidden donation

50 days ago

Clara

Hidden donation

50 days ago

Anonymous

150€

51 days ago

Anonymous

Hidden donation

51 days ago

Nola

Hidden donation

51 days ago

Alison Nicolson

50€

51 days ago

María

100€

51 days ago

Pilar

50€

51 days ago

Kay Rhodes

50€

51 days ago

Nuria

50€

51 days ago

ANA

15€

51 days ago

ANA

25€

51 days ago

Carlos

Hidden donation

52 days ago

Patty

Hidden donation

52 days ago

Libellas

50€

54 days ago

Anonymous

25€

55 days ago

Anonymous

50€

55 days ago

See more donators

Comments (6)

Dany

44 days ago

Mucha suerte Alvarito!! Aquí Dany contribuyendo

FUNDACION LIBELLAS

Leader 44 days ago

Querido Dany. Muchísimas gracias. Te lo agradecemos mucho.!!

Estupenda iniciativa

FUNDACION LIBELLAS

Leader 49 days ago

Muchas gracias Juan Antonio. Un abrazo fuerte

Gran trabajo

FUNDACION LIBELLAS

Leader 50 days ago

Muchas gracias Paulina. Abrazos

Mi amiga a Isabel xx

FUNDACION LIBELLAS

Leader 51 days ago

Muchas gracias Karen!!

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