Josefina Calixto is aware that the rare disease her daughter suffers from has no cure and recognizes that the art of living with one of these conditions is a lifelong learning experience for patients and their families.
“Sometimes you want to give up, but you have to keep going,” Josefina explains to Efe.
For nine years, Arantza, her little girl, suffered the ravages of Glanzmann’s thrombasthenia, a rare disease that causes heavy bleeding and prevents her from leading a normal life.
“He doesn’t go to school, because he has bleeding, sometimes he bleeds every two days, it depends on how the disease behaves,” he explains.
The girl is one of the millions of patients suffering from a rare disease in the world, who are so named because they affect less than 5 out of 10,000 inhabitants in the world.
Daniela Morales, a neurology specialist, estimates that about 7 million people in Mexico live with one of more than 6,000 rare diseases.
Since 2008 and because February is the only month that has only 28 or sometimes 29 days, World Rare Disease Day is commemorated on the last day of the month, to make the population visible and aware of these diseases.
“They told me that my daughter has a rare disease, I didn’t even know it existed, but now I’ve been taking care of her for this disease for almost 10 years, it was difficult,” confesses Josefina.
No explanation
Juana Inés Navarrete, head of the genetics department at the Central Sur Hospital of Another Specialty of Mexican Petroleum (Pemex), explains that these diseases have 80% genetic origin, which means that most are inherited.
Josefina has searched her family tree hundreds of times for the history of a rare disease and the answer is always the same: there is no explanation.
“I have no history. At least I don’t know and this is the one that hurts me the most, because sometimes we wonder why it happens to us, why to my daughter?
Glanzmann’s thrombasthenia, says the expert, is an inherited bleeding disorder, those who suffer from it do not have the ability to form a platelet plug, which affects the clotting system.
“Sometimes I don’t know what to do, when he will bleed, if he will be followed, if he will come through his nose, mouth, ears, private parts, it is very frustrating,” says Josefina.
Neglected diseases
In Mexico, there is a lack of accurate information on rare diseases, including coagulation, such as Arantza.
“Although we live in a world that tries to be inclusive, with rare diseases this does not happen,” says the doctor.
He explains that because they do not have such a high frequency, this makes them go unnoticed and they are often confused with other diseases and sometimes they are not even taken into account.
“These people go on pilgrimage to be diagnosed and, if they are not diagnosed, they are not treated,” he says.
This, he says, affects the fact that patients take months and even years to be able to detect their disease.
Dr. Daniela Morales points out that there are patients who can take 9 years or more to reach a diagnosis and the main symptoms appear in infancy.
High costs
These diseases are a challenge due to the high cost of treating a disease such as Arantza.
“I don’t have social insurance, my husband was unemployed in December because of the pandemic. Before, at least, I had popular insurance and it covered some things, but now not even that,” Josefina cried.
However, he says they have made efforts to avoid leaving the girl without therapies, although “it is complicated” and the covid-19 pandemic makes it even more difficult.
“In January we had to hospitalize her and there were no platelets, apart from the fear of going to hospitals, but I can’t leave her without therapy,” he adds.
Finally, Josefina assures that these diseases affect the whole family emotionally: “my husband has become hypertensive, my little daughter has nervous colitis, but we take her there, although sometimes we want to give up, we have to continue”, she concludes.