This is about Javiera González, a little girl of just one year old, who every 15 days has to undergo blood transfusions to combat unusual anemia. However, a stem cell transplant could change her life.
Javiera González is a one-year-old girl who in 2023 was diagnosed with a rare blood condition which affects 5 children per million. It is the anemia de Blackfan-Diamondthe only cure for which is a stem cell transplant.
This procedure consists of the replacement of diseased blood stem cells with those of a giving healthy and compatibleBut finding this donation is quite complicated, so its family made a call for help.
What is Blackfan-Diamond anemia?
The anemia de Blackfan-Diamond It is a hereditary disease, caused by a genetic mutation that prevents the bone marrow from producing enough red blood cells and leads to anemia.
This The disease is usually diagnosed in newbornsHowever, there are patients who may not present symptoms until their adolescence.
Within the symptoms identified are:
- Pale gums
- Very light skin
- Sleepiness
- Lack of appetite
- Lack of energy
- Rapid pulse
The case of Javiera Gonzalez
The little one Javiera was diagnosed in October 2023when she was only months old, and was subjected to a emergency blood transfusion.
Susana Otarola, Javiera’s mother, recalled how this process was which shook the family: “It was difficult. But when I heard what the diagnosis was, that there was a treatment and we had options, It was a relief to know that we could do something for her.“.
Since then, the Javiera’s treatment consists of blood transfusions every 15 daysbut her only option to be completely cured is to undergo a stem cell transplant.
According to her mother, transfusions also represent a risk to Javiera’s health, since after performing them “they have to do several tests to see how her heart and kidneys are working, so We try to postpone them as much as possible so that they do not harm him.“.
How to become a donor?
To date, Javiera has not been able to find a compatible donor in the DKMS registrythe international foundation dedicated to working against cancer and other blood disorders.
For the same reason, his family made a call for help so that more people can register for free as a donor and thus have more likely to find some compatibility.
To donate, you only need to have between 18 and 55 years old, living in Chile and being in good health. Those who comply and want to register must enter www.dkms.cl and follow the steps indicated on the page.
