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Help for children with previously untreatable paralysis (SPG)

Project-No.: 2018 – AEP – 001

Spastic paraplegia (SPG), also called spastic paralysis, represents a group of neurodegenerative diseases that can occur inherited or spontaneous.

The spastic paraplegias are characterized by persistent spastic paresis in the legs. At a very advanced stage, the affected person can no longer live without a wheelchair for the following lifetime.

 

Not enough knowledge about the disease and its genetic study prevents predictions about asymptomatic family members that increase the risk of hereditary transmission. (That is, a family member could be a carrier without having symptoms themselves).

 

Families are in most cases irritated and uninformed about the causes of the illness and obviously in need, and if the patients are children, even more so.

 

With this project AEPEF tries to help families of affected children

  • eliminate uncertainties.
  • get to know the genetic basis of their children who confirm the disease, as well as the type of hereditary form: dominant, recessive or linked to the X chromosome.
  • to make a prediction of the diagnosis and development of their disease.
  • to prepare for new treatments such as biopharmaceuticals.
  • to provide emotional comfort.

 

It is expected that it will be possible to study around 20 families. Priority will be given to those children without a definitive diagnosis, genetic testing or incomplete diagnosis, and those whose complexity or development requires more specialized treatment.

 

The funds are needed for three specific purposes:

– Costs of doctors performing the genetic analysis.

– Cost of any additional analysis that may be deemed necessary for a complete and accurate diagnosis.

– Transport costs for poorer families to get to the doctors in La Coruña in northwest Spain

The project will be developed in collaboration with Telegenomics and the San Rafael Hospital in A Coruña, and the families will receive the attention of the following professionals:

 

– Dr. Jesús Eirís: specialist in neuropediatrics, expert in the diagnosis and treatment of childhood diseases affecting the nervous system, such as spastic paraparesis and related disorders.

 

– Dr. María Jesús Sobrido: Specialist in Neurology, with particular commitment to hereditary neurological disorders. Coordinator of the Working Group on Spastic Paraparesis and Neurological Diseases of Genetic Origin. She is very involved in our club. She led several other projects that took place in previous years.

 

– Dr. Beatriz Quintáns: PhD in Biology, specialist in molecular genetics, diagnosis and genetic counseling.

– Dr. Thais Pousada: nurse and occupational therapist. She will be responsible for managing appointments, information and coordinating the relationship with the medical team. It will contribute to the collection of genealogical data and advice.

0€ of 3.000€ raised
Select Payment Method
Personal Info

Billing Details

Wir freuen uns sehr, dass Du das Hilfsprojekt unterstützen möchtest! Du erhälst in Kürze eine EMail mit den Überweisungsinformationen.

Bei manuellen Überweisungen fallen keine Transaktionskosten an.

 

--- english ---

 

We are happy that you want to support the charity project! We will send you an email with the transaction details shortly.

Manual transfers are free from any transaction costs.

Donation Total: 1,00€

{amount} donation, {fee_amount} transaction fees

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