It can take between
5 to 10 years
for a person to reach the diagnosis of a rare disease, as mentioned by the Argentine Federation of Rare Diseases (Fadepof).
To facilitate detection and treatment, they propose a
six-step
route that they hope will be made viable with the support of the Ministry of Health.
It is estimated that in Argentina
3.6 million people
suffer from a Rare Disease (EPOF).
“The proposal is to gather the available information, make it accessible and show the resources that exist in Argentina,”
the executive director of Fadepof Luciana Escati told
Clarín .
He specified that the proposal has been evolving since 2008. Its goal is to gather
all the information
about the diseases, such as medications that exist and do not exist in the country, the centers and specialists that are treating them and know the experiences in the treatments to see which ones are better.
They seek to create a database that helps provide information to people who may suffer from one of the
more than 1,600 diseases
known to Fadepof.
Their proposal was presented as a roadmap in commemoration of World Rare Disease Day, remembered on February 29 worldwide.
The route is broken down into six points: Coordination between jurisdictions;
sustainable financing;
diagnosis and registration;
experienced care, treatments and support;
Investigation and development;
continuous information and awareness.
Leaders of FADEPOF member organizations at their Annual Meeting in 2023.
The first focuses on coordination between
national and provincial health
authorities to establish collaboration mechanisms between them and international organizations to share resources and practices to combat these diseases.
The second point highlights the need to
finance the costs associated
with rare diseases.
The third refers to an adequate organization of data on cases with rare diseases, to guarantee
early diagnosis
and adequate treatment.
The fourth refers to the
identification of centers and specialists
that have treated this disease, all with the aim of preventing patients from having to travel great distances, often in vain, in search of the doctor who can help them.
At this point they emphasize that they seek to work on the
mental health
of those who suffer from these illnesses, since they develop depression and unhappiness three times more than those who do not have these illnesses.
The fifth is to promote
research and
scientific projects that help to learn more about these diseases to have more effective treatments.
The sixth and last proposes
training doctors
so that they can identify these diseases by the symptoms that a patient may have.
"Especially for first care, so that they can quickly refer them to care centers, with continuous training we cannot expect them to know 10 thousand diseases, but we can expect them to know the symptoms or in which situations they have to be
more alert
and refer them to special centers ”, Escati pointed out.
He added that in a few days they expect a response to their request for an audience with the Minister of Health, Mario Russo, to see the viability of this roadmap they propose.
Fadepof also recommends always being alert because early detection is the best way to detect and recover from these illnesses.
For this reason they promote the
National Neonatal Screening Program.
This program is based on the extraction of
drops of blood from the heel of a newborn
, at 48 to 72 hours of life, to early detect between
6 to 8 congenital diseases
that they may have.
This preventive measure serves to treat damage that may become serious or irreversible over time.
“Through the use of biochemical markers, the program allows us to detect them to initiate early treatment and avoid, in many cases, a deterioration in the patients' health,” said Gonzalo Armani, a doctor specializing in Inborn Errors of Metabolism.
P.S.