Odyssey as a girl diagnosed with aHUS, an ultra-rare disease that attacks blood vessels

This rare genetic condition causes tiny blood clots to form in the body.

Louis Ochoa

October 27, 2022 | | Time to read: 4 min

This disease occurs suddenly and in its course destroys blood vessel cells. Photo: Shutterstock.

Anzareth Roce Ruiz Lista, a girl from Venezuela who was diagnosed with a strange disease in Colombia, atypical hemolytic uremic syndrome, which causes the formation of tiny blood clots in blood vessels body small.

Five months after arriving in Colombia with her mother, the girl began to exhibit serious health problems and not only that, but also faced difficulties in receiving treatment at a medical center because she was not connected to the territory’s health system.

His symptoms started with diarrhea, vomiting and sangre in the urine. At the Santa Clara Hospital in the city of Bogotá, they began to carry out the tests in question, but they did not give any concrete results, until they did a kidney biopsy and there hematologists and nephrologists diagnosed him with atypical hemolytic uremic syndrome, (aHUS), a disease that occurs suddenly and destroys cells in its course blood vesselsespecially affecting the kidneys.

The origin of atypical hemolytic-uremic syndrome

Although the disease occurs due to a change in the genes that control the immune system, the medical literature states that the mutation itself does not cause the disease, and in most cases a necessary trigger factor for aHUS to cause symptoms can be pregnancy, viral or bacterial infections, cancer or certain drugs .

The importance of keeping track of this condition is due to the fact that the flow sangre organs can be interrupted, which can lead to kidney failure, swelling of the legs, heart disease or even a stroke.

“If I had been in Venezuela, I would not have been diagnosed”

The girl’s mother, Amanda Lista Espejo, recalled the complex process she had to go through in a foreign country to save her daughter’s life.

“I believe that if I had been in Venezuela I would not have been diagnosed, the health situation in Venezuela is critical and for that I am grateful to Colombia. We are sister countries and this difficulty has made us stronger. It was a wise decision, bringing the girl; however, after After the diagnosis came a more difficult step, because none of us has a passport, and the girl was still hospitalized”.

In addition, he stated that he had to “go to the Delegation for the Prevention of the Risk of Human Rights Violations, the Office of the Ombudsman, where they directed me to get a safe place of refuge and to get a health promotion entity that would accept me as a member along with to his daughter.”

Treatment for life

After her affiliation, the pediatric patient began receiving treatment with the only drug available in the world for the disease, which must be life-long. In addition, the minor is also under the medical indication of a specialist who treats her illness.

“Thanks to Fundaper, the Foundation for Solidarity Support for Patients with Rare Diseases, I received donated treatment for the first three months, while my connection with the Colombian health system was resolved,” said the patient’s mother.

It should be mentioned that Fundaper is a non-profit organization that provides social and legal support to patients with this and other related pathologies, so that they can access treatment and prevent the deterioration of their health, as is the case with Anzareth.

The patient is currently nine years old, is in good health and goes to school, and can engage in activities like any girl her age. During that time, her 25-year-old mother, as well as her five-month-old sister, take care of her permanently.

Source consulted: Solidarity Foundation for patients with rare diseases.