Having hemophilia, that the blood does not clot properly, means having to inject a medicine every day or two to three times a week, so that a simple fall or blow does not take you directly to the hospital.
Although this has changed this 2020. After years of research, science has found a solution to improve the quality of life of these children and their families.
At least for those who suffer from Hemophilia type A. A milestone that deserves a mention this November 10, the day on which the
World Science Day for Peace and Development (UNESCO)
is celebrated in
order to underline the importance of science in society and in our daily lives.
Hemophilia is an inherited disease that is transmitted through the X chromosome, which is why it is more severely affected by men.
One in every 10,000 men born in Spain - others speak of one in every 5,000 - suffers from subtype A, a lack of blood coagulation factor VIII, and one in 30,000 from subtype B, in which factor IX is affected, as he explains Dr. Inma Soto Ortega, Head of the Haemostasis and Thrombosis section of the Hematology Unit of the HUCA Hospital in Asturias.
“Exactly this disease is due to a mutation or genetic defect that occurs on the X chromosome. Usually, being carriers, women do not suffer from the disease with the same intensity or with the same problems as men.
They need to have both X chromosomes affected ”, says the expert.
As he explains, this mutation conditions that a certain protein that intervenes in blood clotting is not synthesized or is poorly synthesized, or little, which is transcendental for this to occur: “The significance is that these patients, it is not that they coagulate, it is that the clot they make is of poor quality, it is not effective in stopping the possible bleeding that may occur.
Blood clotting is a physiological repair mechanism.
And hemophilia can be mild (+ 5%), moderate (1 to 5%) or severe (- 1%) depending on the amount of factor VIII or IX that you have ”.
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According to Soto, the symptoms can appear from birth, from the first year of life, or even never or rarely appear, such as in surgery or a visit to the dentist, "what we call a chance finding." "But severe hemophilia is the one that has the most importance and the one that motivates most of the studies and research. In this, the most typical is that it appears when the baby begins to stand up and walk, between one year and one year And then he leans on and one knee swells and the parents come worried, "he says.
Children live it quite badly.
“The treatment consists of having to provide the factor they lack intravenously two or three times a week.
There is treatment on demand, when they have a problem, but the most common is prophylactic treatment or what is called Preventive Treatment of Bleeding.
The Swedes, who are pioneers in the treatment of homeopathies, realized that with very little factor a lot of bleeding could be prevented.
Then they observed that if it was administered several days a week it was achieved that they bleed less.
And, indeed, this is so.
And thus, the main injuries caused by hemophilia, which are disabilities of the locomotor system, such as repeated bleeding in the joints, are largely avoided, ”Soto emphasizes.
This was seen before, and now, since prophylaxis is used, children are better, “athletes, without an injury.
Because I know it, but they are not distinguished from the population without disease ”.
Manuel, 10 years old and with severe hemophilia A
Among the serious diagnoses is the story of Manuel, a 10-year-old boy who suffers from severe hemophilia A - less than 1% factor 8 - with the added problem that his body created antibodies to the medicine he was taking, so its effect it was very short and had to be injected daily.
"I think I knew that something was happening from the day after Manuel was born," explains his mother, Noelia Martínez.
The little one had health problems from birth, nobody knew what was wrong with him.
The delivery was complicated and the little one started with head problems.
"She was very nervous, they did tests, but nobody said anything, finally a month later we had a diagnosis," says this woman who also has another 18-year-old son without disease.
Since then, the little boy had to undergo surgery to put a catheter in, to facilitate prophylaxis treatment, although it was removed around two years of age.
From then until he was eight years old, Manuel, every morning before going to school, had a 25-minute ritual in which it was his mother who injected him with the medication.
“I have never liked needles or blood.
But you get used to everything.
Every morning, I woke up at 07:00 to prepare the medication, put it on and go to school.
We have been lucky with the school and the teachers.
But it has been very tiring and terrifying ”.
According to him, there were times when he could no longer find a place to inject the medication, "I even went to the center for the nurses to help me, but in the end, he was calmer with me, if I did it".
After years of constant worry, now Noelia breathes a little easier.
“Since April they have been giving Manuel a new medication specifically aimed at his type of hemophilia.
Since it is only injected once a week, it has substantially improved everyone's quality of life.
We have gone from zero to 100 ”.
He even comments that there are times when Manuel has forgotten that he is sick: “He asks me to sign up for football.
He smiles more, relates and goes out more with his friends.
We have had only one scare in this time, but it was because he cracked his tongue on trampolines, but accidents do happen.
The change for everyone has been radical, we can travel without going out with the suitcase or looking for hotels with a refrigerator, in case something happened.
We have rested ”.
The Importance of Science in Hemophilia Treatment
"The drug, called Emicizumab (Roche) and approved by the Ministry of Health, arose initially because there is a very recurrent complication in the treatment of hemophilia, which is the development of inhibitors," Soto continues.
As is the case with Manuel.
"Inhibitors are antibodies that the patient's body develops against the protein we administer," continues the expert, "the body does not know it, this is not mine and I am responsible for it.
All this what it does is something terrible because it cancels your treatment.
And it forces you to put other types of treatment, which we call raffles, they are not as effective and they only serve you to keep pulling ”.
In principle, the development of this new product is produced by this need to find something that gives way to hemophilia with an inhibitor and only works with hemophilia A. It is an antibody, immunized monoclonal, very similar to an antibody of the human body: "It makes what factor VIII should do that the patient does not produce.
To get there, the Japanese tested 40,000 antibodies.
And they did it, they got an antibody that mimics the action of factor VIII on clotting.
And human antibodies don't attack it, because they don't recognize it as something foreign.
It consists of a subcutaneous injection once a week or every 15 days or every month.
It is a very important improvement in the quality of life of these patients ”, concludes Soto.
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