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La Glucogenosis


Living with type XV cardiac glycogenosis, a rare disease with few cases in the world.

Valencia, Nov 16 (EFE).- (Images: Eusebio Calatayud) Fernando Nieto is from Valencia, he is 44 years old and two years ago he was diagnosed with cardiac glycogenosis type XV, an ultra-rare disease of which there are very few known cases worldwide and for which there is currently no treatment.


Speaking to EFE, he tells what it is like to live with this rare disease that, according to him, makes him unable to work. Esther Zorio, cardiologist at the hospital


La Fe de Valencia has been treating Fernando for a long time and explains what the disease is like and what its symptoms are.


What is it like to live with porphyria?

Hepatic porphyrias manifests with: Intense abdominal pain; agitation, mental confusion; seizures; muscular weakness; nausea and vomiting; constipation; hypertension; increased heart rate, and anxiety.

San Filippo


Gene therapy opens a door to hope.

Madrid, Feb 26 (EFE).- Genetic chance wanted siblings Manuela and Pablo, aged 6 and 4, to inherit a gene mutation that causes progressive dementia. It is the Sanfilippo syndrome, a rare disease that now shows hope with gene therapy.


On World Day for Rare Diseases, on February 29, EFE delves into the case of Manuela and Pablo, who grew up normally, taking their first steps and speaking their first words.


But little by little normality broke down and the children, aged three and almost two, were diagnosed with Sanfilippo syndrome, which affects 1 in 100,000 children.EFE

La Hemofilia


What is hemophilia?

David Cuartas tells his experience of living and

fight this disease

It is classified as rare and causes coagulation deficiency, which causes bleeding that deteriorates the joints.

EL Cuidador


Interview about caregivers of patients

with rare diseases


Herney Cuartas / FUNDEM / FECOER

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